Group Title: survey of genetic counseling professionals in the southeastern United States : actual versus perceived roles /
Title: A Survey of genetic counseling professionals in the southeastern United States : actual versus perceived roles /
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Title: A Survey of genetic counseling professionals in the southeastern United States : actual versus perceived roles /
Physical Description: x, 267 leaves : ; 29 cm.
Language: English
Creator: James, Delores Corinne Suzette
Publication Date: 1993
Copyright Date: 1993
 Subjects
Subject: Genetic counseling   ( lcsh )
Counselors   ( lcsh )
Health counseling   ( lcsh )
Counselor Education thesis Ph. D
Dissertations, Academic -- Counselor Education -- UF
Genre: bibliography   ( marcgt )
non-fiction   ( marcgt )
 Notes
Thesis: Thesis (Ph. D.)--University of Florida, 1993.
Bibliography: Includes bibliographical references (leaves 261-266).
Statement of Responsibility: by Delores Corinne Suzette James.
General Note: Typescript.
General Note: Vita.
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Bibliographic ID: UF00099561
Volume ID: VID00001
Source Institution: University of Florida
Holding Location: University of Florida
Rights Management: All rights reserved by the source institution and holding location.
Resource Identifier: alephbibnum - 001938136
oclc - 30935143
notis - AKB4271

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A SURVEY OF GENETIC COUNSELING PROFESSIONALS
IN THE SOUTHEASTERN UNITED STATES: ACTUAL
VERSUS PERCEIVED ROLES



















By

DELORES CORINNE SUZETTE JAMES


A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL
OF THE UNIVERSITY OF FLORIDA IN PARTIAL FULFILLMENT
OF THE REQUIREMENTS FOR THE DEGREE OF
DOCTOR OF PHILOSOPHY

UNIVERSITY OF FLORIDA


1993

































Copyright 1993

by

Delores Corinne Suzette James











































To my parents, Bentura and Christine James, my siblings,
Berris, Audrick, and Patsy, my nieces, Isheba and Sharifah,
for all their love and support.














ACKNOWLEDGEMENTS


I would like to thank my committee members Dr. Barbara

Rienzo, Dr. Lee Crandall, Dr. David Miller, Dr. Morgan Pigg,

and Dr. Steve Dorman for their support and expertise. Special

thanks go to the Department of Community Health and Family

Medicine, University of Florida, and the Morehouse School of

Medicine, Atlanta, Georgia. Special thanks also go to the

McKnight Doctoral Fellowship Program and the Florida

Foundation For Higher Education for financial and emotional

support. My thanks and appreciation also go to the members of

the Black Graduate Student Organization, my friends, and

relatives for emotional support.
















TABLE OF CONTENTS


ACKNOWLEDGEMENTS . . . . .


ABSTRACT . . . . . . . .

CHAPTERS

1 INTRODUCTION . . . . . * ..........

Genetic Counseling . . . ......... * *
Health Education And Genetic Counseling . . .
Theoretical Framework . . . . .
Statement Of The Research Problem . . . .
Significance Of The Research Problem . . . .
Assumptions . . . . . . .
Limitations . . . . . .
Delimitations . . . . . .

2 REVIEW OF THE LITERATURE . . . . . . .

Birth Defects: A National Health Challenge . .
The Human Genome Initiative/Human Genome
Project . . . . ........... * * *
Health Education . . . . ........ * *
Genetic Counseling . . . . ...... * .
Genetic Counselors . . . . . * * *

3 RESEARCH DESIGN AND METHODOLOGY . . . .

Survey Research . . . . . .
Subjects . . . . . * . ..........
Instrument . . . . . . .. * * *
Procedures . . . . . . * * * *
Data Analysis . . . . . . .

4 RESULTS . . . . . . . .


Descriptive Findings . .
Demographics . . . .
Education . . . .
Genetic Counseling Team
Prevalence of Genetic
Respondents . . .
Facility . . . .. .
Patient Population . ..


Disorders
. 0 o
* o *
. o . .


Among

o *


S. iv








Professional Preparation: Human Genetics ... 71
Professional Preparation: Counseling
Techniques . . . .... . . . 72
Professional Preparation: Educational Methods And
Principles . . . . .... . . . .... 74
Inferential Statistics . . . . . . . .. 75
Work Week . . . . . .... . . . 76
Counseling Goals . . .... .. . . . .. 86
Educational Methods and Principles . . ... 94
Factors Perceived To Increase Counseling
Effectiveness . . .. . . . . 104
Factors Perceived To Limit Counseling
Effectiveness . . .... .. . . ... 108
Roles In The Counseling Process: Who
Routinely Does What? ...... . . 109
Roles In The Counseling Process: Who Should
Be Doing? . . .... . . . . . 140
Relationship Between Who Does And Who Should
Do Counseling . . . .... . . 166
Summary Of Major Findings . . .... . . . . 175
Demographics ........ . . . . . 175
Genetic Counseling Team . . .... . . 175
Facility And Patient Population ... . .. 175
Professional Preparation: Human Genetics ... 176
Professional Preparation: Counseling Technique .177
Professional Preparation: Educational Methods and
Principles ...... . . . . . 177
Counseling Goals . . .... .. . . . 178
Educational Methods And Principles .... .. 179
Factors Perceived To Increase Counseling
Effectiveness . . .... .. . . . 180
Factors Perceived To Limit Counseling
Effectiveness . . .... . . . 183
Roles In The Counseling Process: Who Routinely
Does What? . . . ... . . . . 184
Roles In The Counseling Process: Who Should Do
What? . . .... .. . . . . . 187

5 DISCUSSION AND IMPLICATIONS . ... . . . 191

Demographics ........ .. . . . . 192
Education . . . .... . . . 193
Patient Population . ... . . . . 193
Facility . . .... . . . . . 194

Experience, Preparation And Training .... . . . 195
Experience ..... . . . . . . . 195
Human Genetics . . ... . . . . . 196
Counseling Techniques ...... . . . 199
Educational Methods And Principles ...... . 200

Counseling Goals . . .. . . . . . . 203









Educational Methods And Principles . . . . .. .205
Counseling Effectiveness . . . . . . .. .207
Genetic Counseling . . . . . . ... . 210
Conclusions . . . . . . ... . . . 215
Policy Recommendations . . . . . . . .. .218

GLOSSARY . . . . . . . . . . . 222

APPENDICES

1 INSTITUTIONAL REVIEW BOARD APPROVAL LETTER . 225

2 QUESTIONNAIRE . . . ... . . . . . 228

3 EXTRA TABLES . . . . ... . . . 240

4 GENETIC COUNSELING PROGRAMS . . . . .. .257

REFERENCE LIST . . . . . . . . . . 261

BIOGRAPHICAL SKETCH . . . . . . . . .. 267














Abstract of Dissertation Presented to the Graduate School
of the University of Florida in Partial Fulfillment of the
Requirements for the Degree of Doctor of Philosophy

A SURVEY OF GENETIC COUNSELING PROFESSIONALS IN THE
SOUTHEASTERN UNITED STATES: ACTUAL VERSUS PERCEIVED ROLES

By

Delores Corinne Suzette James

August, 1993

Chairperson: Dr. Barbara Rienzo
Major Department: Health Science Education

This study was part of an Ethical, Legal, and Social

Implications of the Human Genome Project (ELSI) grant funded

by the Department of Energy (DOE) and the National Institutes

of Health (NIH). It was conducted under the aegis of the

Morehouse School of Medicine in Atlanta, Georgia, and the

University of Florida College of Medicine in Gainesville,

Florida. As part of the project, the current study sought to

answer the following questions: 1) What are the qualifications

and training of professionals in the southeastern United

States who provide genetic counseling? 2) Who routinely does

and who should do genetic counseling? and 3) What are the

educational methods used by the different health professionals

in genetic counseling? A self-administered mail survey was

sent to 325 potential genetic counseling professionals in the

southeastern United States (Alabama, Florida, Georgia,


viii








Kentucky, Louisiana, Mississippi, North Carolina, South

Carolina, and Tennessee). Two hundred four persons

volunteered for the study. Genetic associates (31%),

physicians (30%), and nurses represent the three largest

groups of health professionals involved in the genetic

counseling process. Genetic counseling is usually a team

activity. The majority of respondents reported that social

workers are not and should not routinely be involved in

genetic counseling. Genetic associates are well trained in

human genetics and counseling techniques, but like physicians

and nurses have much room for improvement in the educative

aspect of counseling. Physicians have more years of

experience (13 years) doing genetic counseling than genetic

associates (6 years) and nurses (6 years) but the bulk of

their training apparently comes from supervised clinical

training rather than formal courses in human genetics,

counseling techniques, and educational methods and principles.

Nurses and genetic associates have comparable years of

experience but nurses lack the formal courses in human

genetics and counseling techniques. The majority of all

respondents had no formal training in educational methods and

principles. Educational techniques such as assessing clients'

educational level and asking patients to repeat information in

their own words were not always utilized. Recognizing

professional limitations and formal training in human genetics








are the only two factors perceived to increase counseling

effectiveness. Policy recommendations are given.














CHAPTER 1

INTRODUCTION


Recent advances in medical genetics have resulted in a

demand for more and better genetic counseling services. These

advances have included increased knowledge about how certain

diseases are inherited, the ability to detect chromosomal

abnormalities, and prenatal diagnosis of certain diseases.

Individuals now have more opportunities to understand their

biological heritage and to make their health care plans and

reproductive choices accordingly. As technology advances

through spinoffs of research sponsored by the Human Genome

Initiative/Human Genome Project (HGI) and other genome

research, cheaper and more accurate tests for diseases will be

readily available. An even greater incentive for genetic

disease screening will follow the availability of adequately

developed gene therapy which also is anticipated to be

developed as a result of research funded through the HGI.

As the technology grows, there also is the potential for

overwhelming the existing health care system. How will

genetic counselors keep current in this voluminous field of

information? In 1991, the National Society of Genetic

Counselors estimated that there were less than 600 nationally

certified genetic counselors. Because of the shortage of

1








2

nationally certified genetic counselors, other health

professionals engage in the process of genetic counseling.

Genetic counseling is usually provided by four groups of

people: physicians, nurses, social workers, and master's

trained genetic counselors (genetic associates). Because

different types of people (with varying qualifications and

different levels of training) provide genetic counseling, it

is necessary to explore the distinctions between providing

genetic information, providing genetic education, and

providing genetic counseling. Who is qualified to do what?

Is there a need for role delineation? Should only master's

trained genetic counselors provide genetic counseling? Are

some patients (e.g. indigent and rural patients) more likely

to be counseled by less trained individuals? Issues such as

who genetic counselors are, what their qualifications are, how

they are trained, what their roles are as members of the

health care team, and what constitutes genetic counseling

become complex when carefully examined.


Genetic Counseling


Genetic counseling is the current health service approach

to educating about and possibly preventing many genetic

diseases. There are numerous definitions of genetic

counseling in the professional literature. Fraser's (1974)

definition of "genetic counseling" is one of the most

comprehensive:








3

S. .a communication process which deals with the
human problems associated with the occurrence, or
the risk of occurrence of a genetic disorder in a
family. This process involves an attempt by one or
more appropriately trained persons to help the
individual or the family to (1) comprehend the
medical facts, including the diagnosis, the
probable course of the discourse and the available
management; (2) appreciate the way heredity
contributes to the disorder and the risk of
recurrence in specified relatives; (3) understand
the options for dealing with the risk recurrence;
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision; and (5) make the best possible adjustment
to the disorder in an affected family member and/or
to the risk of recurrence of that disorder.
(Fraser, 1974, p. 637)


This definition, therefore, identifies two potential goals of

genetic counseling: 1) to transmit medical facts about a

particular disorder; and (the more controversial), 2) to help

couples make use of this information. The most documented

effectiveness of genetic counseling has been in providing

patients with information on diagnostic issues, recurrence

risks, or both (Kessler, 1992a).

Genetic counselors have diverse educational credentials

and clinical experiences. Persons who provide genetic

counseling include master's trained genetic associates,

nurses, physicians, and social workers.

Two aspects of genetic counseling that "are frequently in

tandem, rarely side-by-side, and sometimes in conflict"

(Duster, 1990, p. 79). On one hand, the genetic counselor

acts as a "neutral" information giver, providing statistical

probabilities and risk of recurrence. On the other hand, some








4

genetic counselors view sympathetic communication between

counselor and client as the central concern of good counseling

(Duster, 1990). Many genetic counselors also advocate helping

clients adjust psychologically and socially to the problem.

However, this aspect of genetic counseling tends to be

neglected (Fraser, 1974; Sorenson, et al. 1981).

Genetic services are usually located in large, urban

tertiary medical centers. Harris (1989) notes that it is not

feasible for rural centers to ask individuals to travel

distances as far as 350 miles to urban centers for counseling

or to send a counselor a similar distance. Some large medical

centers have established "satellite" clinics to provide

genetic services in rural areas.

Genetic "counseling" is usually a one-time 45 to 60

minute session with an occasional follow-up session. Genetic

counselors in prenatal settings usually take an extensive

family history and gather information on the pregnancy and

possible teratogenic exposure. Couples are told about the

available tests and the risks involved in prenatal diagnostic

testing. Some patients choose to have prenatal testing and

some do not. Those who decide to undergo testing are

presented a number of options if their fetus is at risk

(including fetal termination). Genetic counselors who work

with the pediatric population, try to determine if the

presented disorder is genetic in origin. If it is genetic in

origin, parents are told about the nature of the disease and








5

the risk recurrence for future children. In all cases, the

primary role of genetic centers is to provide patients with

information that enables the clients to make informed

decisions (Byman, 1988).


Health Education And Genetic Counseling


Health education is any planned educational activity

which promotes health or illness related learning (Tones,

1990). Health education which takes place in a medical

setting is termed "patient education." Planned patient

education programs and services include activities designed to

inform patients about their medical condition and to assist

patients to manage their disease and to modify their behavior

in order to promote health and prevent disease (Squyres,

1985). Regardless of the setting, health education should not

seek to coerce or persuade but rather to facilitate informed

choice (Tones, 1990).

The critical outcome of a health education intervention

is that the client possesses the understanding, skills, and

experience needed to make and implement informed health

decisions (Shireffs, 1984). There is disagreement, however,

as to the methods by which this outcome is best achieved.

Effective health education may 1) produce changes in

understanding or ways of thinking; 2) bring about some shift

in belief or attitude; 3) influence or clarify values; 4)








6

facilitate the acquisition of skills; and 5) effect changes in

behavior or lifestyle (Tones, 1990).

Genetic counseling, in many respects, can be viewed as a

form of health education. Counselors usually agree that

genetic counseling is basically an educative undertaking and

that a primary goal of genetic counseling is client education

(Sorenson et al., 1981). Imparting information and

understanding the implications of that information for clients

is an integral aspect of genetic counseling. Genetic

counselors are usually concerned with their educative role.

They strongly endorse the importance of helping clients

understand the diagnosis, etiology, management, risk of

recurrence, and options for dealing with that risk (Sorenson

et al., 1981; Kessler, 1992). They are less committed,

however, to the tasks of helping clients adjust to, or cope

with the disorder. Genetic counselors rarely address

important medical topics, such as the prognosis of a disease

or disorder, and its treatment (Sorenson et al., 1981).

As an educative activity, Sorenson et al. (1981) found

genetic counseling to be relatively ineffective. In their

study, 54% of clients given a risk and approximately 40% of

clients given a diagnosis were not able to report it almost

immediately after counseling. These findings indicate

problems both with the counselors' ability to educate clients

(including assessing client knowledge and learning readiness,

and reinforcing learning) and the clients' abilitie to learn.










Theoretical Framework


The philosophical and theoretical issues which affect

education also affect health education and, therefore, genetic

counseling. There are two broad educational perspectives that

influence health education. The pre-Renaissance perspective

sees the aim of health education as molding or shaping people

in the direction of behavioral changes that lead to an

increase in health status. The post-Renaissance perspective

is the more popular perspective. It sees the mission of

health education as providing individuals with the opportunity

to make informed choices about behavior (Bates & Winder,

1984).

Technical expertise is only one element involved in

health education and genetic counseling. Health educators

believe that different theories of learning are applicable to

different situations. Given the high variability in genetic

disorders, and the association of these disorders to socially

identifiable groups which have their own coping mechanisms, it

is impossible to advocate a single method or a particular

style of genetic counseling that is most effective (Duster,

1990). Competent health educators are able "to both assess

the learner and the learning situation and then proceed to

educate on the basis of an effective and appropriate theory of

instruction" (Bates & Winder, 1984, p. 39). What is known

should be taught in a manner that facilitates understanding of

current realities. Health educators aid people in the








8

solution of their problems, not force them to accept an

imposed solution (Association for the Advancement of Health

Education, 1992). Health education empowers the client to

choose which information to apply and which behaviors to

perform in their specific situations.


Statement Of The Research Problem


The "educative" and "counseling" functions of genetic

counseling are intertwined. Education is not concerned merely

with knowledge acquisition. Imparting information and

understanding what that information means to clients is an

integral aspect of counseling (Sorenson et al., 1981).

Genetic counselors do not usually follow-up their clients, nor

do they usually have any opportunity, other than their single

encounter with a client, to assess their effectiveness.

Sorenson et al. (1981) found that support personnel, such as

social workers and genetic associates, made no significant or

only very small differences in terms of client education.

Genetic counseling has been documented to be effective solely

on the basis of providing patients with information on

diagnostic issues (Sorenson et al., 1981; Kessler, 1992).

In 1973, the Committee on Genetic Counseling sponsored by

the National Genetic Foundation Inc., reported that little was

known about the optimal methods of delivering genetic

counseling (Fraser, 1974). No studies were located in the

literature that examined the optimal methods of genetic










counseling. This study seeks to answer the following

questions:

1. What are the qualifications and training of professionals

in the southeastern United States who provide genetic

counseling?

2. What are the current roles (i.e. functions, duties, and

contributions) of nurses, genetic associates, and

physicians in the genetic counseling process?

3. What are the perceptions of nurses, genetic associates,

and physicians regarding what their roles (i.e.

functions, duties, and contributions) should be in the

genetic counseling process?

4. What are the educational methods used by these health

professionals in genetic counseling?


Significance Of The Research Problem


One of the leading causes of infant mortality in the

United States is congenital anomalies. In 1900, three percent

of infant deaths were due to genetic disorders. Today,

approximately one-fouth of infant deaths are attributed to

genetic disorders (Office of Technology Assessment, 1988).

This is due primarily to a reduction in total infant deaths.

Congenital anomalies, when they do not result in death,

may cause severe disabilities. Approximately 1 in every 16

infants born in the United States has some form of birth

defect and many chronic health problems have a genetic








10

component. In addition to the personal suffering from the

mortality and morbidity associated with birth defects, the

economic cost of these disorders to society is quite high.

Early identification of people at risk for genetic disorders

provides the opportunity to inform and counsel on preventive

measures, appropriate treatment, risk recurrence, and family

planning.

The increase in genetic technology and the resultant

increase in demand for genetic testing, screening and

counseling have the potential to overwhelm health care

providers. Genetic counseling is still being done primarily

by physicians. However, physicians may neither have the

genetic knowledge nor the time to keep up with the demand for

services (Fraser, 1974). Some counseling problems are so

complex that the services of a professional genetic counselor

are often required. Currently, there is a shortage of

certified genetic counselors in the United States. In the

near future, these counselors probably will not be able to

keep up with the voluminous information brought about by the

new testing and treatmetn technologies (Duster, 1990).

Genetic counseling is still a relatively new profession.

The counseling session is still dominated by presentation of

genetic-medical facts and statistical probabilities (Sorenson

et al, 1981; Kessler, 1992). The educative aspect of genetic

counseling is underemphasized and the health education/patient

education methods and techniques are infrequently and








11

inappropriately used. This study can 1) help programs that

train genetic counselors identify ways to emphasize and to

incorporate health education/patient education principles,

methods, and techniques into their curricula; and 2) help

consumers and other health professionals understand the role

of genetic counselors.

In this study, states in the Southeastern United States

were chosen because 1) this study is part of a larger project

that seeks to determine the social, ethical, and legal aspects

of genetic screening, testing, and counseling in Florida and

Georgia; and Florida and Georgia are included in the

southeastern Regional Genetics Group; 2) historically, there

has been controversy about sickle cell screening and testing

(Duster, 1990); and the large number of African Americans in

these states raise some salient issues about genetic

screening, testing, and counseling in these states. The

results from this study can serve as a pilot for a national

study that examines these issues.


Assumptions


The basic assumptions of this study are that the

participants will honestly and correctly report the required

information. It is also assumed that the instrument will

accurately assess the research variables.










Limitations


Data are generated through self-administered surveys, and

are, therefore, subject to recall error, and self-report

biases. Also the statistical procedures used in the study can

only show association between variables; they do not show

cause and effect.

The limitations of using a mail survey is the low

response rate and the lag time in returning the questionnaire.

A possible limitation is that the sampling frame (directories

from the southeastern Regional Genetics Group, the National

Society of Genetic Counelors, and the American Society of

Human Genetics) may not be complete and up to date. The

genetic facilities and centers listed in the SERGG directory

will be contacted prior to the mailing to verify and update

the employment status of persons listed in the directory.

Membership in most organizations is usually voluntary and it

is probable that some potential subjects are not members in

any of the three organizations. Professional organizations

provide continuing education opportunities for their members;

and membership is usually required to maintain professional

certification/licensure. Therefore, it is believed that the

majority of individuals who provide genetic counseling in the

above listed states will also be members of at least one of

these organizations.








13

Delimitations


This study will be delimited to genetic counselors in

Alabama, Florida, Georgia, Louisianna, North Carolina, South

Carolina, and Tennessee who are members of the Southeastern

Regional Genetics Group, American Society of Human Genetics,

and the National Society of Genetic Counselors. Nationally,

medical genetic centers tend to have universal standards and

protocols. It is not believed that genetic counselors in this

part of the country use different educational and counseling

methods and techniques from their national counterparts.














CHAPTER 2
REVIEW OF THE LITERATURE


Birth Defects: A National Health Challenge


Improving the health of infants is a national challenge.

In 1987, 3.8 million infants were born in the United States;

34,408 of them died before their first birthday (Department of

Health and Human Services, 1990).

Congenital anomalies (birth defects) are a leading cause

of infant mortality in the United States. One-fourth of all

congenital anomalies are caused by genetic factors (Department

of Health and Human Services, 1990). Congenital anomalies

most likely to be lethal include malformations of the brain

and spine, heart defects, and combinations of several

malformations (Department of Health and Human Services, 1990).

Approximately 1 in every 16 infants born in the United States

has some form of congenital anomaly (Duster, 1990); and

congenital anomalies account for about one quarter of all

infant deaths (Office of Technology Assessment, 1988).

Genetic screening and counseling services are tools that

can help the health of the nation's children. There are 23

national health objectives pertaining to maternal and child

health, and at at least 10 national health objectives of

direct concern for geneticists. Three national health

14








15

objectives directly pertain to genetic screening and

counseling:

1. . increase to at least 60 percent the proportion of
primary care providers who provide age-appropriate
preconception care and counseling. (Department of Health
and Human Services, 1990, p. 342)

Preconception identification of couples at risk for offspring

with genetic disorders provides the opportunity to inform and

counsel on appropriate treatment, risk recurrence, and

pregnancy planning (Department of Health and Human Services,

1990).

2. . increase to at least 90 percent the proportion of
women enrolled in prenatal care who are offered screening
and counseling of prenatal detection of fetal
abnormalities. (Department of Health and Human Services,
1990, p. 382)

Prenatal screening is used to identify serious disorders which

have long term consequences for infants and their families.

This allows for early medical interventions and family

planning (Department of Health and Human Services, 1990).

3. . increase to at least 95 percent the proportion of
newborns screened by State-sponsored programs for genetic
disorders and other disabling conditions and to 90
percent the proportion of newborns testing positive for
disease who receive appropriate treatment. (Department of
Health and Human Services, 1990, 384).

Most states screen for genetic and metabolic disorders

and treat or refer for treatment those with a confirmed

diagnosis. Screening for phenylketonuria (PKU) and congenital

hypothyroidism is virtually universal. Universal screening

for sickle cell is recommended, but states with negligible at-








16

risk populations may choose to target their testing program.

Some states also screen for galactosemia (Department of Health

and Human Services, 1990).


The Human Genome Initiative/Human Genome Prolect


With the aid of new technologies, prospective parents can

discover if their fetus will be affected by a genetic

disorder. Though the technology exists for detecting some

genetic disorders, much information about the human genome

remains to be discovered.

Research efforts aimed at creating genetic linkage and

physical maps of chromosomes or entire genomes are referred to

as genome projects (Office of Technology Assessment, 1988).

There are many international genome projects. The United

States' HGI is the largest and most ambitious research in the

history of biology (Dickson, 1989; Office of Technology

Assessment, 1988; Watson and Cook-Deegan, 1990). The 15-year

HGI efforts aim 1) to acquire complete knowledge of the

organization, structure, and function of the human genome, 2)

to map and sequence the 3 billion base pairs that make up the

human genome, 3) and to construct common resources for the

study of human genetics (Dawson & Singer, 1990; Dickson, 1989;

Goodman, 1990; Office of Technology Assessment, 1988; Watson

& Cook-Deegan, 1990).

The HGI in the United States is funded by the Department

of Energy (DOE) and the National Institutes of Health (NIH)








17

National Center for Human Genome Research (NCHGR) (Office of

Technology Assessment, 1988; United States Department of

Energy, and Office of Energy Research, Office of Health and

Environment Research, 1992). The DOE's involvement in the

project stems from a congressional mandate to monitor

inherited damage caused by exposure to radiation and other

environmental hazards (Cantor, 1989). The DOE will focus on

mapping the genome, developing the sequencing technologies and

instrumentation, and collecting and analyzing data. The DOE

also will study the ethical, legal, and social issues arising

from the use of data generated by the project (Roberts, 1991;

United States Department of Energy, and Office of Energy

Research, Office of Health and Environment Research, 1992).

The NIH will map and sequence the genomes of model organisms,

ranging from yeast to the mouse (Roberts, 1991). Many genes

are conserved among model organisms, and it is easier to study

and eventually understand them in yeast than in human

(Roberts, 1991). The completion of physical maps of

Escherichia coli showed the feasibility of this project

(Cantor, 1989).

In October, 1991, scientists began work on the project's

first stage. This stage, to be accomplished in five years, is

to generate a physical map of the human genome (Dawson and

Singer, 1990; Goodman, 1990). The fundamental physical and

functional unit of heredity is the gene; and the chemical

bearer of genetic information is deoxyribonucleic acid (DNA).








18

The DNA of humans is associated with protein in chromosomes.

The genome of an organism is the entire complement of genetic

material in the set of chromosomes (Office of Technology

Assessment, 1988).

Human DNA consists of a sequence of 3 billion pairs of

nucleotide bases. Each normal human carries 46 chromosomes.

Forty-four of these are paired into twenty-two sets of

identical chromosomes, called autosomess." Each parent

contributes one-half of the twenty-two sets. In addition,

there are two sex chromosomes, called "X" and "Y" chromosomes.

Each parent provides a single sex chromosome to the fetus.

Males usually have one X and one Y chromosome; and females

usually have two X chromosomes. When the proposed physical

map is completed, it will include the DNA of each of the 24

chromosomes with their identifying markers (Dawson & Singer,

1990; Duster, 1990; Office of Technology Assessment, 1988).

The second stage of the project is to sequence the DNA

between the markers on the physical map and to define the

function of all the genes in human DNA. (Dawson & Singer,

1990). This stage will probably take twice as long as the

first. It will assist biomedical researchers in their assault

on diseases through more effective methods of detecting

disease, and hopefully, through development of effective

therapies based on improved understanding of disease mechanism

(Office of Technology Assessment, 1988). The new technologies

will also help in the assessment of public health needs by








19

permitting the detection of mutations following exposure to

radiation or environmental agents. Information about DNA

sequences is essential if we are to understand the genetic

basis of inherited diseases such as Duchenne's muscular

dystrophy and Huntington's disease, and chronic illnesses such

as heart disease and cancer (Dawson & Singer, 1990; Watson &

Cook-Deegan, 1990). Advances in this technology have already

provided insights into the origins of diseases such as sickle

cell disease, hypercholesterolemia, and hemophilia (Office of

Technology Assessment, 1988).

Deeply rooted beliefs about the political and moral

neutrality of scientific discoveries have tended to preclude

social debate about the role of power in determining and

applying scientific knowledge (Duster, 1990; Nelkin &

Tancredi, 1989). As genome projects are undertaken, their

long range social and ethical implications need to be

considered as part of policy analysis (Office of Technology

Assessment, 1988). Ethical questions about personal freedom,

privacy, and societal versus individual rights of access to

genetic information are among the most important ones raised

by the HGI. The potential uses and abuses of the biological

information to be gained from the HGI also raise many


concerns.








20

The main social concern is that eugenics programs will be

reincarnated (Duster, 1990; Nelkin and Tancredi, 1989). The

term "eugenics" refers to the prevention of reproduction of

the unfit and the encouragement of reproduction of the fit

(Ludmerer, 1972). At the beginning of this century, with the

rediscovery of Mendel's classic paper of 1866, many scientists

began to look at its social impact and potential applicability

to social problems (Ludmerer, 1972). The work of American

geneticists and eugenicists was not easily distinguished

during this era (Duster, 1990).

Eugenicists possessed a racial as well as a class bias.

They were evolutionists who regarded the Anglo-Saxon or

Nordicc" race as nature's "fittest race" (Ludmerer, 1972).

The stage was set for this movement by the eighteenth and

nineteenth century idea of human perfectibility and from

Darwin's work on the survival of the fittest. As a response

to eugenic ideals in the United States, the Eugenics Record

Office was started at Cold Spring Harbor, Long Island, New

York, in 1910 (Haller, 1963; Ludmerer,1972).

The German eugenics movement also began at the turn of

the century. With the advent of Hitler, the eugenics movement

in Germany was inextricably interwoven with the Nazi regime

(Ludmerer, 1972). Ideas of race and or Aryan superiority were

fundamental components of the Nazi culture. In 1933, Hitler

decreed the Hereditary Health Law, or Eugenic Sterilization

Law, which was designed to ensure that "inferior genes" were








21

not passed down to members in the Third Reich (Ludmerer,

1972).

In the United States, many eugenicists were able to

influence social policy; and in 1924, the United States passed

a law that regulated the racial and ethnic composition of its

immigrants and sealed its racial and ethnic composition

(Duster, 1990). The United States rationalized the use of

eugenic ideals in setting immigration quotas in order to

improve and enhance the "perfect society." This was the new

eugenics. Today, geneticists such as Margaret Shaw (1984)

believe that the law should control the spread of genes that

cause severe deleterious effects.

Duster (1990) is concerned that the eugenics of the

latter part of this century will "not come through the front

door, as with Hitler's Lebensborn project. Instead "it will

come by the back door of screens, treatments, and therapies"

(p. x). To date, hundreds of genetic markers indicating

predispositions to hereditary diseases have been identified.

In addition, there have been increasing studies on the genetic

basis on phenomena such as mental illness, alcoholism, and

crime (Duster, 1990; Nelkin & Tancredi, 1989). These studies

may someday be the basis for preventive or therapeutic

actions. However, the potential exists for misuse by schools

and third party payers such as insurance agencies and

employers (Nelkin & Tancredi, 1989).








22

HGI research is fully funded by the federal government

and is very costly. In 1991, the project's budget was $135

million, $87 million of which went to the NIH (Roberts, 1991).

The major concern with the funding of the HGI is that a large

portion of these funds came from a redistribution of NIH

funds, funds that support other biological and medical

research (Sillence, 1990). Another concern is the

commercial value of genome sequences which has already been

recognized by companies that have applied for patents on a

number of specific materials and techniques (Office of

Technology Assessment, 1988). The Office of Technology

Assessment (1988) has noted that:

. the potential loss of critical data held by private
parties, the duplication of effort, and the control of
knowledge raise serious questions about a combined scheme
of public versus proprietary holding of fundamental
knowledge. There is a strong argument that parts of
research that are funded publicly should yield public
information, while allowing scientists and others to
retain the benefits of commercial exploitation of
inventions. (p. 83)

The DOE has set aside three percent of its budget to study and

analyze the social, ethical, and legal implications of genome

research (Watson & Cook-Deegan, 1990).


Health Education


The field of health education is the applied social

science concerned with behavioral and lifestyle aspects of

human disease (Bates & Winder, 1984). It is concerned with

voluntary changes that affects status and has rejected the








23

traditional public health prescriptive of "should do or ought

to do" (Green, 1976; Bates & Winder, 1984).

Health education is the term used to describe the planned

use of educational processes to attain health goals (Bureau of

Health Education, 1978). Health education attempts to close

the gap between what is known about optimal health practice

and that which is actually practiced. Green & Kreuter (1990)

defines health education as "any combination of learning

experiences designed to facilitate voluntary actions conducive

to health" (p. 17). This definition: 1) emphasizes the

importance of matching the multiple determinants of behavior

with multiple learning experiences; 2) distinguishes health

education from incidental learning experiences; and 3)

emphasizes voluntary means without coercion.

Issues of concern to education also are related to health

education (Association for the Advancement of Health Education

(AAHE), 1992). Education is not concerned merely with the

acquisition of information. The individual is expected to

apply that information in order to develop responsible

personal, family and collective behaviors (AAHE, 1992).

Health education also goes further than the provision of

information. The Bureau of Health Education (1978) notes:

. while health education includes acquiring knowledge
about health matters, its purposes is the use of that
knowledge. It addresses the formation of values, the
acquisition of decision-making skills and the adoption or
reinforcement of desirable health practices. Health
education honors individuals' right to privacy, their
right to meaningful information, and their right to make
their own choices. (Health Education Bureau, 1978, p. 4)








24

Health education contributes to the total education of the

individual by providing meaningful experiences which can

positively influence health behavior and facilitates the

primary prevention of health problems (Green and Kreuter,

1990). Health educators assist the client in making informed

decision about health and provide them with the skills to

implement the decision.

Today's chronic diseases do not lend themselves to

passive measures of prevention. Health education aims to

decrease, eliminate, or modify negative health behaviors and

to foster those that positively influence health. Derryberry

(1952) stated that the aim of health education:

. is to help people to achieve health by their own
actions and efforts. Health education begins therefore
with the interests of people in improving their
conditions of living and aims at developing sense of
responsibility for their own health betterment as
individuals, an as members of families, communities or
governments. (p. 1)

Some health educators view the ultimate goal of health as

liberating an individual's potential strengths so that

personal actions become deeply satisfying and constructive

(AAHE, 1992; Greenberg, 1978; Walker & Bibeau, 1986).

Greenberg (1978) proposes that the task of health education is

"to free people so that they make health-related decisions

based upon their needs and interests as long as these needs

and interests do not adversely affect others" (p. 20). This

view of health education respects the human being's

consciousness and cultural dynamics which is necessary for








25

understanding health in a democratic society (Walker & Bibeau,

1986).

Health education shares the philosophical perspective of

public health that health is a personal and societal issue and

that planned social change is both useful and desirable when

it promotes the public good (AAHE, 1992; Bates & Winder,

1984). This philosophy means that people may be asked to

alter their lifestyles for the larger "public good" (Bates and

Winder, 1984). AAHE states:

". . health education as both process and program,
influences individual, family and societal development,
knowledge, attitudes and behavior. It seeks the
improvement of individuals, family and community health"
(AAHE, 1992 p. 4)

Thus, another goal of health education is to provide consumers

with the skills to judge messages in terms of their potential

benefit to self and society (AAHE, 1992). The two main

challenges to health education is 1) maintaining the

individual's freedom while achieving desirable social ends;

and 2) changing individual and group behavior while

reinforcing individual responsibility (Bates & Winder, 1984).

The critical outcome of a health education intervention

is that the client possess the understanding, skills, and

experience needed to make and implement informed health

decisions (Shireffs, 1984). Effective health education may 1)

produce changes in understanding or ways of thinking; 2) bring

about some shift in belief or attitude; 3) influence or








26

clarify values; 4) facilitate the acquisition of skills; and

5) effect changes in behavior or lifestyle (Tones, 1990).


Genetic Counseling


Genetic counseling is the current approach to educating

and perhaps preventing many genetic diseases (Griffiths,

1983). Imparting information and understanding what that

information means to clients is an integral aspect of genetic

counseling (Kelly, 1986; Sorenson 1981). Therefore, genetic

counseling can be viewed as a form of health education, and

the philosophical and theoretical issues which affect health

education also affect genetic counseling.

Kelley (1986) views the purpose of genetic counseling as

the maximal use of medical technology to reduce the incidence

of genetic disorders, and hence, the financial impact on

society. Shaw (cited in Lubs & de la Cruz, 1977) suggests

that the two broad aims of genetic counseling are: 1) to

promote societal goals by encouraging rational decision

making, and 2) to protect individual autonomy by encouraging

counselees to make their own decisions, whether rational or

not. Shaw's outline of the objectives of genetic counseling

is presented in Table 2-1.

There are numerous definitions of genetic counseling.

March of Dimes Birth Defects Foundation (1980) defines genetic

counseling as follows:

. genetic counseling provides and interprets medical
information based on expanding knowledge of human








27

genetics, the branch of science concerned with heredity.
Its major goal is to convey understanding of birth
defects to affected families and enable prospective
parents to make informed decisions about childbearing.
(p. 5)

According to this definition, what is called "genetic

counseling" can have either of two foci. First, genetic

counseling can concentrate almost exclusively on transmitting

medical-genetic information. If that is the case, Sorenson et

al. (1981) note that genetic counseling would be better

defined as a "medical-genetic consult or seeing a medical

geneticist" (p. 144). Second, genetic counseling can focus on

the broad range of psychosocial and emotional issues that are

presented in the counseling session. Genetic counselors who

accept a larger definition of their role will focus on both of

these aspects (Kelley, 1986; Sorenson et al. 1981).

Kelley defines genetic counseling as:

S an educational process that seeks to assist
affected and/or at risk individuals to understand the
nature of the genetic disorder, its transmission and the
options available to them in management and family
planning. (p. 343)

Kelley (1986) believes that other definitions suggest a

counseling role beyond the expertise of most genetic

counselors and make unrealistic demands on them.

Fraser (1974) offers a more comprehensive definition of

genetic counseling:

. genetic counseling is a communication process which
deals with the human problems associated with the
occurrence, or the risk of occurrence of a genetic
disorder in a family. This process involves an attempt
by one or more appropriately trained persons to help the
individual or the family to (1) comprehend the medical








28

facts, including the diagnosis, the probable course of
the discourse and the available management; (2)
appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives; (3)
understand the options for dealing with the risk
recurrence; (4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that decision;
and (5) make the best possible adjustment to the disorder
in an affected family member and/or to the risk of
recurrence of that disorder. (Fraser, 1974, p. 637)

This definition provides a broad and complex mandate for

genetic counseling and is almost exclusively oriented to

genetic counseling as a multidisciplinary team approach. This

definition provides a useful perspective on how genetic

counseling is viewed by many providers today (Sorenson et al.

1981).

Experts distinguish among genetic counseling, genetic

diagnostic procedures, and clinical management of the disease.

For example, amniocentesis and CVS are prenatal diagnostic

procedures; biochemical or cytogenetic tests are diagnostic;

taking a family history and discussing the implications for

future pregnancies is genetic counseling; and pregnancy

termination is clinical management (Fraser, 1974). It is

almost impossible to draw a line as to where diagnostic

procedures stop and genetic counseling begins (Fraser, 1974).

Kelley (1986) identifies six elements of genetic

counseling:

1. Understanding of the Natural History and Treatment of the

Disorder Under Consideration. The extent of this








29

discussion will depend on the counselee's prior knowledge

and experience with the disorder.

2. Understanding the Applicable Genetics. The particular

mechanism by which the genetic disorder may follow a

familial pattern and modes of inheritance are discussed.

3. Understanding of the Risks in Probabilistic Terms. The

risk of disease recurrence is discussed in numerical

terms.

4. Understanding of the Available Options. The couple is

provided with a list of available options and the merits

of each option is discussed. These may include having no

further children, taking a chance, adoption, abortion,

and artificial insemination.

5. Assistance with Decision Making. The role of the

counselor is to provide the couple with factual

information and help them through the decision-making

process but not direct their thinking along a particular

course of action.










Table 2-1 Genetic Counseling Objectives


A. Directed at the affected individual

1. Decrease the pain and suffering of the disease

2. Advise if treatment is possible

3. Quote risk figures for offspring and other
relatives

4. Reduce anxiety and guilt

5. Help patient cope with affliction

B. Directed at the parents

1. Help couples make rational decisions about their
reproduction

2. Give family planning options to at-risk matings

3. Reduce anxiety and guilt in parents

4. Educate the parents about the disease in question

5. Discourage high-risk couples from making their own
decisions

6. Discourage high-risk couples from reproducing

C. Societal goals

1. Eliminate genetic disease

2. Prevent genetic disease

3. Reduce the incidence of genetic disease

4. Reduce the burden of genetic disease

5. Decrease the frequency of deleterious genes

6. Upgrade awareness of genetics in the public

7. Influence mate selection

Source: Lubs and de la Cruz, 1977, p. 36.








31

6. Assistance in Proceeding with the Selected Options. The

counselor ensures that the couple receive the necessary

professional referrals.


Counseling refers to "any person-to-person relationship

in which helpers know their own limits, provide what

assistance they can, and are able to recognize situations

requiring services beyond their ability to render" (Litwack et

al., 1980). Litwack et al. believe that all counseling is

health counseling because counseling enables individuals to

promote their own well-being, which involves emotional,

intellectual, physical,social, and spiritual health.

As with health counseling, genetic counseling generally

takes one of two approaches, directive and nondirective

(Kelley, 1986). Directive counselors usually recommend a

course of action, in addition to presenting the medical facts.

They may also direct the couple's choice through a

preconceived limitation on options from which the couple might

choose (Kelley, 1986).

In nondirective counseling, genetic counselors do as much

as possible to not communicate their personal opinions,

prejudices, and biases concerning what decision a couple

should make (Duster, 1990). Nondirective counseling assumes

that the couple is free to make their own decisions based on

understood risks and options and that the role of the








32

counselor is educational. This latter approach is the

recommended for use by genetic counselors (Kelley, 1986).

Although the nondirective counseling approach is

recommended, some practitioners advocate a directive approach,

even suggesting whether a couple should or should not bear

children (Emery, 1977; Falls, 1959; Fuhrmann & Vogel, 1969;

Kallman, 1959; Townes, 1970). Some genetic counselors have

indicated that directive counseling may be appropriate under

some circumstances. Czeizel et al. (1981) suggest that

whether one uses the directive or nondirective approach may

depend on (1) the general needs of the clients; (2) the

couple's education, gender, age, etc.; (3) the actual

possibilities (e.g. the time and atmosphere); (4) the legal

protection of the counselor; and (5) the efficiency of the

counseling.

Czeizel et al. (1981) used directive counseling, which

they called "information-guidance," in a family planning

clinic in Hungary to deter women who were at moderate or high

risk for delivering a child with a genetic disorder. The

recommendations made to women who wanted a child or further

children were based upon: 1) the burden of expected disorders;

2) the possibilities of treatment; 3) the possibility of

prenatal diagnosis; 4) the specific genetic or teratogenic

risk; 5) the socioeconomic conditions of the family; and 6)

the maternal risk during pregnancy. Based on the above

guidelines, this study found a high deterrent rate among women








33

whose future pregnancies needed serious consideration or were

not recommended.

In their study, Somer et al. (1988) found that although

the counseling was aimed at being as nondirective as possible,

a considerable proportion of the counselees felt that some

type of recommendation had been given. Twenty-five percent of

the respondents stated that they had been encouraged to have

(more) children, whereas two percent felt that they had been

told not to do so. Forty-two percent of the respondents

reported that they wanted to know the medical facts, as well

as the counselor's/physician's opinion. The researchers noted

that many families may still expect the counselor to assume

the traditional role of the physician by advising patients on

what actions to take. Others wanted to hear what decisions

other families have made in a similar situation.

In 1969, the World Health Organization recommended a

neutral presentation of recurrence risk and other medical

facts as well as follow-up to evaluate whether advice given

had been followed (Shaw, 1977). Griffin (1983) notes that

"neutral" and "advice-giving" are not seen as contradictory

among genetic counselors. Griffin (1983) attempts to explain

this apparent contradiction by stating that counselors are

indeed directive with a preventive goal, but due to their

clinical orientation they see prevention as beneficial to

those counseled, and perhaps only marginally beneficial to

society.








34

Clarke (1991) claims nondirective genetic counseling is

"a sham, not because of a personal failure on the part of the

genetic counselor but as a direct structure of the encounter

between counselor and client" (p. 998). Clarke contends that

an offer of prenatal diagnosis implies a recommendation to

accept that offer, and a tacit recommendation to terminate a

pregnancy if any abnormality is found. "This sequence of

events is present irrespective of the counselor's wishes,

thoughts and feelings because it arises from the social

context rather than the personalities involved" (Clarke, 1991,

p. 1000).

The President's Commission for the Study of Ethical

Problems in Medicine and Biomedical and Behavioral Research

(1983) states:

. despite its history and rationale, nondirective
counseling is challenged on a number of grounds, first,
genetic counseling is being drawn more closely into the
practice of medicine, and the emphasis on
nondirectiveness contrasts with traditional medical
practice, in which physicians are more likely to suggest
which course of action they consider preferable. Second,
some people who receive genetic counseling exert pressure
toward directiveness. (p. 37-38)


Counselors should be able to distinguish between a real

breakdown in the counselee's reasoning ability and poor

judgement (The President's Commission for the Study of Ethical

Problems in Medicine and Biomedical and Behavioral Research,

1983). The commission also cautions counselors against

treating as "irrational" any counselees' decision with which

they disagree. Principles of genetic counseling developed by








35

genetic counselors at a workshop at Sarah Lawrence College are

given in Table 2-2.

The gender of the counselor may influence the counseling

approach, the counseling process and perhaps its outcome

(Wertz & Fletcher, 1988; Zare, 1984). Wertz & Fletcher found

male counselors favored more directive approaches to

counseling than female counselors. Males were 1.9 times more

likely than females to consider it appropriate to inform

client what most other people have done; 4.6 times more likely

to consider it appropriate to inform clients what they would

do in their situation; and 6.9 times more likely to advise

clients what to do.

In 1973, the National Genetics Foundation reported that

the optimal methods of delivering genetic counseling services

was not known (Fraser, 1974). These optimal methods are still

not known. However, In 1989, participants at a workshop at

Sarah Lawrence College offered principles and concepts that

should govern the choice of techniques and content of genetic

counseling sessions (see Table 2-2).










Table 2-2 Principles of Genetic Counseling


1. Educate the patient about what to expect in a genetic
counseling session:

a. explain to the patient how genetic counseling
differs from other medical advice-giving

b. introduce the concept of nondirectiveness

c. identify the "patient as the family, not just
the individual

d. contract with the patient

e. describe the ingredients of the genetic evaluation

f. establish the potential for either a short- or
long-term contact allowing for flexibility

g. acquaint the patient with the notion of genetic
counseling as a comprehensive service including
medical, educational, and psychosocial aspects

h. establish the role of the patient as the decision-
maker

2. Recognize the aspects of "crisis" inherent in the
diagnosis of a genetic or potential genetic condition:

a. be emotionally and physically available during
crisis periods

b. acknowledge and address the stress of the situation

c. plan support for events anticipated to be anxiety-
provoking

d. prepare the patient in advance for the possibility
of uncertain or shocking information

e. relay information in a timely manner

f. gather resources and tools for diagnosis and
supportive counseling in advance of a crisis
whenever possible










Table 2-3--continued


g. utilize one's experience of dealing with families
in a similar situation to advise
individuals/couples of ways that they might
successfully cope with the crisis. (This does not
mean advising people as to what decisions they
should make).

3. Cooperate with other medical personnel and specialists to
ensure the correctness of the diagnosis and that accurate
information is given to the patient:

a. obtain a complete and accurate family and medical
history

b. review medical records with appropriate specialists

c. consult with colleague to obtain relevant tests,
examinations, etc.

d. use multiple sources of medical information

4. Address the patient's concerns about reproductive
decisions and options and planning for child-rearing:

a. provide accurate and complete information about the
natural history of the condition in question

b. identify the reproductive options available to the
individual/family and put them in a personalized
context

c. help the patient to hypothesize a variety of
outcomes based on possible family planning
decisions and to evaluate the impact on the entire
family
d. help the patient to recognize and understand the
emotional, cultural, and religious factors that may
influence decision-making

e. clarify the patient's understanding of probability

5. Provide support for the patient who is dealing with
situations outside his/her previous range of experience:










Table 2-3--continued


a. normalize the patient's feelings by being non-
judgmental and by comparing the patient's feelings
and responses to those of others who have been in
similar circumstances

b. provide anticipatory guidance to the patient by
drawing upon one's experience with other
individuals, but also by articulating one's
recognition of individual differences in the ways
people deal with similar situations

c. identify and reinforce coping strategies and
introduce new strategies where necessary

d. help the patient to organize and anticipate
feelings and emotional tasks

e. help individuals to identify similarities between
the "new," stressful situation and other more
familiar and "normal" occurrences

f. help family members to communicate in a
constructive way in order to facilitate resolution
of differences and maximize mutual support

g. help the patient to identify to identify his/her
own support systems and to utilize them in a
constructive way

6. Recognize and explore the emotions inherent in the
genetic counseling process:

a. understand the source of anger and help patients to
recognize and resolve it

b. differentiate between the anger of the patient
toward his/her situation that may be projected to
medical personnel and anger that is justifiably
directed at health professionals because of
deficits in care (including the genetic counselor)

c. provide an environment that allows the patient to
express any and all emotions

d. help couples to understand the different, but
legitimate, ways in which they may respond to
situation










Table 2-2-continued


e. explore the emotional content of medical and
statistical information

f. explore the emotional milieu in which decisions
will be made and the emotional factors influencing
those decisions

g. assess the need for further supportive counseling
by other mental health professionals

h. utilize the expertise of other health professionals
as a resource for improving one's own handling of
the patient's emotions

i. alleviate feelings of guilt and anxiety

j. explore the psychological history of the patient in
an effort to appreciate

k. give "permission" to the patient to feel and
express negative feelings

1. provide a flexible "timetable" that will give the
patient and idea of how he/she may expect to feel
following the event in question

m. include in this "schedule" the notion that the
patient will feel better, that he/she will not
always feel this way, but that it is O.K. to feel
terrible now

n. help patient to recognize that even though he/she
may not feel that he/she is coping, there may be
ways in which he/she is actually coping quite
successfully

7. Facilitate decision-making

a. facilitate communication between partners and/or
other members of a family

b. identify and utilize familiar family communication
patterns

c. elicit from the patient his/her preferred course of
action and help him/her to move toward implementing
this course










Table 2-2--continued

d. help the patient to identify all factors that will
influence the decision-making

e. recognize the difficulty of making decisions in the
face of uncertainty or ambiguity

f. help members of a couple understand their
differences and come to a mutually acceptable
decision if possible

g. address the uncertainty a patient may have about a
particular course of action or a decision

8. Respect the autonomy and decision-making capacity of the
patient:

a. establish the patient's role as a partner in the
genetic counseling process/case planning

b. assume a nondirective stance in the decision-making
process

c. refuse to answer the question, "What would you do
if you were in my shoes?"

d. help patients arrive at decisions that are
consistent with their own value systems

e. support the patient's belief that he/she is the one
best suited to make whatever decisions are
appropriate

f. help the patient to accept that he/she has made the
best decision for him/her given the available
information, options, and personal values

g. respect the patient's right to his/her own medical
information and the right to a complete explanation
of the relevant facts

h. respect the patient's wishes concerning who should
participate in the genetic counseling sessions

9. Respect the patient's experience, knowledge, and values
as valid bases for decision-making:

a. elicit the patient's personal experience of medical
events










Table 2-2-continued

b. learn from each patient and, in turn, educate other
health professionals

c. avoid presumptions about the patient's experience
and/or point of view

d. remain open to the patient's correction of one's
own perception of the situation

e. elicit the patient's interpretation of the
situation and accept the validity of the
interpretation, even if it differs from one's own

f. utilize the patient's own terminology

g. use feedback from the patient to assess and revise
the counseling approach

h. encourage the patient's active participation in
determining the pace and process of counseling

i. elicit from the patient cultural influences on the
decision-making process and coping strategies

j. understand the ways ion which a marital or other
significant relationship influences the decision-
making process

k. appreciate the ways in which other important losses
may affect the ability to make decisions and to
cope with the current situation

10. Adapt the giving and gathering of information to the
individual needs of the patient:

a. elicit the patient's knowledge about the
condition/situation before giving information

b. learn something about the emotional, educational,
social, and cultural background of the patient
before giving information, and utilize terminology
that is comprehensible to him/her

c. allow the patient to control the specific
information he/she receives and the time frame
within which he/she receives it










Table 2-2--continued


d. adapt the information-giving to the individual
needs of the patient with respect to its emotional
content and potential impact on the family

e. communicate genetic concepts in comprehensible
terms, with patience and repetition, and utilize
diagrams and other more innovative methods to
illustrate these concepts

f. assume that the patient is competent to understand
the information if it is communicated in an
appropriate manner, and that it is the
responsibility of the counselor to make him/herself
understood

g. address the patient's expressed concerns for
information at the beginning of the information-
giving period if at all appropriate

11. Act as advocate for the patient

a. educate other health professionals about the needs
of patients with genetic disease

b. act as liaison between the patient and outside
agencies or educational institutions to ensure
optimal care for the patient

c. intervene, wherever possible, to minimize the
emotional discomforts of patients undergoing
various procedures such as prenatal diagnosis or
termination of pregnancy

d. cooperate with other health professionals to
alleviate emotional distress at the time of a loss
or painful diagnosis

e. convey to patient one's willingness to advocate on
their behalf

12. Work consistently toward empowering patients to make
autonomous decisions and to advocate on their own behalf

a. reinforce existing skills and problem-solving
strategies

b. encourage patients to generate solutions and test
them










Table 2-2-continued

c. give patients an opportunity to test their self-
advocacy skills prior to implementing them in a
"real" situation

d. help patients to identify advocacy roles that are
manageable for them

e. express confidence in the patient's ability to be a
successful advocate

f. address the patient's anxiety about being an
advocate

13. Maintain surveillance over one's own biases and values:

a. be aware of the ways in which one's own biases and
values may interfere with recognizing the autonomy
of the patient

b. be aware of the ways in which one's own experience
and emotional conflicts may influence the giving of
information

c. discuss troubling cases with associates whenever
possible to retain an objective point of view

d. probe one's own psyche for clues to unconscious
biases

e. recognize the differences between oneself and the
patient that might interfere with the counseling
process

f. articulate, if necessary, to the patient some of
these differences and reassure patient that these
differences need not adversely influence the
counseling nor the quality of care

g. encourage the patient to be open about his/her
feelings of being coerced or directed

h. assume a nondirective stance with respect to the
patient's decision making

14. Utilize an interviewing format that is designed to take
account of all the aforementioned principles:

a. ask open-ended questions










Table 2-2-continued

b. allow questions to reflect one's wish to understand
the patient

c. employ questions that do not covertly or overtly
express one's own presumptions about the patient or
the situation

d. ask questions that demonstrate one's awareness that
there are potentially many different possible
answers

e. choose language carefully to avoid unnecessary
anxiety-provoking emotional content

f. take cues from the patient with respect to his/her
preference for specific terms

g. encourage a dialogue with the patient rather than
engaging in a one way "teaching" format

h. respond openly to questions asked by the patient


Source: March of Dimes, 1989, pp. 137-142.










Genetic Counselors


Genetic counselors have diverse educational credentials

and background experiences. Persons who provide genetic

counseling include master's trained genetic associates,

nurses, social workers, and physicians (Kelley, 1986; National

Society of Genetic Counselors, Inc., 1991). Genetic

counseling is still primarily done by physicians, not by

master's trained genetic counselors (Kelley, 1986; Sorenson,

1981).

In a survey of 203 genetic counselors, Sorenson (1981)

found the largest percent of counselors (58.6 %) were

physicians. An additional 8% held MD/PhD degrees. Thus,

about two-thirds of the counselors held medical degrees. The

second largest group of counselors (19%), held master's level

genetic associate degrees. It can, therefore, be inferred

that genetic counseling is very much a medically based

activity, practiced mostly by medically trained professionals.

In order to maximize their effectiveness as genetic

counselors, Davis (1984) suggests that MD/PhD geneticists

obtain a full psychosocial history to gain appropriate

insights into the prospective counselee's expectations,

emotional state, cultural beliefs, level of education,

economic status, and family structure.

Nurses deliver more community and maternal child health

services than any other group of health care providers

(Schmerler and DeConstanzo, 1992). The nurse's role in the








46

care of a family with a genetic disorder include: 1)

screening; 2) assessing both physical and psychosocial

responses; 3) referring to supportive services; 4)

providing direct care; 5) diet counseling; and 6) teaching the

child, family, and other health professionals (Feetham, 1984).

Course work in human genetics is absent from the nursing

curriculum, and information on genetics is only sporadically

offered in nursing education (Feetham, 1984). Mertens et al.,

1984) reported that 96.5% of nurses had less than 10 hours of

genetics in their curriculum; and 70% of nursing instructors

never had a college-level genetics course. However, Feetham

notes that most nursing education does include content and

practice emphasis on the psychosocial/counseling aspect of

care. Feetham suggests that any deficient needs in the

cursing curriculum can be met through continuing education,

supervised clinical experiences, and didactic content in

degree programs at the graduate or undergraduate level.

As part of the genetic team, the social worker focuses on

the psychosocial aspects of genetic counseling, assesses

social service needs, makes appropriate referrals, acts as a

case manager, and offers crisis intervention during

exacerbation of the disorders and during the terminal stages

of bereavement (Rauch, 1988). Since courses in human

genetics are not part of the social work curriculum, it is

recommended that 1) all graduate social workers have a working

knowledge of genetic diseases, their etiology, and their










consequences; 2) graduate schools of social work develop core

curriculum and field practice experience in human genetics;

and 3) continuing education areas in genetics be offered

regularly (Bishop, 1984).

Until the early 1970s, physicians with an interest in

genetics or PhD geneticists with an interest in medicine were

the professionals who almost exclusively provided genetic

counseling (President's Commission for the Study of Ethical

Problems in Medicine and Biomedical and Behavioral Research,

1983). In the 1970s, genetic counselors/genetic associates

with master's degrees emerged in response to a substantial

increase in demand for screening and counseling. It was found

that genetic associates could successfully provide many of the

genetic services--history, pedigree construction and analysis,

literature review, counseling, education, and referral--once

supplied by physicians (President's Commission for the Study

of Ethical Problems in Medicine and Biomedical and Behavioral

Research, 1983; Rollnick, 1984).

The first master's degree genetic counseling program was

founded at Sarah Lawrence College in Bronxville, New York in

1969. The goals of the program were to develop a cadre of

trained clinical genetic counselors and to make the delivery

of genetic services more efficient (Rollnick, 1984).

Currently, 16 training programs in the United States and one

each in Canada, England, and South Africa offer Master's of

Science degrees in genetic counseling. There are four








48

programs that offer a clinical nurse specialist in genetics

tract within a master's level nursing program. Mt. Sinai

Hospital in New York offers a genetic counseling certification

program for individuals who already hold a master's or

doctoral degree in a related field (National Society of

Genetic Counselors, Inc., 1991).

Programs that train master's level genetic counselors

require fundamental preparation in the basic principles of

molecular and human genetics, and understanding of the

phenotypic expression of human hereditary diseases (Marks,

1984). In addition counselors must have a sound foundation of

knowledge about genetic disorders, how they are diagnosed, how

they are transmitted, and the clinical implications of

specific disorders. They also must be skilled in transmitting

this information in a meaningful way (Marks, 1984). A two-

year Human Genetics Program curriculum from the Sarah Lawrence

College is shown in Table 2-3.

The varied training and background of persons who do

genetic counseling led to a certification process. The

American Board of Medical Genetics administers separate tests

for several categories of genetic professionals, including

Ph.D. geneticists, medical geneticists, medical geneticists,

and genetic counselors (President's Commission for the Study

of Ethical Problems in Medicine and Biomedical and Behavioral

Research, 1983). Ninety-nine are certified by the American

Board of Medical Genetics or are eligible for certification.











Table 2-3 Human Genetics Program--Sarah Lawrence College


Mendelian and Molecular Genetics
or Seminar in Human Genetics

Human Physiology and Anatomy

Biochemistry

Lab Techniques in Human Cytogenetics
and Human Biochemical Genetics

Introduction to Medicine

Medical Genetics

Issues in Genetic Counseling

Seminar in Technique of Genetic Counseling

Client Centered Counseling

Fieldwork


Supervised Clinical Training


1 semester


2 semesters

1 semester


1 semester

1/2 semester

2 semesters

3 semesters

2 semesters

1 semester

4 credits
(200 hours

8 credits
(400 hours)


Source: Marks, 1984, p. 23








50

There are 725 full and associated members in the National

Society of Genetic Counselors (National Society of Genetic

Counselors, Inc., 1991). Ninety-nine percent of these are

females and 95% are white (Robertson, 1990). The preparation

and training of these counselors, as well as their ethnic and

socioeconomic status, may affect the counseling process and

the meaning and salience of the information provided to the

counselees (Kessler, 1992a).

Many genetically determined disorders are expressed in

such a limited manner that genetic counseling and medical care

are provided by a single medical specialist. For example,

"families with hemophilia or sickle cell disease usually are

counseled by a hematologist, and those with isolated

congenital heart disease by a cardiologist" (Kelley, 1986, p.

347). Master's trained genetic counselors can enhance the

quality of counseling by acting as consultants and educational

resources to these medical specialists who also provide

counseling (Kelley, 1986).

No single individual can provide appropriate genetic

counseling in all, or even most, situations (Kelley, 1986).

Many genetic counselors are a part of a multidisciplinary team

that may include clinical geneticists, pediatricians,

obstetricians, neonatologists, social workers, and nurses

(Kelley, 1986; National Society of Genetic Counselors, Inc.,

1991). Though some overlapping of roles occur, each

discipline offers a different clinical perspective and










provides different insights to the counseling process (Davis,

1984). A team approach to genetic counseling has many

advantages:

1. It provides a comprehensive approach to diagnosis and

treatment.

2. It is convenient for the family and is less disruptive of

the family's work and other routine.

3. It facilitates communication among the team members,

decreases duplication of services, and increase

efficiency or care and implementation of services.

4. It increases the quality of care provided to patients

(Chin & Falk, 1990).

If a team approach is used, then the team members' roles

should be clearly delineated from the start (Davis, 1984).


Role Of The Genetic Counselor

Genetic counselors have two basic roles: information

giver and sympathetic supporter (Sorenson et al., 1981;

Kelley, 1986; Duster, 1990). The information-giving function

is at the heart of genetic counseling. As information-giver,

the genetic counselor usually educates the counselees on risk

recurrence, diagnostic issues, or both (Kessler, 1992a). The

emphasis on information-giving is based on the idea of

"nondirectiveness" (President's Commission for the Study of

Ethical Problems in Medicine and Biomedical and Behavioral

Research, 1983). In legal terms, the genetic counselor must








52

provide all information to a client that would constitute an

"informed decision" (Duster, 1990; Rapp, 1988).

Large amount of genetic information will be generated

from the HGI. Genetic counelors are qualified to evaluate how

genetic information can be used and abused by government,

insurance companies, employers, and other special interest

groups (Resta, 1992). They also determine what sort of

information and how much information a couple needs and can

use, as well as the form in which they can best use it

(Kelley, 1986; Rapp, 1988). Consequently, "the genetic

counselor really is the gatekeeper between science and social

experience, regulating both the quantity and quality of the

information on which decisions will be made" (Rapp, 1988, p.

154).

The role of genetic counselor as sympathetic supporter,

moral advisor, or psychotherapist is usually controversial

(President's Commission for the Study of Ethical Problems in

Medicine and Biomedical and Behavioral Research, 1983).

According to Webster's Ninth New Collegiate Dictionary (1983)

counsel means "advice given" or "a policy or plan of action or

behavior." It is, therefore, not uncommon for some clients

to think that genetic counselors will aid them in their

decision making. The majority of genetic counselors, however,

feel strongly that giving advice to clients about reproductive

decisions or other decisions related to genetic disorders as

an inappropriate professional role (Sorenson et al. 1981).








53

Kelley (1986) recommends that at the outset of the session,

genetic counselors state the purpose of the session and

outline the areas to be covered.

Some researchers argue that sympathetic communication

between counselor and counselee is central to good counseling.

Genetic counseling, like other health counseling, "does not

occur in a hermetically sealed vacuum, where technical

knowledge is the major source of good communication, advice,

and counsel" (Duster, 1990, p. 82). Genetic disorders vary

with racial and ethnic groups and are unevenly distributed

through the class structure. Therefore, the social and

political context in which the counseling takes place and the

amount of information given to the counselee may be as equally

important to the counselee as the technical sophistication of

the counselor (Duster, 1990; Kessler, 1992a).


Effectiveness Of Genetic Counseling


Genetic counseling has been shown to be effective in

educating counselees about diagnostic issues, recurrence risks

or both (Kessler, 1992a; Seidenfeld and Antley, 1981; Sorenson

et al., 1981; Rowley et al., 1984). The criteria most

consistently used by genetic counselors to evaluate their work

are, most importantly, the level of client medical-genetic

knowledge post-counseling and, secondly, client reproductive

intentions and/or behavior post-counseling (Sorenson, et al.,

1981).








54

Czeizel et al. (1981) studied the impact of genetic

counseling on the family planning decisions of 2,082 families.

Two years post-counseling, only 24.7% were able to state

correctly the exact figures or specific risks. However, 74.5%

knew the order of magnitude of risk; and 91% understood the

final advice of the genetic counselor. Of the 88 women who

were told that future pregnancies required consideration, 31

had live births; six of these infants had inherited congenital

anomalies. Of the 60 women who were told that future

pregnancies were not recommended, 23 had live births; 10 of

these infants had inherited congenital anomalies. The

researchers concluded that the significantly high rate of

women of moderate and high risk who chose to follow the

counselor's advice to not have more children prove some

advantage of the directive approach to counseling in that

community.

Sorenson et al. (1981) surveyed 1,097 women who received

genetic counseling in 47 clinics located in 25 states and the

District of Columbia. Clients were surveyed before

counseling, immediately after counseling, and six months post-

counseling. A client's diagnostic knowledge was evaluated by

asking the individual to name and/or describe the medical

problem or disorder for which she had sought genetic

counseling. Fifty-eight percent of the female client came to

the session with accurate diagnostic knowledge, 18% were

marginally accurate; and 20% were inaccurate. There was a 10%








55

increase in accurate knowledge in the counseled population but

12% remained inaccurate, event though the diagnosis was given

in the counseling session. Of the 806 women who responded six

months post-counseling, 70% accurately reported the diagnosis,

15% marginally did so, and 10% remained inaccurate.

In evaluating client's knowledge of risk, six percent

reported accurate knowledge before counseling and 38% were

inaccurate. Immediately after the session 22% reported

accurate knowledge, but 21% were still inaccurate. Six months

post-counseling, 19% reported accurate knowledge, and 26.8%

were inaccurate. In 57% of all cases in the study, it was not

possible to assess the accuracy of a client's risk knowledge,

even if they reported a figure. This was due to the counselor

needing more information, the counselor not reporting to the

researchers the risk reported to the clients, and in almost

15% of all cases, the counselor reporting a non-numeric (high,

medium, low) risk to the clients.

One of the most important observations made in the study

by Sorenson et al. (1981) was that established, experienced

counselors had virtually the same proportion of clients

leaving counseling ignorant as to their risk and diagnosis, as

did younger, inexperienced counselors. The researchers

attributed this to the counselor's lack of opportunity, other

than a single encounter with the clients, to assess how

effective they have been as educators. Davis (1984)

recommends using videotapes to provide opportunities to








56

evaluate and improve interview techniques, as well as to

examine different strategies in presenting emotionally laden

materials.

Somer et al. (1988) surveyed 791 families who received

genetic counseling at public health departments in Finland

between 1972 and 1981. Seventy-five percent of those who were

counseled during the earliest years (1972-1974) knew the mode

of inheritance compared with 83% of the rest of the study

population (1975-1988). Of the 101 families who had

counseling during a pregnancy, 85% recalled the mode of

inheritance and 79% the recurrence risk, compared with 81% and

76%, respectively, in the non-pregnant group. Sixty-two

percent of the respondents stated that counseling had a great

or moderate impact on their reproductive plans, and within

this group, 62% of families had post-counseling pregnancies.

Thirty-three percent of the respondents reported that

counseling had little or no impact on their family planning;

41% of this group had post-counseling pregnancies.

Zare et al. (1988) found the gender of the counselor a

factor in the effectiveness of genetic counseling. Male

counselors spent more time than female counselors discussing

topics other than the core counseling issues. The researchers

stated that lack of discussion of significant issues increases

the likelihood that patient reproductive decisions will be

based on less information than is available. Female

counselors, on the other hand, were reported as being more








57

sensitive to the specific medical and genetic concerns and

questions of their patients. The researchers concluded that

the process of medical education, as well as subsequent

training, contribute to the acquisition of attitudes that may

condition male providers to be more reserved and less involved

with women patients than female providers.















CHAPTER 3
RESEARCH DESIGN AND METHODOLOGY


This study was part of a project conducted under the

aegis of the Morehouse School of Medicine in Atlanta, Georgia

and the University of Florida College of Medicine in

Gainesville, Florida. The project, "The Impact of Human

Genome Initiative Derived Technologies on Genetic Testing,

Screening and Counseling: Social, Ethical and Legal Issues"

was funded by the Department of Energy (DOE) and the National

Institutes of Health (NIH). The objectives of the project

were to:

1. Analyze and compare/contrast the statutory schemes and

services provided by the newborn genetic screening

programs in Florida and Georgia with a particular focus

on:

a. comparing urban/rural population access to the

system

b. profiling personnel responsible for genetic

counseling

c. describing the extent and nature of genetic

counseling provided by state agencies

d. comparing minority population access and use of

the system








59

e. describing provisions made for service to indigent

persons

f. describing systems follow-up of those who may

reside in the state beyond childhood

2. Identify and analyze legal and ethical issues involving

confidentiality of genetic information in comparison to

rights, duties and privileges established by statutory

and case law and embraced in ethical codes of

professional conduct.

3. Categorize situations likely to create conflicts between

index persons and third parties claiming right to know

sensitive genetic information.

4. Categorize and characterize observed rural/urban and

ethnic inequalities.

Data for this project were obtained through in-depth

interviews with key resource persons at the state and local

levels, in-depth interview with genetic counselors at regional

genetic centers, site visits to regional genetic centers, and

legal research of statutory and case law.

As part of the project, the current study sought to

answer the following questions:

1. What are the qualifications and training of professionals

in the Southeastern United States who provide genetic

counseling?








60

2. What are the current roles (i.e. functions, duties, and

contributions) of nurses, genetic associates, and

physicians in the genetic counseling process.

3. What are the perceptions of nurses, genetic associates,

and physicians regarding what their roles (i.e.

functions, duties, and contributions) should be in the

genetic counseling process?

4. What are the educational methods used by these health

professionals in genetic counseling?

The study consisted of a mail survey of persons who do

genetic counseling in the Southeastern United States (Alabama,

Florida, Georgia, Kentucky, Louisiana, Mississippi, North

Carolina, South Carolina, and Tennessee).


Survey Research


This phase of the research consisted of questionnaire

development, self-administration of the mail survey,

quantitative analysis of the data, survey of programs that

prepare genetic counselors, and descriptive analyses of these

programs. Permission to conduct this study was obtained from

the University of Florida's Human Subjects Committee (Appendix

1).


Subjects


Subjects were health care providers who provide genetic

counseling in the Southeastern United States (Alabama,








61

Florida, Georgia, Kentucky, Louisiana, Mississippi, North

Carolina, South Carolina, and Tennessee) who were members of

the Southeast Regional Genetics Group (SERGG), the National

Society of Genetic Counselors, and the American Society of

Human Genetics. The genetic facilities and centers listed in

the SERGG directory were contacted prior to the mailing to

verify and update the employment status of persons listed in

the directory. Subjects included nurses, master's trained

genetic counselors, and physicians. Data from social workers

were used for descriptive purposes since social workers

represent a small proportion of genetic counselors and there

were insufficient numbers for any meaningful statistical

analysis.


Instrument


A self-administered questionnaire was developed based on

data from the review of the literature, previous instruments

used in other genetic counseling studies, data from the larger

project, in-depth interviews of practicing genetic counselors,

and curricula information from genetics training programs.

The Total Design Method of mail surveys outlined by Dillman

(1978) was used to develop and implement the mail survey.

The instrument was reviewed for content validity by a

panel of experts. The panel included faculty members from six

institutions that train genetic counselors and two master's

trained genetic counselors at a university teaching hospital.










Five nurses, five master's trained genetic counselors,

and five physicians were sent a pilot copy of the instrument.

Nine returned the questionnaires within the requested time

frame. Minor revisions were made after the instrument was

pilot tested. Subjects used in the pilot test were not used

in the final study.


Procedures


A questionnaires and a self-addressed stamped envelope

were mailed to subjects along with a letter describing the

study and instructions for returning the questionnaire. A

return graph was used to monitor the response rate. A second

follow-up was mailed to non-respondents three weeks after the

original mailing. It consisted of a questionnaire, a cover

letter, and another self-addressed stamped envelope. A third

mailing was not sent since a target sample of 200 was

achieved.


Data Analysis


Data gathered through the mail survey were analyzed using

the Statistical Analysis System (SAS) on a mainframe computer.

Descriptive statistics were employed. Analysis of Variance

(ANOVA) were used to test differences between groups.

Appropriate post-hoc tests were conducted as needed. For

pairwise comparisons, the familywise error rate was









63

controlled, and the Studentized Maximum Modulus was used.

Statistical significance was assessed at .05. Chi square was

used to determine differences among frequencies and

proportions in different categories.















CHAPTER 4
RESULTS


Descriptive Findings


Response Rate

Questionnaires were sent to 325 identified health

professionals who provided genetic counseling in the

Southeastern United States. Two hundred twenty (63%) were

returned. Of the 220 returned, 204 volunteered for the study;

6 were retired and refused to participate; 4 refused because

they did not counsel clients and ruled themselves ineligible

for the study; and 6 returned the unanswered survey without

any explanations. The response rate was calculated by the

following formula, which excluded

unmade contacts from consideration (Dillman, 1978).

Response rate = number returned x 100
(sample size (noneligible + nonreachable)

Response rate = 220 x 100
(325 (6 + 4 + 6))

Response rate = 71.2%


Demographics

Ninety-one percent of the respondents (n = 170) described

themselves as White, five percent (n = 9) as Black, three








65

percent (n = 5) as Hispanic, two percent (n = 3) as Asian, and

one percent (n = 1) as other. Seventy percent were females

(n = 132) and 30% (n = 57) were males. See Table 4-1.



Table 4-1 Respondents by race and gender (n = 189).


Female Male
Race n %n %

White 119 90 52 91

Black 8 6 1 2

Hispanic 3 2 2 4

Asian 1 1 2 4

Other 1 1 0 0


Note: percentage may not add up to 100 due to rounding.


Education

Thirty percent (n = 57) were physicians; 32% (n = 60)

were certified genetics associates; 23% (n = 43) were nurses;

3% (n = 7) were social workers. Non-physicians with PhDs had

doctoral degrees in such fields as molecular biology,

genetics, education, and psychology (Table 4-2).


Genetic Counseling Team

Genetic counseling is usually done by physicians and

genetic associates (26%); and by physicians, nurses, and

genetic associates (16%). Table 4-4 shows the various members

of the genetic counseling teams and Table 4-5 shows the

current job titles/positions.











Table 4-2 Educational status (n = 198).


Professional

Physicians

Physicians (MD,PhD)

Physicians (MD,MS)

Nurses (MSN)

Nurses (BSN)

Genetic associates (MS)

Genetic associates(MS,PhD)

Social Workers (MSW/MSSW)

Other PhD

Other master's

Other bachelor's

Associate degree


no.

47

9

1

8

35

55

5

7

18

7


Note: percentages may not add up to 100 due to rounding



Table 4-3 Length of time doing genetic counseling.


Professional Overall Present Facility

Physicians 13 9.7 9 9.4

Nurses 6 4.4 6 4.4

Genetic assoc.(PhD) 13 8.4 9 5.4

Genetic assoc. (MS) 6 4.5 4 2.3

Social workers 10 3.9 9 3.7

Other PhD 12 8.0 12 7.4











Table 4-4 Members of the genetic counseling team (n = 201).



Team member no. %



MD 7 4
RN 11 6
GC 11 6
SW 1 1
Other 7 4
MD and RN 15 8
MD and GC 52 26
MD, RN, GC 32 16
MD, RN, GC, SW 1 1
RN and GC 6 3
GC and Intern 2 1
MD, RN, GC, Intern 5 3
MD, RN, Other 2 1
MD, NP, GC, Other 1 1
MD and NP 7 4
GC, SW, Intern 1 1
MD and Other 1 1
MD and SW 3 2
MD, GC, Intern 9 5
MD, NP, GC 7 4
MD, GC, Other 7 4
RN, GC, SW 1 1
MD, GC, SW 4 2
MD and SW 2 1
MD, NP, RN, GC, Intern 2 1
MD, NP, RN, GC 3 2
MD, RN, SW 1 1




Note: percentages may not add up to 100% due to rounding.
MD = physician; RN = registered nurse; GC = genetic
associate; SW = social worker; NP = nurse practitioner;
Intern = graduate student in genetic counseling; Other = lab
director or other health professional.










Table 4-5 Current job title/position (n = 199).


Job title/position no. %



Genetic counselor 50 25
Clinical/medical geneticist 33 17
Clinical nurse specialist 17 9
Social worker/family therapist 4 2
Administrator/clinic coordinator 18 9
Clinical instructor/faculty 8 4
Other 18 9
Genetic counselor and administrator 5 3
Genetic counselor, admin., faculty 6 3
Clinical/medical geneticist and admin. 2 1
Clinical/medical geneticist, faculty 15 8
Clinical/medical geneticist, admin., faculty 3 2
Clinical nurse specialist and administrator 2 1
Genetic counselor and faculty 15 8
Social worker/family therapist and faculty 1 1




Prevalence of Genetic Disorders Among Respondents

The majority of respondents (55%, n = 102) reported

neither they, their family members, nor their close friends

had a genetic disorder (Table 4-6).

The majority of respondents (62%, n = 111) were not

involved with any genetic support group. Eighty-three percent

of those involved with support groups (n = 57) did not think

only genetic associates should do genetic counseling. The

majority (62%, n = 23) of those who had personal encounters

with a genetic disorder (themselves, friend, and/or family

member) did not believe only genetic associates should do


genetic counseling.








69

Table 4-6 Prevalence of genetic disorders among respondents
(n = 187).


Person no. %



Neither I, family, nor friend 102 55
Self 4 2
Family member 32 17
Friend 26 14
Self and family member 2 1
Self and friend 5 3
Self, family, friend 7 4
Family member and friend 9 5



Facility

The majority of the respondents (61%, n = 123) worked at

university medical centers. Nurses with bachelor's degrees

were more likely to work at public health departments (Table

4-7). Seventy-two percent of the facilities were located in

urban areas; 16% in rural areas; and 12% in suburban areas.

Forty-eight percent (n = 95) of the facilities had 3

certified genetic counselors; 24% percent of the facilities

(n = 48) had only 1; 12% (n = 23) had 2; 8% (n = 15) had 4; 4%

(n = 7) had 5; 4% (n = 8) had 6; and 2% (n = 4) had 7.



Patient Population

Forty-five percent of respondents (n = 91) described

their patient population as a mixture of pediatric and

prenatal clients; 20 % (n = 42) as prenatal; 18% (n = 37) as

general public; 12% (n = 25) as pediatric; and 4% (n = 7) as

other (Table 4-8).












Table 4-7 Facilities where the respondents work (n = 202).


Facility MD GC RN SW
no. % no. % no. % no. %



University medical
center 44 79 41 76 13 33 5 83

Public hospital 1 2 3 6 1 3 0 0

Public health
department 0 0 1 2 22 56 0 0

Private/group
practice 4 7 2 4 2 5 0 0

Commercial
genetics lab 3 5 4 7 2 5 0 0

Other 5 9 3 6 0 0 0 0


Note percentage may not add up to 100 due to rounding.
MD = all physicians; GC = all genetic assocaites; RN = all
social workers.


Table 4-8 Patient population (n = 167).


nurses; SW =


Population MD GC RN SW
no. % no. % no. % no. %



Pediatric 14 25 4 7 14 23 1 15

Prenatal 8 14 22 37 1 2 0 0

Pediatric and
prenatal 25 45 27 49 22 51 4 57

General pop. 7 13 4 7 4 2 2 29

Other 3 5 1 2 4 9 0 0


Note percentage may not add up to 100 due to rounding.
MD = all physicians; GC = all genetic assocaites; RN = all nurses; SW =
social workers.










Professional Preparation: Human Genetics

When asked to describe their training in human genetics,

53% (n = 107) respondents reported they had college course

work in human genetics, supervised clinical training, and

seminar/workshop training. Thirteen percent (n = 26) only had

seminar/workshop training; 7% (n = 14) had supervised clinical

training and had seminar/workshop training; 6%

(n = 12) had other training, but did not specific; 5% (n = 10)

only had supervised clinical training; 5% ( n = 11) had

college course work in human genetics, supervised clinical

training, seminar/workshop training, and clinical fellowships;

3% (n = 5) had college course work in human genetics and

supervised clinical' training; 2% (n = 3) had no training

whatsoever (Table 4-9).



Table 4-9 Training in human genetics (n = 158).


Training MD GC RN SW
no. % no. % no. % no. %


Course work, clinical
training and seminar/
workshop 25 45 55 93 13 36 3 43

Course work, clinical
training,seminar/
workshop, fellowship 6 11 0 0 0 0 0 0

Course work and
clinical training 2 4 1 2 0 0 0 0

Course work and
seminar/workshop 0 0 2 3 0 0 1 14










Table 4-9--continued


Training MD GC RN SW
no. % no. % no. % no. %


Clinical training &
seminar/workshop 4 7 1 2 4 11 1 14

Course work 1 2 0 0 0 0 0 0

Clinical training 5 9 0 0 2 6 0 0

Seminar/workshop 3 5 1 2 15 42 2 29

Other training 9 16 0 0 0 0 0 0

No training whatsoever 0 0 0 0 2 6 0 0



Note percentage may not add up to 100 due to rounding.
MD = all physicians; GC = all genetic assocaites; RN = all
nurses; SW = social workers.


The majority of other health professionals with PhDs

(56%, n = 9) had college course work in human genetics,

supervised clinical training, and seminar/workshop training.


Professional Preparation: Counseling Techniques

Thirty percent of respondents (n = 59) had college course

work in counseling techniques, supervised clinical training,

and seminar/workshop training. Twenty percent (n = 38) had

supervised clinical training and seminar/workshop training;

15% (n = 29) had only supervised clinical training; 11% (n =

21) had only seminar/workshop training; 8% (n = 15) had

college course work and supervised clinical training; 6% (n =

12) had no training whatsoever; 5% (n = 9) had only college












course work; 2% (n = 3) had college course work in counseling

techniques, supervised clinical training, and seminar/workshop

training, and clinical fellowships.



Table 4-10 Training in counseling techniques (n = 147).


Training MD GC RN SW
no. % no. % no. % no. %


Course work, clinical
training and seminar/
workshop 9 16 37 55 7 21 7 100

Course work, clinical
training,seminar/
workshop, fellowship 0 0 0 0 0 0 0 0

Course work and
clinical training 2 4 0 0 1 3 0 0

Course work and
seminar/workshop 0 0 13 22 4 12 0 0

Clinical training &
seminar/workshop 14 25 6 10 1 3 0 0

Course work 3 5 4 7 1 3 0 0

Clinical training 15 27 3 5 5 15 0 0

Seminar/workshop 7 13 0 0 9 27 0 0

Other training 0 0 0 0 0 0 0 0

No training whatsoever 7 13 0 0 5 15 0 0


Note percentage may not add up to 100 due to rounding.


MD = all physicians; GC = all genetic assocaites; RN =
social workers.


all nurses; SW =


Nineteen percent of other health professionals with PhDs

(n = 3) had college course work in counseling techniques,

supervised clinical training, and seminar/workshop training;

25% (n = 3) had only supervised clinical training; 25% (n = 3)











had supervised clinical training and seminar/workshop

training.


Professional Preparation: Educational Methods And Principles

Twenty-seven percent of all respondents (n = 51) said

they had no training in educational methods and principles

whatsoever. Twenty-three percent said they had only

seminar/workshop training; 15% (n = 29) said they had course

work in educational methods and principles, supervised

clinical training, and seminar/workshop training; 11% (n = 21)

had supervised clinical training and seminar/workshop

training; 9% (n = 18) had only college course work in

educational methods and principles; 4% (n = 8 had college

course work and seminar/workshop training; 4% (n = 7) had only

supervised clinical training; 3% (n = 6) had course work in

educational methods and principles and supervised clinical

training; 1% (n =1) had course work in educational methods and

principles, supervised clinical training, seminar/workshop

training, and clinical fellowship.



Table 4-11 Training in educational methods and principles
(n = 155)


Training MD GC RN SW
no. % no. % no. % no. %
Course work, clinical
training and seminar/
workshop 6 11 11 19 9 24 0 0
Course work, clinical
training,seminar/
workshop, fellowship 0 0 0 0 0 0 0 0











Table 4-11--continued


Training MD GC RN SW
no. % no. % no. % no. %


Course work and
clinical training 0 0 3 5 0 0 0 0

Course work and
seminar/workshop 0 0 3 5 4 12 1 14

Clinical training &
seminar/workshop 6 11 6 10 1 3 3 43

Course work 2 4 7 12 4 11 1 14

Clinical training 3 9 1 2 0 0 0 0

Seminar/workshop 11 19 9 16 12 32 0 0

Other training 2 4 1 2 2 5 0 0

No training whatsoever 24 42 17 29 5 13 1 14


Note percentage may not add up to 100 due to rounding.
MD = all physicians; GC = all genetic assocaites; RN =
social workers.


all nurses; SW =


Forty-four percent of other health professionals with

PhDs (n = 8) had no training whatsoever in educational methods

and principles; 22% (n = 4) had only seminar/workshop

training; 17% (n = 3) had only supervised clinical training;

11% (n = 2) had college course work in educational methods and

principles, supervised clinical training, and attended

seminars/workshops.


Inferential Statistics

Only responses for physicians, genetic counselors, and

nurses are analyzed. Contingency tables and X2 tests were used

for bivariate analyses. Because of the small numbers of








76

social workers in the study, many responses related to social

workers had cells with expected counts less than five; X2

values may not be valid and these values are not reported.

However, the percentages are given for information purposes.

Analysis of variance (ANOVA) was used to analyze differences

between groups. Welch's t was used to analyze differences

between two groups assumed to have unequal variances.

Dunnet's T3 was used to make pairwise comparisons between

groups assumed to have unequal variances. For pairwise

comparisons, the familywise error rate was controlled, and the

Studentized Maximum Modulus was used to determine critical

values.


Work Week

Contingency tables and X2 tests were used for bivariate

analyses.

The number of hours spent on genetic counseling depended

on the health professional [(X2 (2), n = 150) = 32.069, P =

0.000] (Table 4-12). Thirty-six percent of physicians spent

5 to 10 hours/week; 28% spent less than 5 hours/week; and 23%

spent 11-15 hours/week. Thirty-three percent of genetic

counselors spent 11 to 15 hours/week and 28% spent more than

20 hours/week. Forty percent of nurses spent less than 5

hours/week.

The number of hours spent on clerical/administrative

tasks depended on the health professional [(X2 (2), n = 150)








77

= 26.39, P = 0.001] (Table 4-14). Forty-five percent of

physicians spent 5 to 10 hours/week. Thirty-one percent of

genetic counselors spent 11-15 hours/week and 28% spent 5 to

10 hours/week. Thirty-two percent of nurses spent less than

5 hours/week and 24% spent more than 20 hours/week.

The length of the average genetic counseling session

depended on the health professional [(X2 (2), n = 150) =

11.95, P = 0.018] (Table 4-16). The majority of physicians

(69%), genetic counselors (79), and nurses (53%) spent 30 to

60 minutes.

The majority of physicians (63%) saw one to nine

patients/week for genetic counseling; 38% saw ten to 20

patients/week. The majority of genetic counselors (54%) saw

ten to 20 patients/week; 40% saw one to nine patients/week.

The majority of nurses (51%) saw one to nine patients/week;

30% saw 10 to 20 patients/week and 19% saw none (Table 4-18).

The majority of physicians, genetic associates, and

nurses spent less than 5 hours/week on genetic-related

educational activities (Table 4-21).











Table 4-12. Hours spent on genetic counseling: X2 analysis.



Hours/week no.


Less than 5
Physicians 15 27
Genetic associates 4 7
Nurses 15 41

5 to 10
Physicians 20 36
Genetic associates 9 16
Nurses 8 22

11 to 15
Physicians 13 23
Genetic associates 19 33
Nurses 5 14

16 to 20
Physicians 4 7
Genetic associates 9 16
Nurses 6 16

More than 20
Physicians 4 7
Genetic associates 16 28
Nurses 3 8

X2 ((2) n = 160) = 32.069, P = 0.000











Table 4-13. Hours spent doing genetic counseling (n = 183).



MD MD&PhD GC PhD&GC

Hours/week no. % no. % no. % no. %
Less than 5 13 28 2 22 1 2 3 60

5 to 10 17 37 3 33 9 17 0 0

11 to 15 11 24 2 22 18 35 1 20

16 to 20 3 7 1 1 9 17 0 0

More than 20 2 4 1 1 15 29 1 20






Table 4-13--continued


PhD MSN BSN MSSW

Hours/week no % no % no % no %

Less than 5 10 71 0 0 15 50 1 20

5 to 10 4 29 5 71 3 10 1 20

11 to 15 0 0 1 14 4 13 2 40

16 to 20 0 0 1 14 5 17 1 20

More than 20 0 0 0 0 3 10 0 0



Note: percentages may not add up to 100 due to rounding
PhD = health professionals with other doctoral degree;
MSN = master's in nursing; BSN = bachelor's in nursing; and
MSSW = master's in social work.











Table 4-14. Hours spent on clerical/administrative tasks: X2
analysis.



Hours/week no. %

Less than 5
Physicians 5 9
Genetic associates 3 5
Nurses 12 32

5 to 10
Physicians 25 45
Genetic associates 16 28
Nurses 7 18

11 to 15
Physicians 10 18
Genetic associates 18 31
Nurses 3 8

16 to 20
Physicians 7 10
Genetic associates 10 17
Nurses 7 18

More than 20
Physicians 9 16
Genetic associates 11 19
Nurses 9 24

X2 (2) n = 152 = 23.39, P = 0.001



Table 4-15. Hours spent on clerical/administrative duties
(n = 188).




MD MD,PhD GC PhD,GC

Hours/week no % no % no % no %

Less than 5 4 9 1 11 2 4 1 20
5 to 10 22 48 2 22 14 26 2 40
11 to 15 9 20 1 11 18 34 0 0
16 to 20 4 9 3 33 8 17 2 40
More than 20 7 15 1 6 11 21 0 0


Note: percentages may not add up to 100 due to rounding
MD = physician; MD, PhD = physicians with doctoral degree;
GC = master's trained genetic counselors/associates;
PhD,GC = genetic associates with doctoral degrees.











Table 4-15--continued


PhD MSN BSN MSSW

Hours/week no % no % no % no %

Less than 5 4 25 2 29 10 32 2 23

5 to 10 6 38 3 43 4 13 1 17

11 to 15 2 13 0 0 3 10 1 17

16 to 20 3 19 0 0 7 23 2 33

More than 20 1 6 2 29 7 23 0 0



Note: percentages may not add up to 100 due to rounding
PhD = health professionals with other doctoral degree;
MSN = master's in nursing; BSN = bachelor's in nursing; and
MSSW = master's in social work.











Table 4-16. Average length of genetic counseling session in
minutes: X2 analysis.


MD GC RN

Minutes no. % no. % no. %

Less than 30 7 13 3 6 11 29
30 to 60 38 69 46 79 20 53
More than 60 10 18 9 16 7 18

X2 (2), n = 151 = 11.95, P = 0.018



Table 4-17. Average length of genetic counseling session in
minutes (n = 183).


MD MD,PhD GC PhD,GC
Minutes no % no % no % no %


Less than 30 6 13 1 11 2 4 1 20
30 to 60 29 64 8 89 44 83 2 40
More than 60 10 22 0 0 7 13 2 40


Note: percentages may not add up to 100 due to rounding
MD = physician; MD/PhD = physiciaians with PhD; GC = master's
trained genetic associates;PhD,GC = genetic associates with
doctoral degrees.


Table 4-17--continued


PhD MSN BSN MSSW
Minutes no % no % no % no %


Less than 30 0 0 0 0 11 35 0 0
30 to 60 7 54 4 57 16 52 3 50
More than 60 6 46 3 43 4 13 3 50


Note: percentages may not add up to 100 due to rounding
PhD = health professionals with other doctoral degree;
MSN = master's in nursing; BSN = bachelor's in nursing; and
MSSW = master's in social work.











Table 4-19. Number of
(n = 150).


patients seen by health professional


Number of Patients no. %


Zero

Physicians
Genetic associates
Nurses


1 to 9


Physicians
Genetic associates
Nurses

10 to 20

Physicians
Genetic associates
Nurses

21 to 30

Physicians
Genetic associates
Nurses

More than 30
Physicians
Genetic associates
Nurses











Table 4-20. Number of patients per week seen by health
professionals (n = 186).



MD MD,PhD GC PhD,GC

Patients no % no % no % no %

Zero 0 0 0 0 1 2 0 0

1 to 9 31 67 4 44 14 26 3 60

10 to 20 15 33 5 56 18 34 2 40

21 to 30 0 0 0 0 8 17 0 0

More than 30 0 0 0 0 11 21 0 0



Note: percentages may not add up to 100 due to rounding
MD = physician; MD, PhD = physicians with doctoral degree;
GC = master's trained genetic counselors/associates;
PhD,GC = genetic associates with doctoral degrees.

Table 4-20--continued



PhD MSN BSN MSSW

Patients no % no % no % no %

Less than 5 5 31 0 0 7 23 1 14

5 to 10 11 69 6 86 13 43 4 57

11 to 15 0 0 1 14 10 33 2 29

16 to 20 0 0 0 0 0 0 0 0

More than 20 0 0 0 0 0 0 0 0



Note: percentages may not add up to 100 due to rounding
PhD = health professionals with other doctoral degree;
MSN = master's in nursing; BSN = bachelor's in nursing; and
MSSW = master's in social work.










Table 4-21. Hours per week
educational activates (n = 189).


spent on genetic-related


MD MD,PhD GC PhD,GC

Hours/week no % no % no % no %

Zero 13 28 2 22 14 26 2 40

Less than 5 29 63 5 56 34 64 2 40

5 to 10 41 9 1 11 4 8 0 0

More than 10 0 0 1 11 1 2 1 20



Note: percentages may not add up to 100 due to rounding
MD = physician; MD, PhD = physicians with doctoral degree;
GC = master's trained genetic counselors/associates;
PhD,GC = genetic associates with doctoral degrees.



Table 4-21--continued



PhD MSN BSN MSSW

Hours/week no % no % no % no %

Zero 2 13 0 0 11 34 2 29

Less than 5 7 44 6 86 20 63 5 71

5 to 10 5 31 1 14 1 3 0 0

More than 10 2 13 0 0 0 0 0 0



Note: percentages may not add up to 100 due to rounding
PhD = health professionals with other doctoral degree;
MSN = master's in nursing; BSN = bachelor's in nursing; and
MSSW = master's in social work.










Counseling Goals

Respondents were asked to rate the importance of six

counseling goals on a four-point Likert scale. On the scale,

very important = 4, important = 3, somewhat important = 2, and

not important = 1. Analysis of variance was used to analyze

differences between groups (Table 4-28), and Dunnet's T3 was

used for post-hoc comparisons (Table 4-29).

Fifty-eight percent (n = 111) of all respondents thought

it was very important or important that their counseling

prevent disease or abnormality. There was a significant

difference in response among physicians, genetic counselors,

and nurses with respect to this variable [F (2,151) = 18.31,

P = 0.0001]. Physicians and nurses were more likely than

genetic counselors to indicate that it was important that

their counseling prevent disease or abnormality. There was

no significant difference between physicians and nurses.

The majority (58%, n = 107) did not think it was

important that their counseling reduce the number of carriers

of genetic disorders in the population. There was a

significant difference in response among physicians, genetic

counselors, and nurses with respect to this variable

[F (2,149) = 27.26, P = 0.0001]. Physicians were as likely as

genetic counselors to indicate that it was not important that

their counseling reduce the number of carriers. Physicians and

genetic counselors were more likely than nurses to indicate








87
that it was not important that their counseling reduce the

number of carriers.

Sixty-three percent (n = 121) thought it was important

or very important that their counseling improve the general

health of the population. There was a significant difference

in response among physicians, genetic counselors, and

nurses with respect to this variable; [F (2,151) = 18.12,

P = 0.0001]. Nurses were more likely than physicians, and

physicians were more likely than genetic counselors, to say it

was important that their counseling improve the general health

of the population.

Ninety-two percent (n = 179) thought it was important or

very important that their counseling should help families

adjust to and cope with their genetic disorders. There was no

significant difference in response among physicians, genetic

counselors, and nurses with respect to this variable

[F (2,151) = 1.58, P = 0.2102].

Ninety-nine percent (n = 191) thought that it was

important or very important that their counseling remove or

lessen the patient's guilt or anxiety. There was no

significant difference in response among physicians, genetic

counselors, and nurses with respect to this variable

[F (2,151) = 0.76, P = 0.4673].

Ninety percent (n = 174) thought it was important or very

important that their counseling help couples achieve their

parenting goals. There was a significant difference in









88
response among physicians, genetic counselors, and nurses with

respect to this variable [F (2,151) = 4.44, P = 0.0133].

Physicians were more likely than genetic counselors to say it

was important that their counseling help individual couples

achieve their parenting goals. There was no significant

difference in response between physicians and nurses and

genetic counselors and nurses.



Table 4-22. Prevent disease or abnormality (n = 177).


Professional VI I SI NI
no. % no. % no. % no. %


Physicians 17 31 18 33 15 27 6 11
Genetic associates 7 12 12 20 28 47 14 23
Nurses 22 56 9 23 5 13 3 8
Social workers 3 50 2 33 0 0 1 17
Other PhD 6 40 3 29 3 20 3 20



Note: percentages may not add up to 100 due to rounding;
Physicians = all physicians; Nurses = all nurses; Genetic
associates include PhDs
VI = very important; I = important; SI = somewhat important;
NI = not important;










Table 4-23. Reduce the number of carriers (n = 173).



Professional VI I SI NI

no. % no. % no. % no. %


Physicians 5 9 7 13 6 11 38 68
Genetic associates 0 0 5 9 11 19 42 72
Nurses 14 37 9 24 7 18 8 21
Social workers 3 50 1 17 0 0 2 33
Other PhD 0 0 3 20 2 13 10 67



Note: percentages may not add up to 100 due to rounding;
Physicians = include physicians with PhD and MS degrees;
Genetic associates = include those with PhD;
Nurses = include those with MS
VI = very important; I = important; SI = somewhat important;
NI = not important;



Table 4-24. Improve the health of the population (n = 173).



Professional VI I SI NI

no. % no. % no. % no. %


Physicians 24 44 13 24 10 18 8 15
Genetic associates 11 19 10 17 29 50 8 14
Nurses 26 67 10 26 3 8 0 0
Social workers 2 33 3 50 1 17 0 0
Other PhD 7 47 3 20 2 13 3 20



Note: percentages may not add up to 100 due to rounding;
Physicians = include physicians with PhD and MS degrees;
Genetic associates = include those with PhD;
Nurses = include those with MS
VI = very important; I = important; SI = somewhat important;
NI = not important;











Table 4-25. Help families adjust to and cope with their
genetic disorder (n = 175).



Professional VI I SI NI

no. % no. % no. % no. %


Physicians 52 93 4 7 0 0 0 0
Genetic associates 57 97 2 3 0 0 0 0
Nurses 34 87 5 13 0 0 0 0
Social workers 6 100 0 0 0 0 0 0
Other PhD 14 97 1 7 0 0 0 0



Note: percentages may not add up to 100 due to rounding;
Physicians = include physicians with PhD and MS degrees;
Genetic associates = include those with PhD;
Nurses = include those with MS
VI = very important; I = important; SI = somewhat important;
NI = not important;


Table 4-26. Remove
(n = 175).


or lessen the patient's guilt or anxiety


Professional VI I SI NI

no. % no. % no. % no. %


Physicians 47 84 8 14 1 2 0 0
Genetic associates 51 86 7 12 0 0 1 2
Nurses 36 92 3 8 0 0 0 0
Social workers 5 83 1 17 0 0 0 0
Other PhD 12 80 2 13 1 7 0 0



Note: percentages may not add up to 100 due to rounding;
Physicians = include physicians with PhD and MS degrees;
Genetic associates = include those with PhD;
Nurses = include those with MS
VI = very important; I = important; SI = somewhat important;
NI = not important;




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