Supplemental Table I. Key Findings from Selected Articles
Author/Design/
Sample Size/Population
Objective
Characteristics
Barriers
Conclusions
Bias/Quality
Score
Family History
Fuller et al., 2009;6
68 PCPs - (family practice
Quantitative surveys;
[FP], general internal
Examined
medicine [IM], pediatrics
perceptions
[P]), advanced practice
regarding patient-
nursing [APN] from Ohio;
generated family
24.3% response rate
history (FH) tools
Mathers et al., 2010;32
21 General Practitioners (GP)
Qualitative
from the West Midlands,
telephone
UK; Response rate not
interviews; FH and
reported

Not enough family history information

Biological relationships in family history are
pedigree would improve their ability to assess
unclear
patient risk. Also, 70% felt patient-generated
Not enough confidence in accuracy of information
computer pedigree would either have no effect on
being provided
or would increase the number of patients that

Lack of general genetic knowledge
could be seen in a day.

Lack ability to conduct risk assessment

Hard to keep up to date with evidence

Concerns about making the correct management
practice. Study GPs’ stated use of family history
decisions
taking as a part of clinical decision making
Requested additional training in genetics,
acknowledges that there is genetic influence in
specifically with regards to referrals
common multifactorial disease, as well as for
Moral concerns such as a perception that genetics
single gene disorders. Educational policy
may detract from a focus on the social influences on
interventions should not focus on knowledge
health
deficit models, rather on how appropriate
Potential inequities resulting from differential
practice is constructed by GPs within context of
uptake of genetic risk assessment
roles and identities.


genetic risk
assessment in

primary care


Trouble collecting accurate FH info from patients
PCPs (73%) felt a patient generated computer
Genetic concepts are clearly part of current GP
2/2
22/28
due to recollection

Genetics was not perceived to have an impact on
their practice

Management of genetic conditions was thought to
require complex, high-level knowledge that is only
available from a specialist
Williams et al., 2011;33
11 PCPs (FP, IM, P); 64%

Time pressures to collect detailed histories

Competing demands of varied service developments

Insufficient tools to assess risk

Perceived lack of therapeutic interventions

Difficult to keep updated with evidence
Most primary care physicians had an overall positive
Qualitative, semi-
response rate; US - Utah

Exposure to potential liability
experience with FH; the balance of the positive
structured
area

Time
and negative experiences did not relate to degree

Perceived inaccuracy and incompleteness of
of EHR use for FH. Use barriers and positive
patient provided FH info
experiences of FH collection to inform redesign
Process of collecting and recording FH is
of systems.
interviews;
Experiences with FH

21/28
challenging

Lack of therapeutic interventions

Confusion on use of FH because of a lack of
guidelines
Wood et al., 2008;29
40 physicians (FP, IM, OB-

Lack of awareness of guidelines or
These physicians regarded cancer FH as important,
Qualitative
Gyn) Response rate not
recommendations for interpretation of FH, some
but process and content were not standardized.
interviews; Barriers
reported; US - New
knew guidelines existed but didn’t know about
Address systems barriers to utilize available
23/28
to obtaining and
England
using cancer FH
their content

Lack of skill conducting patient risk assessment

Unable to stay updated with knowledge

Limitations of patients' knowledge of FH family

Language and cultural barriers

Time needed to clarify and interpret information

Lack of clear, concise, practical and accessible
cancer risk management opportunities.
guidelines to assist in collection and management
decisions
General Perceptions
Bathurst and Huang,
129 GPs; Response rate not
2006;12 Qualitative
reported; Australia –
semi-structured
Sydney and Australian
interviews; General
Capital Territory

Knowledge of advances in genetics limited, not
Report minimal impact on practice and not included
familiar with modern genetics
in referral loop of patients. GPs’ attitudes toward

Ability to interpret genetic results correctly
modern genetics seem disengaged and they are

Disclosure and confidentiality to inherited positive
ambivalent toward the role they now play or will
or carrier status
play in genetic services.
perceptions around
developments in

Lack of reimbursement by Medicare
genetics and impact

Cost of testing
on primary care

Genetic services have minimal impact on their
practice

Not clear about role of GPs in referral network

Time to provide counseling

Lack of easily accessible and relevant educational
9/28
resources
Huang et al., 2005;10
364 GPs; Response rate not
Quantitative on-line
reported; Australia –
survey; GPs
Western Sydney

Accuracy of tests

Lack of confidence in delivering services,

experiences towards

new genetics
The majority (80%) of PCPs thought integrating
inadequate training in new genetics
genetic counseling into their practice was
Inability to keep up with research, the
challenging but thought it would improve quality
overwhelming amount of information
of care and 88% expressed interest in future
83% lacked confidence in offering genetic
education in genetics.
1/2
counseling

Time constraints in seeking out appropriate
information

Difficult integrate genetic counseling into their
practice (80%)
Robins et al., 2004;7
Qualitative focus
39 GPs; 10% response rate;
Australia

Access to educational resources

Genetics is for specialists

Lack of basic genetics knowledge

Lack knowledge of genetic testing and
genetic testing if they feel it changes their
communicating test results
management to benefit the patient. Provision of
groups; Examine
GPs respond more enthusiastically to genetics and
perceptions

Confidence in patient risk assessment
information available as the need arises would
regarding genetics

Difficult to convey information (probability, legal
facilitate the integration of genetics as practices
concerns)
of primary care.
in primary care

Ethical concerns that genetic tests have potential
causing patient anxiety

Insurance implications for genetic testing
18/28
Trinidad et al., 2008;23
24 PCPs (FP, IM, P); 20%

Providers’ liability

Informed consent issues

Genetics has low impact in practice

News media triggers irrelevant patient test request

Might not change management of patient

Lack of training in basic genetics. Don’t
PCPs are interested in learning about who should
Qualitative
response rate; US - Five
understand the role of race and ethnicity in certain
receive genetic testing and what tests are
interviews; Attitudes
Northwest states
heritable conditions
available. Training in counseling and risk
Insufficient knowledge is a barrier to use of
communication is desired, as are 'just-in-time'
medicine and
genetic tests, unable to provide counseling after a
resources to guide clinical decisions. There is a
perceived needs for
positive result
need to highlight the clinical relevance of GM to
Lack of confidence in addressing questions or
primary care, with an emphasis on red flags.
towards genetic
education


providing genetic counseling

Unable to keep up with volume of information, the
pace of scientific advances

Ethical concerns regarding predictive testing /
children for adult-onset diseases

Implications for patients’ insurability and
employment

Confidentiality, and intra-family communication,
potential impact of a positive genetic finding on
other family members

Limited access to local genetics specialists

The lack of convenient access to current
13/28
information about genetic testing

Genetic medicine is not highly relevant to their
everyday practice

Unlikely to change management; lack of clinical
application

Need guidelines to help identify patients who
should receive genetic testing
Carroll et al., 2008;15
1072 FPs and Ob-Gyn; 49%
Quantitative cross-
response rate; Ontario,
sectional survey;
Canada


Genetic services for

hereditary cancers
Lack of confidence in core competencies in
PCPs are aware of cancer genetics services; their use
genetics such as family history
is associated with increased knowledge of
Confidence in patient risk assessment for
services, and confidence in skills. PCPs would
hereditary cancer
like more timely services and education about
Low awareness of availability of services for
cancer and genetic susceptibility testing.
1/2
cancer genetic services and knowing where to refer
patients for cancer genetic counseling

Improved access/availability for patients to genetic
services; more clinics

Timeliness of appointments and genetic testing
results
Stermer et al., 20048;
35 GPs, practice nurses, and
Qualitative focus
specialist genetic nurses;
groups and
London, UK

Lack general genetic knowledge

Need education about calculation and
and surveillance are inconsistent and inadequate
communication of risk
in the UK. Roles of the PCP need to be clarified;
Current systems for assessing risk, delivery of advice,
interviews; services

Potential for over-medicalization of patients
education and information about services is
for individuals with

Psychosocial distress
needed to support those undergoing screening
FH of colorectal

Poorly defined role of primary care
and surveillance. Methods to ensure effective and
12/28

cancer
Lacking effective follow-up or recall system for
meaningful risk communication are inadequate.
patients requiring surveillance
Rogausch et al., 2006;39
106 GPs; 28% response rate;

Results may have insurance implications for
The reported concerns of patients and GPs differ with
Mixed Methods
Westfallen-Lippe,
patients (61.3%); employers or insurance plans
respect to negative psychosocial consequences,
Perspectives on
Germany
may pressure patients to take tests (71.7% very
discrimination, and privacy. Information should
worried)
be developed to prevent unrealistic fears or hopes
Fear for unanticipated findings from
for patients around pharmacogenomics medicine.
pharmacogenomic

testing
1/2
pharmacogenomics test (21.7%); patients feel
"inadequate" (27.4%)
Genetic Evaluation
Acheson et al., 2008;40
Quantitative cross-
190 FPs; 38.20% response rate;
US

Insurance discrimination (7/190)

Challenging decisions for patients for reproductive
consult with geneticists. Access is more
choices (6/190)
difficult in rural areas. Data should be used to
Potential harms of genetic tests outweigh benefits
organize genetic services and planning
(6/190)
educational programs.
sectional survey;
Perceptions of

genetic evaluations
and access to genetic

services in primary
care
Patient refuse to disclose risk of serious condition to
relatives (2/190)

18% social dilemmas or ethical dilemmas (eg,
disclose non-paternity)

High cost DNA test (5/190)

Unclear on role of the PCP for testing (1/190)
FPs address variety of genetic issues and frequently
1/2
Houwink et al., 2011;14
20 GPs and midwives;

Lack of insurance coverage (4/190)

Unable to obtain a genetics evaluation

Unclear guidelines on age to screen for carriers

Need for genetic knowledge, lacked insight as to the
All PCPs acknowledged the importance of genetic
23/
28
Qualitative focus
response rate not reported;
genetic background of a disease, information about
education and strongly emphasized perceived
groups; Explore the
Netherlands
genetic testing
knowledge deficiencies be addressed.
role of genetics in

Need for knowledge about when to refer
primary care

View FH as important but don’t know how to use it

Ethical dilemmas and psychosocial effects related to
genetics – privacy issues, consanguinity concerns,

Time

Role of genetics in primary care viewed as unduly
limited, unsure of responsibilities

Inter-cultural differences in prenatal or
preconception testing, language barriers

Difficult to enter FH in EHR

Lack of clear guidelines about when a GP needs to
be proactive and bring up familial disease
Al-Habsi et al., 2008;16
36 GPs; 64% response rate; UK

Qualitative; Factors
Lack of updated knowledge on genetics and local
GPs adopted a reactive rather than proactive role in
genetics center and services provided (92%)
the provision of genetic services for
influencing referrals

Don't know what FH info to collect
asymptomatic patients with a FH of cancer.
in primary care of

Concern of unnecessary anxiety decreased referrals
Referral guidelines that are applicable in
asymptomatic
context of a busy primary care clinic need to be
15/28
patients with FH of
and patient anxiety increased referrals

cancer
developed.
Fear of legal implications of genetics
[discrimination]
Brandt et al., 2008;26
Quantitative survey;
82 PCPs (IM, FP and Ob-Gyn)

Patients don’t know accurate information on FH

Patients make most referrals themselves

Lack of genetics knowledge (60% wanted more
34% response rate; US
PCPs not comfortable referring and discussing
cancer genetics education)
genetics. There is a need to address barriers and
Not comfortable identifying patients for referral and
physician-targeted marketing and education
and comfort for
limited knowledge regarding patient eligibility for
may help.
cancer genetics
referral

Physician referrals
Iredale et al., 2005;21
Qualitative
interviews;
19 GPs; Response rate not

Discussing genetics

Lack of program awareness for referrals

Insurance discrimination (31%)

Patient not interested in referral (54% of situations)

Insurance coverage (44%)

Low knowledge about cancer genetics, unsure how
reported; UK

Perceptions of
genetic evaluation
to address consanguinity
practitioners in the UK; ease of access to
Low knowledge about referrals despite distribution
services is more important than distance.
of referral guidelines;

for cancer genetics
Rurality (isolation, lack of social networks, poor
transport, decreased accessibility, referral patterns to
secondary and tertiary facilities;

Rurality plays a role in referral behavior of general
Time constraints to take FH
2/2
16/28
Lowstuter et al., 2008;19
1222 PCPs (IM, Ob-Gyn, NP);
Cross sectional
Response rate 62%
suvey; Influence of
California

Language barriers

Lack knowledge regarding genetic discrimination

genetic

discrimination
perceptions and

knowledge on cancer
genetics referral
California PCPs have significant concerns about
legislation
discrimination and knowledge deficits may be
Lack ability to recognize hereditary family cancer
barriers to cancer genetics referrals. There is an
problems
identified need to improve clinician education
Lack of comfort conducting patient risk assessment
in genetics generally, and in genetic
and recommending genetic counseling
discrimination legislation.
0/2
Concerned patients will decline testing because of
fear of health insurance discrimination (75%)
practice among

clinicians
Testing created health insurance problems for
patients with and without cancer

Referral barriers include a lack of opportunity and
unclear referral process
Chen et al., 2008;34
Quantitative survey;
Use of genetic
137 pediatricians; 20%
response rate; Alabama

Lack of medical evidence

Inability to stay current with testing options

Don't understand testing well enough
evaluation of developmental delay but barriers

A genetics evaluation and genetic testing will cause
must be addressed in order to make genetic
parent anxiety
evaluation more mainstream into primary care
practice.
assessment in
evaluation of

Prefer genetics experts to explain
developmental delay

Not enough time to explain results
in pediatrics

Lack of insurance reimbursement

Cost of genetic testing
Pediatricians appreciate the benefits for a genetic
2/2

Distance from genetics center

Lack of meaningful results

Not enough knowledge about CF (n=18)

Limited interest in target population (n=15)
but some systems obstacles need to be
Examine how cystic

Possibility of developing the perfect child (n=14)
overcome.
fibrosis (CF) carrier

High cost of carrier test (n=24)
screening be

Costs of program for the practice (34%);
provided

Lack of referral opportunities

Not enough time/high workload (82%)

Logistical supports needed for providing a CF
Poppelaars et al., 2003;18
Quantitative survey;
102 GPs; 52% response rate;
Netherlands
GPs have positive attitudes towards CF screening
0/2
carrier screening program: financial support (86%),
informational leaflets (83%), staff (75%), protocols
(69%), tubes for collecting samples/sending material
(72%), software (57%), telephone help desk with
genetic center (61%)
Poppelaars et al., 2004;38
Quantitative survey;
102 GPs; 52% response rate;

Carrier screening isn’t a GP task

Negative policy judgment (n=22)

Fear CF screening will be the first step in
developing a perfect child; Cf carrier test results in
screening and nearly all are supportive of
Attitudes of PCPs
medicalization of pregnancy; against abortion; if
offering genetic services during preconception
towards
they viewed the condition to be not severe, they did
care.
preconceptional CF
not want to do screening, religion
carrier screening
Netherlands
The majority of GPs are supportive of CF carrier

Put burden on people who do not want to know
0/0
about it; carriers may feel less healthy, cause anxiety
in patients

Afraid discrimination of CF carriers by insurance
companies and social environment
Aalfs et al., 2003;13
59 GPs of pregnant women who

Personal/professional conflict

Concern for patient confidentiality

Knowledge of clinical genetics limited
Limited alertness and awareness exists among GPS
Quantitative survey;
had received genetic

Lack of confidence in providing counseling
about genetic risk in pregnancy and the role in
Referrals for genetic
counseling; 87% response

29% of GPs not involved in genetics referral
appropriate timing of genetics referral.
counseling during
rate; UK
1/2
Knowledge or barriers did not explain a lack of
pregnancy
alertness. Routine FH should be implemented in
general practice.
Morgan et al., 2004;17
632 Ob-Gyns, Fellows and

Level of familiarity with genetics and CF (58.9% of
There is a need for simplifying clinical guidelines
Quantitative cross-
Junior Fellows of
physicians in general rated their confidence as more
for population-based genetic screening,
sectional survey;
American College of
than a moderate concern)
assessment of implementation of these
Practice patterns for
Obstetricians and
Lack of confidence in ability to interpret of deal
guidelines, and continued provider education in
preconception and
Gynecologists (ACOG);
with a positive screening test (59.5%)
genetics
prenatal screening
64% response rate; US


for CF
Low frequency of CF compared to other important
OB problems (48%)

Unreimbursed time spent on patient education
(39.3%)

Low rationale for screening for a chronic condition
(39.3%)
1/2
Nagle et al., 2008;28
27 GPs; Response rate not

Providing pre-test probability that was meaningful
The increasing availability and utilization of
Qualitative focus
reported; Victoria,
and conveying a residual risk; communicating
screening tests, in particular first trimester tests,
groups; Informing
Australia
complex information about limitations of screening
has expanded GPs' role in facilitating women's
Lack of confidence and skill in dealing with test
informed decision-making. First trimester
information;
consultations should be increased in length of

women about
prenatal screening
tests for fetal

Staying current with information
time to allow for complex information
abnormalities

Being the 'bearer of bad news’
regarding genetic screening tests to be

Potential to do more harm than good
discussed.

The implication that testing impacted society's view
19/28
of disability likelihood for anxiety; Feeling of
concern during an exciting time; Promoting “perfect
child”

Time pressures to discuss testing early in pregnancy
with competing information to discuss in short time
period

Limitations of screening tests

Insufficient knowledge about
PCPs recognize the benefits of genetic testing and personalized
personalized medicine (81%)
medicine but they lack education, information, and support
needed to practice effectively.
Genetic/Genomic Testing
Bonter et al., 2011;11
Quantitative cross-
147 FPs; 9.70% response
rate; Canada
sectional survey;

Lack of ability to interpret tests (75%)
Understand roles and

Lack of comfort discussing results with
experiences regarding
genetic testing
patients (79%)

Patient anxiety

Patients fear discrimination based on GT
1/2
results (43%)

Lack of insurance coverage

Cost of tests is prohibitive (46%)

Tests that would be useful in their
practice are not readily available (49%)

Lack of time and resources to educate
patient; time to obtain results too long for
a treatment decision (20%)

Too much paperwork/bureaucracy

Lack of reimbursement

Insufficient evidence to report ordering
genetic tests (49%)

Lack of evidence-based clinical
information and clinical guidelines

Genetic testing will not improve
outcomes (15%) and will not influence
treatment (12%)
Hindorff et al., 2009;4
112 GPs (IM, FP, Ob-Gyn);
Case-control
67% response rate;
Motivations and
Washington


behaviors regarding
Factor V Leiden (FVL)

genetic testing

Genetic discrimination for patients
Physicians who more frequently ordered FVL genetic tests
(23.1%)
reported higher confidence in using genetic tests and fewer
Privacy and confidentiality of results
barriers to genetic testing than those who ordered fewer
(21.1%)
FVL tests. Results show knowledge-to-practice translation
Patient not interested in genetic testing
issues that are important to successful integration, the lack
(13.5%)
of availability of genetic counseling being most significant.
Genetic counseling services not well
NA
integrated into my practice (76.9%)

Inconvenient to obtain the test (17.3%)

Sensitivity and specificity of the test is
too low

Unclear if test results would alter patient
management

Current GHC guidelines do not
encourage genetic testing
Lubin et al., 2009;22
Approx. 35 PCPs (FP, P, Ob-
Qualitative focus
Gyn); Response rate not
groups; Perspectives
reported; US

Recommendations were provided to improve genetic test
tests (DNA-based) in practice
reports to enhance readability, comprehension, and
Lack of confidence in interpreting test
communicating essential information. Reports should
results
include: interpretation of results, guidance for next steps,
Potential for undue harm by patients’
and the reason for testing, patient
misinterpretation of results
information/demographics, and ancillary information for

Time
specialists.

Challenges with information technology

on molecular genetic

testing and laboratory
Lack of knowledge for using genetic
results
20/28
systems

Not aware of existing educational
resources
Morgan et al., 2004;42
Quantitative crosssectional survey; Role
328 GPs; 56% response rate;

New Zealand

of the GP in genetic
testing
Lack of knowledge of genetic theory, not
familiar with rare disorders
requested further information for knowledge about how to
Limited knowledge of genetic testing and
integrate genetic testing into primary care practice.
application to primary care

GPs recognized the importance of role of genetic testing and
Lack of confidence to discuss genetic
½
test results and counsel

Ethics of predicting possible future
events, cultural issues, safety in those
mentally unable to cope with such news

Distance (39.6%), Ability to contact
services (60; 18.3%), accessibility of
services (22.3% said genetic services are
not at all or not accessible)

Availability and access to genetic tests

Waiting time to access services (30.2%)

Genetic testing should be handled by
genetic services
Welkenhuysen and Evers-
415 GPs; 60% response rate;

Cost to patients (39%)

Need genetic education to play a role in
The availability and type of therapeutic options, age of onset,
context of predictive genetic testing
and ethical concerns influenced GPs’ attitudes for
Quantitative survey;
(10.7%); 54.9% want CME for predictive
predictive testing for breast and thyroid cancer, Alzheimer
Predictive testing for
genetic testing
disease, and Hungtinton’s disease. GPs were supportive of
Psychological distress for genetic testing
a limited role in practice - education directed towards non-
in minors
directiveness and ethical implications of same.
Kiebooms, 2002;
24
late-onset diseases
Belgium


Potential for stigmatization
[discrimination]

GPs have no role to play in genetic
testing (5.6%)

Patient wait time
0/2
Suther and Goodson,
400 PCPs (IM, FP, GP, P,
2004;35 Quantitative
Ob-Gyn); 30% response
cross-sectional survey;
rate; Texas
Genetic medicine in

Lack of therapeutic interventions

Staying updated on genomic-related
GMs relative advantage, compatibility with current practice,
knowledge
complexity, and observability were strongest predictors of

Difficult to locate services (38.3% agree)
likelihood to adopt GM tasks into primary care practice

Difficult to incorporate into workflow:
primary care
0/2
genetic counseling (48.5%); take a more
detailed FH (70.3%) genetic testing
(48.3%). Disagree that genetic services
can be added gradually to existing
clinical practice (25.7%)
40 FPs; Response rate not

Knowledge and role inadequate
Qualitative focus
reported; Ontario,

Lack of confidence in counseling and
testing and its effect on family practice. Expanded role for
groups; Experiences
Canada
communication of risk
genetic testing included risk assessment, gatekeeping, and
Carroll et al., 2003;9
Participants realized the escalating expectations for genetic
with genetic

Patient anxiety
ordering genetic tests. Interventions should enhance the
susceptibility to cancer

Ethical dilemmas in testing and the
way FPs communicate information on genetics to their
anxiety about testing results for the
patients and develop appropriate educational tools.
patient/ secret-keeping in families (when
caring for entire families)

Anxious and unsure of role of PCP in
role in genomic medicine

Need point-of-care tools

Clinic flow

Access difficulty
23/28

Concern on validity of genetic testing

Lack of guidelines for genetic testing

Lack of evidence for managing
carriers/increased risk individuals
Friedman et al., 2003;37
59 PCPs (FP, IM, Ob, Gyn,
Quantitative cross-
P, GP); 17% response
sectional survey;
rate; Texas
Attitudes and practices

Uncertainty of test results

Difficulty in interpreting [genetic test]
Genetic testing and counseling in primary care increased in
results (34%)
Texas PCPs from 1996 to 2001. There exists a continuing

Impact of testing on insurability
need for educational programs on genetic testing for

Concern about patient reaction to test
genetic susceptibility.
around cancer
1/2
results 31%
genetics (changes over

Never had a need for genetic services
5 years)

Patient cost (69%)

Lack of insurance coverage for genetic
testing (73%)

Lack of availability of testing (55%),
genetic consultation (41%)

Lack of guidelines for what to do with a
positive test (61%)

Potential for false positive (29%), false
negatives (19%)
Kelly et al., 2007;20
Quantitative cross-
176 FPs; 40% response rate;
US – Kentucky and Ohio

Knowledge of cancer genetic testing

Access to a medical geneticist difficult
PCPs had a significant knowledge deficit in cancer genetics and
reported problems accessing medical genetics
½
sectional survey;
(66% somewhat or extremely difficult)
Identification of
hereditary cancers
Pichert et al., 2003;41
600 PCPs (IM, FP, OB-Gyn)
Quantitative; Genetic
45% response rate;
testing for hereditary
Zurich, Switzerland
breast cancer

Unable to deal with consequences of
PCPs approve of genetic testing for hereditary breast cancer
results 14%
and want to play a central role in management of families,

Psychological stress for patient (85%)
but lack knowledge to effectively do so.

Genetic testing has the potential do more
2/2
harm than good (65%)

Fear to breach confidentiality for other
family members (61%)

Potential for insurance or employment
discrimination (70%)

Not the provider's role to deliver this
type of information (5%)

Believe it is wrong to test for genetic
predispositions in absence of effective
risk reduction or effective surveillance
measures (69%)
Screening, Risk Assessment
Freedman et al., 2003;27
251 PCPs (FP, IM, OB-Gyn,

Don’t feel qualified to provide genetic
Need to provide physicians with cancer guidelines on use of
Quantitative cross-
GP); 70.4% response
counseling or testing to patients (29%
genetic cancer susceptibility tests (89% reported a need)
sectional survey;
rate; US
felt qualified)
and training for implementation.
0/2
Genetic testing for

cancer susceptibility
Lack knowledge in genetic risk
assessment and testing for cancer
susceptibility

Risk for insurance discrimination (81%
thought there was a risk);

Difficult to ensure confidentiality of test
results (53%);

Perception that patients shouldn’t
undergo testing until they have been
counseled (91% agree)

60% thought that genetic testing for
cancer susceptibility was not covered by
insurance

64% felt that testing is not readily
available

Genetic testing is not cost effective

Inaccurate or ambiguous results (45%
believe cancer risk from testing is
unclear)

No clear guidelines available (75%
believe this)

25% felt there is too high of a false
positive rate in cancer risk testing

82% wanted more education in genetic
risk assessment
Sabatino et al., 2007;30
66 PCPs (FPs and NPs); 53%

Lack of confidence in knowledge of risk
PCP assess risk based on FH, potentially missing others at risk
Quantitative survey;
response rate;
and risk assessment (of breast cancer
based on other criteria; infrequently discuss
Breast cancer risk
Massachusetts
genetics)
chemoprevention or genetic testing.
assessment and

More immediate issues to deal with
management in

Time, too many things to do during visits
primary care

Patient management would be the same

Insufficient evidence to support risk
1/2
assessment (of breast cancer genetics)
Vig et al., 2009;31
860 PCPs (39% family

Comfort with making screening and
The study considered barriers and practices stratified by
Quantitative survey;
practice, 29% internal
prevention recommendations and
referring patterns of PCPs. Physician characteristics
Cancer risk
medicine, 22%
uncertain about which patients are
associated with varying levels of engagement with cancer
assessment practices
obstetrics=gynecology
medically appropriate to refer (38.3%)
genetic risk assessment were identified. The profiles may
in primary care
(OB=GYN), 10% other)
Uncertain about how to make a referral
be useful in targeting decision support tools and services.

Response Rate 24.60%;
US
(24.6%)

Belief that the location of genetics
referral is inconvenient to the patient
(22.7%)

Insufficient tools to assess cancer risk
(19%)

Limited access to genetic counselors
(50.1%)
2/2

Barriers to referral include concerns
about cost for counseling and testing
(37.2%)

Information obtained from a genetics
evaluation would not be useful in patient
management (9.3%)
Walter et al., 2001;36
277 GPs and practice nurses;
Quantitative survey;
69% response rate;
New genetics and
Cambridge, UK


breast cancer risk
Potential genetic risk makes patients
Many perceive genetics with positive views and claim that is
anxious (45%)
already affecting their practice. However, genetics
Current level of advance is doing more
education and policies are lacking.
0/2
good than harm (21%)

Genetic risk would fit comfortably into
the general assessment of patient risk in
PC
Winquist et al., 2008;25
191 family physicians and

Expressed lack of knowledge for
Of those physicians who responded, nearly all reported offering
Quantitative cross-
obstetricians/gynecologis
counseling and wanted additional
maternal serum screening (MSS) to pregnant women in
sectional survey;
t; 39% response rate;
training (51%) Insufficient knowledge to
their practices. One third of physicians reported having
Prenatal genetic
Saskatchewan, Canada
counsel women with affected (genetic
concerns about the increasing capacity for genetic testing
disorders) pregnancies (31% for Down
of fetuses and the social, ethical, and clinical implications
Syndrome to 37% for Trisomy 18);
of such testing. There is a need to understand how value
Difficult to explain false
differences affect the uptake of new reproductive
negative/positive and limits of screening
technologies and implications for policy.
screening

tests to patients (54%)

MSS causes anxiety for patients (73%);
0/2
high false positive rate might cause
patients unnecessary anxiety (45%)

If MSS leads to termination of
pregnancy, is in conflict with physician
personal value system; Negative impact
of management option is in conflict with
their value system (26%)

Concerns about the increasing capacity
for genetic testing of fetuses and the
social, ethical and clinical implications
(1/3 of respondents)

MSS is too time consuming (28%)

Screening is not adequately reimbursed
(62%)