SupplementalTable I. Key Findings from Selected Articles

Author/Design/ Objective / Sample Size/Population Characteristics / Barriers / Conclusions / Bias/Quality Score
Family History
Fuller et al., 2009;6 Quantitative surveys; Examined perceptions regarding patient-generated family history (FH) tools / 68 PCPs - (family practice
[FP], general internal medicine [IM], pediatrics [P]), advanced practice nursing [APN] from Ohio; 24.3% response rate /
  • Not enough family history information
  • Biological relationships in family history are unclear
  • Not enough confidence in accuracy of information being provided
  • Lack of general genetic knowledge
  • Lack ability to conduct risk assessment
/ PCPs (73%) felt a patient generated computer pedigree would improve their ability to assess patient risk. Also, 70% felt patient-generated computer pedigree would either have no effect on or would increase the number of patients that could be seen in a day. / 2/2
Mathers et al., 2010;32 Qualitative telephone interviews; FH and genetic risk assessment in primary care / 21General Practitioners (GP) from the West Midlands, UK; Response rate not reported /
  • Hard to keep up to date with evidence
  • Concerns about making the correct management decisions
  • Requested additional training in genetics, specifically with regards to referrals
  • Moral concerns such as a perception that genetics may detract from a focus on the social influences on health
  • Potential inequities resulting from differential uptake of genetic risk assessment
  • Trouble collecting accurate FH info from patients 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
  • Time pressures to collect detailed histories
  • Competing demands of varied service developments
  • Insufficient tools to assess risk
  • Perceived lack of therapeutic interventions
/ Genetic concepts are clearly part of current GP
practice. Study GPs’ stated use of family history taking as a part of clinical decision making acknowledges that there is genetic influence in common multifactorial disease, as well as for single gene disorders. Educational policy interventions should not focus on knowledge deficit models, rather on how appropriate practice is constructed by GPs within context of roles and identities. / 22/28
Williams et al., 2011;33 Qualitative, semi-structured interviews; Experiences with FH / 11 PCPs (FP, IM, P); 64%
response rate; US - Utah
area /
  • Difficult to keep updated with evidence
  • Exposure to potential liability
  • Time
  • Perceived inaccuracy and incompleteness of patient provided FH info
  • Process of collecting and recording FH is challenging
  • Lack of therapeutic interventions
  • Confusion on use of FH because of a lack of guidelines
/ Most primary care physicians had an overall positive experience with FH; the balance of the positive and negative experiences did not relate to degree of EHR use for FH. Use barriers and positive experiences of FH collection to inform redesign of systems. / 21/28
Wood et al., 2008;29 Qualitative interviews; Barriers to obtaining and using cancer FH / 40physicians (FP, IM, OB-Gyn) Response rate not reported; US - New England /
  • Lack of awareness of guidelines or recommendations for interpretation of FH, some knew guidelines existed but didn’t know about 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 guidelines to assist in collection and management decisions
/ These physicians regarded cancer FH as important, but process and content were not standardized. Address systems barriers to utilize available cancer risk management opportunities. / 23/28
General Perceptions
Bathurst and Huang, 2006;12 Qualitative semi-structured interviews; General perceptions around developments in genetics and impact on primary care / 129GPs; Response rate not reported; Australia – Sydney and Australian Capital Territory /
  • Knowledge of advances in genetics limited, not familiar with modern genetics
  • Ability to interpret genetic results correctly
  • Disclosure and confidentiality to inherited positive or carrier status
  • Lack of reimbursement by Medicare
  • Cost of testing
  • 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 resources
  • Accuracy of tests
/ Report minimal impact on practice and not included in referral loop of patients. GPs’ attitudes toward modern genetics seem disengaged and they are ambivalent toward the role they now play or will play in genetic services. / 9/28
Huang et al., 2005;10 Quantitative on-line survey; GPs experiences towards new genetics / 364GPs; Response rate not reported; Australia – Western Sydney /
  • Lack of confidence in delivering services, inadequate training in new genetics
  • Inability to keep up with research, the overwhelming amount of information
  • 83% lacked confidence in offering genetic counseling
  • Time constraints in seeking out appropriate information
  • Difficult integrate genetic counseling into their practice (80%)
  • Access to educational resources
  • Genetics is for specialists
/ The majority (80%) of PCPs thought integrating genetic counseling into their practice was challenging but thought it would improve quality of care and 88% expressed interest in future education in genetics. / 1/2
Robins et al., 2004;7 Qualitative focus groups; Examine perceptions regarding genetics in primary care / 39GPs; 10% response rate; Australia /
  • Lack of basic genetics knowledge
  • Lack knowledge of genetic testing and communicating test results
  • Confidence in patient risk assessment
  • Difficult to convey information (probability, legal concerns)
  • Ethical concerns that genetic tests have potential causing patient anxiety
  • Insurance implications for genetic testing
  • Providers’ liability
  • Informed consent issues
  • Genetics has low impact in practice
  • News media triggers irrelevant patient test request
  • Might not change management of patient
/ GPs respond more enthusiastically to genetics and genetic testing if they feel it changes their management to benefit the patient. Provision of information available as the need arises would facilitate the integration of genetics as practices of primary care. / 18/28
Trinidad et al., 2008;23 Qualitative interviews; Attitudes towards genetic medicine and perceived needs for education / 24 PCPs (FP, IM, P); 20% response rate; US - Five Northwest states /
  • Lack of training in basic genetics. Don’t understand the role of race and ethnicity in certain heritable conditions
  • Insufficient knowledge is a barrier to use of genetic tests, unable to provide counseling after a positive result
  • Lack of confidence in addressing questions or 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 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
/ PCPs are interested in learning about who should receive genetic testing and what tests are available. Training in counseling and risk communication is desired, as are 'just-in-time' resources to guide clinical decisions. There is a need to highlight the clinical relevance of GM to primary care, with an emphasis on red flags. / 13/28
Carroll et al., 2008;15 Quantitative cross-sectional survey; Genetic services for hereditary cancers / 1072 FPs and Ob-Gyn; 49% response rate; Ontario, Canada /
  • Lack of confidence in core competencies in genetics such as family history
  • Confidence in patient risk assessment for hereditary cancer
  • Low awareness of availability of services for 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
/ PCPs are aware of cancer genetics services; their use is associated with increased knowledge of services, and confidence in skills. PCPs would like more timely services and education about cancer and genetic susceptibility testing. / 1/2
Stermer et al., 20048; Qualitative focus groups and interviews; services for individuals with FH of colorectal cancer / 35 GPs, practice nurses, and specialist genetic nurses; London, UK /
  • Lack general genetic knowledge
  • Need education about calculation and communication of risk
  • Potential for over-medicalization of patients
  • Psychosocial distress
  • Poorly defined role of primary care
  • Lacking effective follow-up or recall system for patients requiring surveillance
/ Current systems for assessing risk, delivery of advice, and surveillance are inconsistent and inadequate in the UK. Roles of the PCP need to be clarified; education and information about services is needed to support those undergoing screening and surveillance. Methods to ensure effective and meaningful risk communication are inadequate. / 12/28
Rogausch et al., 2006;39 Mixed Methods Perspectives on pharmacogenomic testing / 106 GPs; 28% response rate; Westfallen-Lippe, Germany /
  • Results may have insurance implications for patients (61.3%); employers or insurance plans may pressure patients to take tests (71.7% very worried)
  • Fear for unanticipated findings from pharmacogenomics test (21.7%); patients feel "inadequate" (27.4%)
/ The reported concerns of patients and GPs differ with respect to negative psychosocial consequences, discrimination, and privacy. Information should be developed to prevent unrealistic fears or hopes for patients around pharmacogenomics medicine. / 1/2
Genetic Evaluation
Acheson et al., 2008;40 Quantitative cross-sectional survey; Perceptions of genetic evaluations and access to genetic services in primary care / 190FPs; 38.20% response rate; US /
  • Insurance discrimination (7/190)
  • Challenging decisions for patients for reproductive choices (6/190)
  • Potential harms of genetic tests outweigh benefits (6/190)
  • 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)
  • Lack of insurance coverage (4/190)
  • Unable to obtain a genetics evaluation
  • Unclear guidelines on age to screen for carriers
/ FPs address variety of genetic issues and frequently consult with geneticists. Access is more difficult in rural areas. Data should be used to organize genetic services and planning educational programs. / 1/2
Houwink et al., 2011;14 Qualitative focus groups; Explore the role of genetics in primary care / 20GPs and midwives; response rate not reported; Netherlands /
  • Need for genetic knowledge, lacked insight as to the genetic background of a disease, information about genetic testing
  • Need for knowledge about when to refer
  • 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
/ All PCPs acknowledged the importance of genetic education and strongly emphasized perceived knowledge deficiencies be addressed. / 23/
28
Al-Habsi et al., 2008;16 Qualitative; Factors influencing referrals in primary care of asymptomatic patients with FH of cancer / 36 GPs; 64% response rate; UK /
  • Lack of updated knowledge on genetics and local genetics center and services provided (92%)
  • Don't know what FH info to collect
  • Concern of unnecessary anxiety decreased referrals and patient anxiety increased referrals
  • Fear of legal implications of genetics[discrimination]
  • Patients don’t know accurate information on FH
  • Patients make most referrals themselves
/ GPs adopted a reactive rather than proactive role in the provision of genetic services for asymptomatic patients with a FH of cancer. Referral guidelines that are applicable in context of a busy primary care clinic need to be developed. / 15/28
Brandt et al., 2008;26 Quantitative survey; Physician referrals and comfort for cancer genetics / 82PCPs (IM, FP and Ob-Gyn) 34% response rate; US /
  • Lack of genetics knowledge (60% wanted more cancer genetics education)
  • Not comfortable identifying patients for referral and limited knowledge regarding patient eligibility for referral
  • Discussing genetics
  • Lack of program awareness for referrals
  • Insurance discrimination (31%)
  • Patient not interested in referral (54% of situations)
  • Insurance coverage (44%)
/ PCPs not comfortable referring and discussing genetics. There is a need to address barriers and physician-targeted marketing and education may help. / 2/2
Iredale et al., 2005;21 Qualitative interviews; Perceptions of genetic evaluation for cancer genetics / 19GPs; Response rate not reported; UK /
  • Low knowledge about cancer genetics, unsure how to address consanguinity
  • Low knowledge about referrals despite distribution of referral guidelines;
  • Rurality (isolation, lack of social networks, poor transport, decreased accessibility, referral patterns to secondary and tertiary facilities;
  • Time constraints to take FH
  • Language barriers
/ Rurality plays a role in referral behavior of general practitioners in the UK; ease of access to services is more important than distance. / 16/28
Lowstuter et al., 2008;19 Cross sectional suvey; Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians / 1222 PCPs (IM, Ob-Gyn, NP); Response rate62% California /
  • Lack knowledge regarding genetic discrimination legislation
  • Lack ability to recognize hereditary family cancer problems
  • Lack of comfort conducting patient risk assessment and recommending genetic counseling
  • Concerned patients will decline testing because of fear of health insurance discrimination (75%)
  • Testing created health insurance problems for patients with and without cancer
  • Referral barriers include a lack of opportunity and unclear referral process
  • Lack of medical evidence
/ CaliforniaPCPs have significant concerns about discrimination and knowledge deficits may be barriers to cancer genetics referrals. There is an identified need to improve clinician education in genetics generally, and in genetic discrimination legislation. / 0/2
Chen et al., 2008;34 Quantitative survey; Use of genetic assessment in evaluation of developmental delay in pediatrics / 137pediatricians; 20% response rate; Alabama /
  • Inability to stay current with testing options
  • Don't understand testing well enough
  • A genetics evaluation and genetic testing will cause parent anxiety
  • Prefer genetics experts to explain
  • Not enough time to explain results
  • Lack of insurance reimbursement
  • Cost of genetic testing
  • Distance from genetics center
  • Lack of meaningful results
/ Pediatricians appreciate the benefits for a genetic evaluation of developmental delay but barriers must be addressed in order to make genetic evaluation more mainstream into primary care practice. / 2/2
Poppelaars et al., 2003;18 Quantitative survey; Examine how cystic fibrosis (CF) carrier screening be provided / 102GPs; 52% response rate; Netherlands /
  • Not enough knowledge about CF (n=18)
  • Limited interest in target population (n=15)
  • Possibility of developing the perfect child (n=14)
  • High cost of carrier test (n=24)
  • Costs of program for the practice (34%);
  • Lack of referral opportunities
  • Not enough time/high workload (82%)
  • Logistical supports needed for providing a CF 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%)
  • Carrier screening isn’t a GP task
  • Negative policy judgment (n=22)
/ GPs have positive attitudes towards CF screening but some systems obstacles need to be overcome. / 0/2
Poppelaars et al., 2004;38 Quantitative survey; Attitudes of PCPs towards preconceptional CF carrier screening / 102 GPs; 52% response rate;
Netherlands /
  • Fear CF screening will be the first step in developing a perfect child; Cf carrier test results in medicalization of pregnancy; against abortion; if they viewed the condition to be not severe, they did not want to do screening, religion
  • Put burden on people who do not want to know about it; carriers may feel less healthy, cause anxiety in patients
  • Afraid discrimination of CF carriers by insurance companies and social environment
  • Personal/professional conflict
  • Concern for patient confidentiality
/ The majority of GPs are supportive of CF carrier screening and nearly all are supportive of offering genetic services during preconception care. / 0/0
Aalfs et al., 2003;13 Quantitative survey; Referrals for genetic counseling during pregnancy / 59 GPs of pregnant women who had received genetic counseling; 87% response rate; UK /
  • Knowledge of clinical genetics limited
  • Lack of confidence in providing counseling
  • 29% of GPs not involved in genetics referral
/ Limited alertness and awareness exists among GPS about genetic risk in pregnancy and the role in appropriate timing of genetics referral. Knowledge or barriers did not explain a lack of alertness. Routine FH should be implemented in general practice. / 1/2
Morgan et al., 2004;17 Quantitative cross-sectional survey; Practice patterns for preconception and prenatal screening for CF / 632 Ob-Gyns, Fellows and Junior Fellows of American College of Obstetricians and Gynecologists (ACOG); 64% response rate; US /
  • Level of familiarity with genetics and CF (58.9% of physicians in general rated their confidence as more than a moderate concern)
  • Lack of confidence in ability to interpret of deal with a positive screening test (59.5%)
  • 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%)
/ There is a need for simplifying clinical guidelines for population-based genetic screening, assessment of implementation of these guidelines, and continued provider education in genetics / 1/2
Nagle et al., 2008;28 Qualitative focus groups; Informing women about prenatal screening tests for fetal abnormalities / 27 GPs; Response rate not reported; Victoria, Australia /
  • Providing pre-test probability that was meaningful and conveying a residual risk; communicating complex information about limitations of screening
  • Lack of confidence and skill in dealing with test information;
  • Staying current with information
  • Being the 'bearer of bad news’
  • Potential to do more harm than good
  • The implication that testing impacted society's view 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
/ The increasing availability and utilization of screening tests, in particular first trimester tests, has expanded GPs' role in facilitating women's informed decision-making. First trimester consultations should be increased in length of time to allow for complex information regarding genetic screening tests to be discussed. / 19/28
Genetic/Genomic Testing