American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 142C:276– 283 (2006)

A R T I C L E

Genetic Counselors and Research: Current Practices

and Future Directions
HEATHER M. CLARK,* JENNIFER GAMM, CARL A. HUETHER, C. RALPH BUNCHER,
RUTHANN I. BLOUGH PFAU, AND NANCY STEINBERG WARREN

Members of the genetic counseling community have debated the need for doctoral degree programs to further
advance the profession. However, genetic counselors’ interest in conducting independent research and attitudes
toward obtaining a doctoral degree in genetic counseling has not been assessed in more than a decade. We
designed a comprehensive web-based survey to characterize the current research values and practices of genetic
counselors. Respondents were asked to self-report their current research involvement, their specific role in
research activities, and their interest in performing research in the future. The study showed that a significant
number of genetic counselors (84.5%) have conducted previous research, and 69.4% of respondents plan to
perform research in the future. These results reflect the maturation of the genetic counseling field, in that a
substantial number of genetic counselors consider active involvement in research to be a core role. The study also
showed that 34.1% of respondents have high interest in a hypothetical PhD in Genetic Counseling, suggesting
that the profession is primed for the development of doctoral degree training options. ß 2006 Wiley-Liss, Inc.

KEY WORDS: genetic counseling; research; doctorate education; PhD; graduate training
How to cite this article: Clark HM, Gamm J, Huether CA, Buncher CR, Pfau RIB, Warren NS. 2006.
Genetic counselors and research: Current practices and future directions.
Am J Med Genet Part C Semin Med Genet 142C:276–283.

INTRODUCTION of a profession is the acquisition of sional directions, and achieve greater

discipline-specific knowledge through visibility in the field as candidates for
The practice of genetic counseling has research and its transmission and appli- faculty positions at academic institu-
much to gain from developing a strong cation to clinical practice [Eisenhauer tions [Megel et al., 1988; Gething and
foundation in research, particularly in and Bleich, 2006]. Genetic counselors Leelarthaepin, 2000]. Unfortunately,
the areas of counseling theory, process who design and conduct research are information about genetic counselors’
studies, and counseling outcomes likely to become leaders who advance involvement in research is lacking. Data
[Biesecker, 1998]. An important role the discipline, determine future profes- on the type or amount of research that is
being done by genetic counselors in the
field of genetic counseling is elusive. It
is also difficult to find studies on the
Heather M. Clark, M.S., CGC is a genetic counselor in the Department of Human Genetics at factors that influence genetic counselors’
Emory University School of Medicine. She currently serves as a genetic counselor and clinical involvement in research.
coordinator for the Emory Lysosoal Storage Disease Center.
Jennifer Gamm, SCM, CGC is a Genetic Counselor III within the Division of Human Genetics at
Previous studies from other allied
Cincinnati Children’s Hospital Medical Center. She works with both the Cytogenetics Laboratory health disciplines identified a number
as well as the Hereditary Cancer Program. of factors that influence research
Dr. Carl Huether is a Professor of Biology in the College of Arts and Sciences, and Director of the
Preparing Future Faculty Program, at the University of Cincinnati.
practice and productivity. These include
Dr. C. Ralph Buncher is a Professor of Biostatistics and Epidemiology and Director of Graduate cumulative advantage (graduate training,
Education in the Department of Environmental Health at the University of Cincinnati College of mentoring, academic resources, years
Medicine.
Ruthann Blough Pfau, M.S., Ph.D. is a Clinical Associate Professor of Pediatrics at Wright State
of experience), psychological/individual
University’s Boonschoft School of Medicine. She practices genetic counseling and clinical characteristics (intrinsic motivation, per-
cytogenetics within the Department of Medical Genetics and Birth Defects at Dayton Children’s sonal preferences, age, academic rank,
Medical Center.
Nancy Steinburg Warren, M.S., CGC is an Associate Professor and Director of the Genetic
gender), and reinforcement (institutional
Counseling Graduate Program at the University of Cincinnati and Cincinnati Children’s Hospital emphasis, contacts with colleagues, early
Medical Center. research productivity) [Megel et al.,
Grant sponsor: University of Cincinnati Faculty Research Council Grant.
*Correspondence to: Heather M. Clark, Department of Human Genetics, Emory University
1988; Brocato and Mavis, 2005].
2165 North Decatur Road Decatur, GA 30033. E-mail: hclark@genetics.emory.edu Studies from nursing and physical
DOI 10.1002/ajmg.c.30106 therapy practice identified factors such

ß 2006 Wiley-Liss, Inc.

ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
as the relevance of research to the clinical
practice, the importance of research to
the status of the profession, the ability of
the professional organization to support
research, and the professional’s personal
obligation for conducting and generat-
ing research [Fisher et al., 1989]. Indi-
viduals and their institutions must work
together to create a research culture that
emphasizes innovation, autonomy, peer
support, integration into education and
practice, and publicity of research
accomplishments [Conn et al., 2005].
Primary reasons for noninvolvement in
research have been identified as lack of
time, skills, and interest [Megel et al.,
1988].
In the field of genetic counseling,
additional barriers beyond inexperience
must be considered. The American
Board of Genetic Counseling has only
recently instituted a research require-
ment for accredited graduate programs.
Given that about 50% of genetic coun-
selors have 5 years of experience or less,
experienced research mentors are scarce
[Parrott et al., 2002; Parrott and Manley,
2004]. It is difficult for any practicing
clinicians to initiate and perform inde-
pendent research. Often, clinicians
must define their own research roles
and functions, obtain resources and
funding, and establish support networks
in the absence of mentors—all while
maintaining their well-defined clinical
and administrative roles [Pranulis, 1991].
As the number and complexity of
different demands increase, an individual
can experience ‘‘role strain’’ that leads to
difficulty in meeting multiple obliga-
tions [Oermann, 1998]. Further, acquir-
ing funding is particularly difficult for
the novice researcher as major funding
agencies use an applicant’s previous
funding record and publications as major
criteria for evaluating applications. New
researchers without an existing track
record may find it very difficult to
prioritize and establish their own
research interests [Gething and Lee-
larthaepin, 2000].
Genetic counselors’ interest in con-
ducting independent research and their
attitudes toward obtaining a potential
doctoral degree in genetic counseling
has not been assessed in more than a
decade [Gaupman et al., 1991]. The
purpose of our study was to describe the
research values and practices of genetic
counselors by assessing their current
research involvement, their specific
research activities, and their future
interest in performing research. The
study also examined genetic counselors’
opinions about their professional plans
and their interest in obtaining advanced
degrees, including a PhD in Genetic
Counseling. We proposed that ‘‘recent
graduates’’ (referring to genetic counse-
lors who graduated from a training
program 5 years ago or less) would be
more likely than ‘‘experienced gradu-
ates’’ (who graduated more than 5 years
ago) to have been taught research
methods and to have formally conducted
research during graduate school. In
contrast, experienced graduates of
genetic counseling programs would be
more likely than the recent graduates
to have the career-related experience,
time, and desire to perform research.
MATERIALS AND METHODS
In 2003, we conducted a cross-sectional
study of genetic counselors ascertained
through the membership registry of the
National Society of Genetic Counselors
(NSGC). All 1,623 full members were
eligible for participation. Since a large
majority of practicing genetic counse-
lors belong to the NSGC, this method of
ascertainment was representative of
genetic counselors [Parrott et al.,
2002]. An email cover letter and weblink
to the questionnaire was sent to each
individual. A follow-up invitation to
participate in the study was addressed to
all full members and posted on the
NSGC listserv. By completing and
submitting the survey, subjects indicated
their consent to participate. The study
was approved by the University of
Cincinnati Institutional Review
Board—Social and Behavioral Sciences
section.
We developed a self-report, web-
based questionnaire. Prior to use, the
questionnaire was reviewed by experts in
epidemiology, statistics and genetics, and
piloted by four genetic counselors. This
quantitative analysis focuses on the 42
277
questions assessing socio-demographics,
current job characteristics, amount of
work in various genetic counseling roles,
current and future advanced degree
training plans, research experiences in
graduate school, and current research
activities. A copy of the survey instru-
ment may be obtained from the first
author.
Data analysis was performed using
the SPSS system for Windows, version
11.0. Descriptive statistics, including
frequency distributions, were computed
for most questions. Chi-square analysis
was used to examine interactions
between key variables and determine
the statistical significance of differences
between groups based on experience.
The threshold for statistical significance
was set at the P < 0.05 level.
RESULTS
The characteristics of the study popula-
tion were compared to demographics
from the 2002 NSGC Professional Status
Survey (the most recent one available at
the time of the study) and are shown in
Table I. Differences were not statistically
significant; therefore it is assumed that
the study sample is representative. At the
time of the study, 1,200 emails were
successfully sent and received. A follow-
up invitation to participate in the study
was addressed to all eligible 1,623 full
members and posted on the NSGC
listserv. We received 531 responses, for
a response rate of 32.7%. All frequencies
were individually determined based on
the number of respondents who
answered each specific question.
Job Characteristics
Respondents were asked to identify their
primary genetic counseling role at their
current job, summarized in Table I.
The majority of respondents (87.0%)
reported having regular contact with
patients. Out of 524 respondents,
24.8% indicated that they hold a faculty
appointment.
Graduation Year
The respondents were divided into two
groups based on year of graduation.
278 AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c ARTICLE

design course. Seventy-five percent of

TABLE I. Demographic Comparisons Between Genetic Counselors respondents (n¼348) completed a
Responding to Current Study and the 2002 NSGC Professional Status Survey* required thesis, while 3.4% (n ¼ 16)
completed an optional thesis. Twenty-
Current study (N ¼ 531) 2002 PSS (N ¼ 856) one percent of respondents (n ¼ 97)
Region % (n) % (n) described their thesis research as
Region 1 10 (54) 8 (68) ‘‘hypothesis driven,’’ while 20% of them
Region 2 24 (129) 23 (197) (n ¼ 93) described their thesis research as
Region 3 12 (64) 12 (103) a ‘‘descriptive study.’’ Twenty-six per-
Region 4 24 (125) 26 (223) cent of respondents (n ¼ 120) learned to
Region 5 10 (55) 11 (94) write a grant or research proposal and
Region 6 20 (104) 20 (171) 21.6% of respondents (n ¼ 100) sub-
Gender mitted a manuscript for publication in a
Female 96 (509) 94 (805) peer-reviewed journal. Recent gradu-
Male 4 (20) 6 (51) ates were significantly more likely than
Age experienced graduates to have taken a
<30 38 (203) 31 (265) research design course (P < 0.001), to
30–39 39 (208) 40 (342) have completed a required thesis
40–49 15 (81) 21 (180) (P < 0.001), and to have learned how
50–59 6 (31) 7 (60) to write a grant or research proposal

60 1 (6) 1 (9) (P < 0.001).
Primary rolea (N ¼ 527)
Clinical 67 (353) 86 (609)
Research Involvement
Research/Coordinator 14 (71) 30 (213)
Teaching 4 (22) 56 (394) To quantify the amount of time genetic
Administration 4 (22) 5 (35) counselors are committing to research,
Clinical Coordination 3 (16) 29 (206) respondents were asked to report the
Other 8 (43) 4 (8) amount of work time (based on a 5-
point scale of 25% increments) that they
*Differences were not statistically significant. commit to specific genetic counseling
a
Our study required the respondents to choose one option, while the 2002 Professional roles (Clinical Practice/Coordination;
Status Survey allowed respondents to choose multiple roles (therefore their percentages Research; Teaching/Supervising Stu-
do not add up to 100% and were not tested for statistical significance). dents; Administration; Other). Later,
they were asked to consider their ideal
genetic counseling position and indicate
Subjects who graduated within the past Likert scale from 1 (not at all) to 5 (very how much time they would prefer to
5 years (n ¼ 301) were termed ‘‘recent much so) and are summarized in commit to each role (Fig. 1). There was
graduates’’ and made up 57.9% of the Table II. Recent graduates were signifi- no significant difference in research
total respondents. Subjects who gradu- cantly more likely to have felt their involvement between recent graduates
ated more than 5 years ago (n ¼ 219) graduate program placed an emphasis on and experienced graduates (P ¼ 0.56).
were termed ‘‘experienced graduates’’ research (P < 0.001). Therefore, it is not
and made up 42.1% of the total surprising that they also felt significantly
Research Practices
respondents. more prepared to perform research after
graduation than experienced graduates The majority of respondents (84.5%)
(P < 0.001). The mean response to the have performed research and 69.4% of
Graduate Education
importance of research as a genetic respondents indicated that they plan to
Respondents were asked several ques- counselor’s role was 3, a neutral response, perform research in the future. Specifi-
tions related to their graduate training: and there was no statistically significant cally, 41.1% of respondents classified
how much emphasis their genetic coun- difference among graduation years their research participation as clinical
seling program placed upon preparing (P ¼ 0.63). research (n ¼ 209), 34.3% developed
them to perform research after gradua- Respondents were asked to case studies/reports (n ¼ 175), 33.9%
tion, how well they felt their training describe their various research require- performed medical literature reviews
program prepared them to perform ments during graduate training. In terms (n ¼ 172), 30.5% performed quantita-
research, and if they felt it was a genetic of coursework, 62.7% of respondents tive research/surveys (n ¼ 155), 28.9%
counselor’s role to perform research. (n ¼ 291) completed a statistics course performed qualitative research/inter-
Responses were selected from a 5-point and 31.7% (n ¼ 147) took a research views (n ¼ 147), 27.2% participated in
ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c 279

laboratory-based research (n ¼ 138),

TABLE II. Self-Reported Graduate School Research Experiences 16.7% worked on the natural history of
of Genetic Counselors a genetic condition (n ¼ 85), 13.8%
participated in single gene identification
Recent grads Experienced grads studies (n ¼ 70), 12.2% participated in a
(N ¼ 299) (N ¼ 217) multiple/complex genes identification
Program emphasis on research % (n) % (n) studies (n ¼ 62), 10.8% conducted a
1 (none) 14.7 (44) 41.0 (89) counseling theory/outcome studies
2 31.4 (94) 30.4 (66) (n ¼ 55), while 5.5% chose ‘‘other’’
3 24.2 (73) 13.8 (30) (n ¼ 28). Eight percent of respondents
4 18.7 (56) 10.6 (23) (n ¼ 40) indicated ‘‘none of these
5 (very much) 10.7 (32) 4.1 (9) responses.’’
Chi-square P < 0.001* Reasons why respondents perform
(N ¼ 298) (N ¼ 219) research are summarized in Table III
Preparedness to perform research (N ¼ 478). A number of Likert-scale
1 (not at all) 10.1 (30) 34.2 (75) questions addressed various barriers to
2 24.5 (73) 27.9 (61) performing research, writing grants, and
3 25.5 (76) 17.8 (39) writing scientific papers. These
4 23.8 (71) 13.7 (30) responses are summarized in Table IV
5 (very well) 16.1 (48) 6.4 (14) and indicate that ‘‘lack of time’’ is the
Chi-square P<0.001* greatest research, grant writing, and
(N ¼ 297) (N ¼ 219) manuscript submission reported barrier
Genetic counselor’s role to for genetic counselors.
perform research
1 (not at all) 1.7 (5) 3.2 (7)
2 14.1 (42) 12.8 (28) Additional Advanced Degree
3 47.1 (140) 43.3 (95) Training
4 23.6 (70) 24.2 (53)
Thirteen of five hundred twenty-two
5 (very much so) 13.5 (40) 16.4 (36)
respondents (2.5%) were currently
Chi-square P ¼ 0.63
enrolled in a post-masters advanced
*Statistically significant. degree program. However, 125 of 513
respondents (24.4%) reported that they

70
n=194

Current Job (n=290)

60
Percentage of Respondents

Ideal Job (n=327)

n=135

50

40
n=87

30
n=55

n=59

20
n=26

n=32

n=17

n=10

10
n=2

0
0% 25% 50% 75% 100%

% Effort
Figure 1. Current versus ideal work time commitment to research.
280 AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c ARTICLE

had future plans to enroll in an additional

TABLE III. Identified Reasons Why Genetic Counselors Perform Research advanced degree program. Respondents
were specifically asked if they would be
Response frequency % (n) interested in pursuing a doctoral degree
Reasons why genetic counselors perform research (N ¼ 478) in genetic counseling, ‘‘if such a degree
Interest in the subject 57.7 (276) existed.’’ This option appealed to addi-
Contribute to the field 48.3 (231) tional respondents, with 178 of 522
Personal development/satisfaction 46.0 (220) subjects (34.1%) indicating that, given
Diversify job responsibility 36.6 (175) the option, they would pursue a PhD in
Job requirement 29.7 (142) genetic counseling. Recent graduates
Lack of research on the subject 26.2 (125) were significantly more likely to be
Career advancement 19.7 (94) interested in pursuing a PhD in genetic
Responsibility to a professional organization 9.4 (45) counseling than experienced graduates
Flexibility/work from home 5.0 (24) (P ¼ 0.001). Reasons respondents
Increase salary 3.1 (15) planned to pursue an additional
Create a job in a new area 3.1 (15) advanced degree are summarized in
Other 4.0 (19) Table V. Recent graduates were signifi-
I do not perform research 23.6 (113) cantly more likely to have identified,
‘‘for career advancement,’’ ‘‘to make
more money,’’ and ‘‘to pursue another
job within the field’’ (P ¼ 0.02;
P < 0.001; P ¼ 0.01).

TABLE IV. Research Barriers Identified by Genetic Counselors

Likert scale responses

Total (N) 1/2 (Disagree) 3 4/5 (Agree)

Research barriers (%) (%) (%)
I do not know how to do research 501 54.3 22.4 23.4
I do not have time to do research 502 20.3 14.5 65.1
It is not my job to do research 500 57.0 14.0 29.0
Research does not really interest me 500 65.6 17.6 16.8
It is not necessary for me to do research 497 63.0 21.1 15.9
I do not know what to do research on 499 58.3 22.8 18.8
I have not had the opportunity to do research 499 51.5 22.0 26.5
Grant barriers
I do not know how to write a grant 470 28.7 16.6 54.7
I do not have time to write a grant 472 18.2 14.6 67.2
It is not my job to write grants 473 37.2 16.7 46.1
Grant writing does not really interest me 472 34.7 18.2 47.0
It is not necessary for me to write grants 469 46.7 23.5 29.9
I do not know where to apply for grants 470 39.4 24.3 36.4
I have not had the opportunity to write a grant 475 34.9 18.9 46.1
Manuscript barriers
I do not know how to write a scientific paper 488 66.6 15.4 18.0
I do not have time to write a scientific paper 493 20.9 20.7 58.4
It is not my job to write scientific papers 486 57.2 19.3 23.5
Writing scientific papers does not really interest me 492 62.0 20.1 17.9
It is not necessary for me to write scientific papers 486 65.8 20.8 13.4
I do not know what to write a scientific paper on 489 62.6 22.3 15.1
I have not had the opportunity to write a scientific paper 490 55.9 18.4 25.7
ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
TABLE V. Reasons Why Genetic Counselors Would Pursue an Additional
Advanced Degree
Recent grads Experienced Chi-square
Reasons
For personal fulfillment/satisfaction
For career advancement/promotion
To make more money
To increase level of autonomy
To specialize in a certain field/area
To pursue another job within the field
To change careers
Other
*Statistically significant.
Outlook for the Future
Ninety-five percent (495/521) of
respondents indicated they anticipate
that they will still be working in the
genetic counseling field in 2 years.
However, only 64.8% (335/517) indi-
cated that they will still be working in the
field in 10 years. The most common
reason indicated was ‘‘no room for
promotion’’ (n ¼ 98). ‘‘Burnout’’ was
the second most common reason with
37.6% of the responses (n ¼ 73).
DISCUSSION
The study showed that there was no
significant difference in the amount of
time that recent graduates or experi-
enced graduates currently devote to
research; nor was there a significant
difference in the amount of time each
group would ideally like to be devoting
to research. Recent graduates were
significantly more likely to have taken a
research design course, to have com-
pleted a required thesis, and to have
learned to write a grant or research
proposal. This suggests that genetic
counseling graduate programs have
adapted their research requirements
and didactic curricula over the past few
years. This study indicated that the vast
majority of genetic counselors (84.5%)
have been involved in some aspect of
research, including research conducted
(n ¼ 301) grads (n ¼ 219) analysis
% (n) % (n)
48.5 (146) 41.1 (90) P ¼ 0.09
40.5 (122) 30.6 (67) P ¼ 0.02*
37.2 (112) 21.9 (48) P < 0.001*
28.2 (85) 21.5 (47) P ¼ 0.08
17.3 (52) 14.2 (31) P ¼ 0.34
15.9 (48) 8.2 (18) P ¼ 0.01*
12.3 (37) 11.4 (25) P ¼ 0.76
1.3 (4) 3.7 (8) P ¼ 0.08
in graduate school. The most common
research activities were clinical research,
case study, or review of the medical
literature. This suggests that the majority
of research that genetic counselors are
engaged in is related to patient care.
We made an effort to quantify the
amount of time genetic counselors are
committing to research (in 25% incre-
ments), and to assess their opinions about
this research time. The majority of
genetic counselors indicated that their
ideal job would have more research time
than is present in their current job and
that their ideal percent of research work
time would be 25%. It is unknown how
this finding compares to the amount of
time other allied health care profes-
sionals typically spend conducting
research. This finding raises the issue
that genetic counselors are seeking job
opportunities that include a substantial
research component. In parallel to this
expressed interest in research, the
ABGC has endorsed the role of research
in accreditation and may further delib-
erate whether it is also important to
qualifying for certification. Over two-
thirds of genetic counselors (69%) plan
to perform research at some point in the
future. Our data indicate that genetic
counselors’ main barrier to conducting
research, writing grants and scientific
papers for publication, is lack of time.
Counselors felt that they possessed
research skills and motivation for these
281
activities. The majority of the respon-
dents also indicated that they did not
know how to write a grant, did not have
interest in writing grants, or had not had
the opportunity to write a grant. These
findings were consistent with previous
general research studies that found that
acquiring funding to support scholarly
efforts may be especially difficult for
novice researchers [Gething and Lee-
larthaepin, 2000].
A major implication of these find-
ings is that the majority of the respond-
ing genetic counselors would prefer to
spend a minority of their time conducting
research. Time constraint was cited as
the largest barrier to conducting
research by these professionals, yet a
majority of the respondents would only
ideally spend a minority of their time
related to research. This indicated that
genetic counselors do not feel that there
is time to spare to perform research and
write grants and manuscripts; however,
if there were no time constraints in an
ideal scenario, they would still prefer to
spend the majority of their time on
clinical activities. It can be very difficult
to be successful at an academic career
while spending the minority of one’s
time conducting research. Thus, the
profession must question whether or
not clinical genetic counselors are best
suited for furthering the academic pur-
suits of their own profession.
Doctoral Degree History
In 1989, the Education Committee of
the National Society of Genetic Coun-
selors (NSGC) met to discuss a variety of
issues, including advantages and disad-
vantages of additional advanced graduate
education in genetic counseling [Walker
et al., 1990]. The advantages included
greater opportunity in academic settings
to acquire teaching roles and grant
funding, the development of research
skills, and personal satisfaction/profes-
sional recognition. The disadvantages
included devaluing the master’s-level
genetic counselor, replacing the master’s
degree as the terminal degree for clinical
practice, diverting practicing clinical
counselors back into school, and grad-
uating genetic counselors who have
282 AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
doctoral training but no clinical experi-
ence. That same year, a survey of full
NSGC members assessed the perceived
need for a doctoral degree and individual
interest in pursuing a doctoral degree
[Gaupman et al., 1991]. At that time,
54.4% of respondents indicated a need
for a doctoral degree in genetic counsel-
ing, and 44.3% of respondents indicated
they would pursue such a degree. The
reasons most often cited for seeking a
PhD in Genetic Counseling were pro-
fessional recognition, a desire to specia-
lize in a particular area, and greater depth
of knowledge. The authors concluded
that the creation of a doctoral degree
would be a natural progression for the
profession and would strengthen the
position of genetic counseling within
the academic community.
Relevant literature on the topic of
developing a new doctoral degree in an
allied health profession comes from the
fields of nursing, physical therapy, and
occupational therapy. The nursing field
offers advanced training in the form of a
PhD or clinical doctorate. The PhD is
considered to be an academic degree that
is research-oriented and involves disci-
plined learning and depth of knowledge.
Nurses with this degree are often
principal investigators who conduct
research to expand the profession’s
knowledge base. A clinical doctorate is
a professional degree, which emphasizes
advanced clinical practice with the
integration of research [Fields, 1988].
The fields of physical therapy and
occupational therapy offer the Doctor
of Physical Therapy and Doctor of
Occupational Therapy degrees, respec-
tively. These clinical doctorates were
considered by the professions to be
another pathway to better serve the
patient, the profession, and society as a
whole [Threlkeld et al., 1999]. Attaining
a doctorate was perceived to be enrich-
ing on both a professional and personal
level, with students noting improve-
ments in their self-confidence, problem-
solving, critical-thinking, and cognitive
abilities [Hudacek and Carpenter,
1998]. For each of these fields, the
creation of a doctoral degree helped to
expand the profession beyond the clin-
ical realm.
Current Thoughts on a PhD
in Genetic Counseling
At the time of the study, a small number
of respondents (2.5%) were in the
process of pursuing an additional
advanced degree. The degrees included
MPH, MBA, MSc, JD, and PhD in
Genetics, Epidemiology, or Psychology.
Almost a quarter of all respondents
indicated plans to pursue an additional
advanced degree in the future, in fields
such as public health, epidemiology,
psychology, counseling, business, ethics,
and education. Many genetic counselors
plan to formally return to school some-
day, and are motivated to work within
current degree-granting confines to
continue their education. In 1991, 44%
of genetic counselors responding to a
related survey indicated their intent to
pursue doctoral education and our find-
ings suggest that this has not occurred.
Similarly, a number of our respondents
(34.1%) indicated their interest in a PhD
in genetic counseling, perhaps due to the
specificity of this degree to the profes-
sion. Based on the information from
other allied health disciplines, the field of
genetic counseling should also consider
the clinical doctorate as an alternate
avenue for advanced graduate educa-
tion. Research toward a clinical docto-
rate could be directly related to the care
of patients. A clinical doctorate may
appeal to genetic counselors who plan to
remain in a clinical primary role,
although this study did not explicitly
assess interest in such an option.
Recent graduates were significantly
more likely to be interested in pursuing a
PhD in genetic counseling than experi-
enced graduates, perhaps because they
had more extensive research experiences
in graduate school than experienced
graduates. The role of genetic counse-
lors is constantly changing and it is
possible that recent graduates have a
different vision for their future within
the profession than experienced gradu-
ates. In addition, experienced graduates
have been out of school for a longer time
and may have families and be established
in their communities, so enrolling in a
specialized doctoral training program
may be less practical.
ARTICLE
One-third of respondents did not
anticipate still working in the field in
10 years. It is of concern that 54.2% of
this group consists of recent graduates.
Respondents identified the main reasons
to leave the profession as (1) no room for
promotion, (2) burnout, and (3) anti-
cipate a career change. The most
common write-in response was ‘‘limited
salary potential.’’ The 2004 NSGC
Professional Status Survey supported this
data with the finding that only 33% of
respondents were satisfied with their
‘‘opportunity for advancement’’ and
only 29% were satisfied with their
‘‘earning potential’’ within the profes-
sion [Parrott and Manley, 2004]. We
believe that these genetic counselors are
expressing their need for something
‘‘more’’ from the profession, and are
willing to leave the field in order to
pursue it. A doctoral degree specifically
in genetic counseling may help to retain
this group of genetic counselors; we
speculate that they would have oppor-
tunities to advance their position within
the field.
LIMITATIONS
One limitation of this study was the
possibility of response bias, since the
experiences or views of the respondents
may be different from non-respondents,
and the response rate was only 32.7%.
Although low response rates are a
common limitation of survey research,
we attempted to account for this by
comparing our socio-demographics to
other surveys conducted within the field
of genetic counseling and the sample
appears to be typical. The study also had
the potential for self-report bias, so the
respondents’ responses may not accu-
rately reflect how they spend their time
or their graduate education. There was a
limitation in our assessment of the
amount of time that each respondent
devoted to each genetic counseling role
due to the predetermined 25% interval
scales. This problem could have been
alleviated by using a 10% interval scale or
using a range of percentages rather than a
predetermined response scale. We were
also restricted by the quantitative design
of the study, and further qualitative study
ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
is warranted to gain further insight and
characterization into issues such as
barriers to research and the research
goals of genetic counselors.
SUMMARY
Implications for Future Research
The results of this study demonstrate that
a significant number of genetic counse-
lors are currently conducting research,
and that many more plan to perform
research in the future. These results
reflect the maturation of our field, in
that a large sector of NSGC members
considers active involvement in research
to be a core genetic counseling role.
Fostering genetic counselors’ desire to
generate research related to genetic
counseling practices will further facil-
itate our understanding of these profes-
sional practices. In 1989, Gaupman et al.
commented that doctoral training pro-
grams would help solidify the genetic
counseling profession in academia. They
also recommended that doctoral pro-
grams be formally endorsed by the
NSGC and predicted that doctoral
training programs would be established
within the next 10 years. Recently, a few
genetic counseling training programs
have initiated PhD tracks which
facilitate research and promote the
attainment of PhD degrees for genetic
counselors. However, these programs do
not award a doctoral degree in genetic
counseling. Such a degree would require
state education boards to embrace a new
doctoral degree. Most states strongly
resist adding new degree programs when
the research can be done within existing
programs. Our study demonstrates that a
significant number of genetic counselors
continue to have high interest in a
doctoral degree in genetic counseling
and suggests that our profession is
anticipating the development of a spe-
cific genetic counseling doctoral degree.
However, additional research is needed
to investigate the feasibility and potential
obstacles to such degree development. It
would also be informative to investigate
if genetic counselors would rather pur-
sue a PhD in Genetic Counseling in
preference to the additional advanced
degrees that they are currently planning
to pursue. Further studies are also
needed to determine how the role of a
PhD genetic counselor would differ
from that of a MS genetic counselor
and if employers would be interested in
hiring doctoral-trained genetic counse-
lors. Another important direction for
future research is to determine if the
level of job satisfaction and professional
retention improved after the attainment
of a doctoral degree.
ACKNOWLEDGMENTS
We thank all the genetic counselors who
completed our survey.
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