Skip to main content
PMC home page
NIHPA Author Manuscripts logoLink to NIHPA Author Manuscripts
. Author manuscript; available in PMC: 2019 May 7.
Published in final edited form as: Health Aff (Millwood). 2018 May;37(5):793–800. doi: 10.1377/hlthaff.2017.1548

Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases

Diane Hauser 1, Aniwaa Owusu Obeng 2, Kezhen Fei 3, Michelle A Ramos 4, Carol R Horowitz 5
PMCID: PMC6503526  NIHMSID: NIHMS970715  PMID: 29733703

Abstract

We surveyed 488 primary care providers in community and academic practices in New York City in the period 2014–16 about their views on genetic testing for chronic diseases. The majority of the providers, most of whom were current or recent physicians in training, had had formal genetics education and had positive views of the utility of genetic testing. However, they felt unprepared to work with patients at high risk for genetic conditions and were not confident about interpreting test results. Many were concerned that genetic testing might lead to insurance discrimination and lacked trust in companies that offer genetic tests. These findings point to some of the attitudes and knowledge gaps among the providers that should be considered in the clinical implementation of genomic medicine for chronic conditions. Enhanced training, guidelines, clinical tools, and awareness of patient protections might support the effective adoption of genomic medicine by primary care providers.

Translation of genomic discoveries into routine clinical care will expand with growing knowledge of genetic variants; their impact on various diseases and treatments; and the availability of high-throughput, lower-cost genomic technologies.1 Advances have led to genotype-directed clinical trials that have validated genomic medicine, clear recommendations by experts and professional associations, third-party reimbursement for increasing numbers of genetic tests,2,3 standardization of formats for returning genetic results in electronic health records (EHRs), and use of gene-guided clinical decision support tools.

Genetic testing has been the purview of specially trained genetic medicine physicians and counselors. As testing becomes more commonplace and affordable, more clinicians will be able to incorporate genetic test results into their diagnostic and therapeutic arsenals. This is particularly true for primary care providers, who are responsible for comprehensive assessments of their patients’ risks for common chronic diseases and choosing appropriate pharmacologic therapies. Genetic testing is increasingly relevant for these key aspects of primary care practice.4,5 Widespread adoption of genetic medicine by these providers will depend, in part, on clinicians’ buying in to testing and their ability to interpret and act on relevant genetic information.6,7

Studies to date have found that primary care providers report limited knowledge of and confidence in interpreting genetic test results and explaining them to patients.8–12 Most studies have focused on the providers’ general understanding of and preparedness for implementing genetic testing. Little is known about their specific preparedness to use genetic testing for common chronic disease risk, diagnosis, and therapy.13–17 Communicating and acting on genetic risk for chronic disease is likely to be more complicated than pharmacogenomic testing to guide therapy, as it might require nuanced discussions with patients about disease risks they might not be aware of, lifestyle changes, and increased disease surveillance.

The implementation of chronic disease genetics is further complicated by increased disease-related morbidity and mortality among racial and ethnic minority groups.18,19 There are few data on primary care providers’ perceptions about genetic testing in diverse populations or their views about identifying and addressing variants more common among certain ancestral subgroups.20–22 The promise and peril of genetic testing in diverse populations constitute an emerging area of exploration, on one hand making a clear distinction between race (a social construct) and ancestry (which has biological elements), and on the other hand raising genuine concerns that genetic testing could deepen racial stereotypes and stigmas.23–26

Our community-clinical-academic team developed a randomized clinical trial called Genetic Testing to Understand Renal Disease Disparities to test adults of African ancestry for high-risk APOL1 renal disease variants, return test results to patients and their primary care providers, and assess the impact of this process on clinical care and patient outcomes.27,28 The presence of two APOL1 risk variants, nearly exclusively found in people of African ancestry, is associated with a tenfold increased risk for hypertension-related kidney failure.29

Immediately before enrolling their patients in the trial, we surveyed primary care providers to assess their attitudes and beliefs, generally about genetic testing and specifically for common chronic diseases. Our objective was to generate insights for the sustainable adoption and large-scale dissemination of genomic medicine, both broadly and for diverse clinical settings and ancestral populations.We hypothesized that primary care providers—even if more recently trained—would feel unprepared to incorporate genetic testing for common chronic diseases in patient care and that they would have concerns about links between health disparities and genomics.

Study Data And Methods

We developed a forty-five-item, five-minute survey based on medical literature; the results of open-ended interviews with fifteen primary care providers; and discussions with the study’s genomics board comprising patients, community advocates, clinicians, and researchers.30 The survey asked providers about a number of their perceptions regarding genomic medicine, including associations between ancestry and genetic risk for common diseases, perceived knowledge and expertise about genetics, the clinical utility of genomic medicine, and their own genetics education.28

During regularly scheduled meetings in the period 2014–16, we asked primary care providers at four academic and six community-based general internal medicine practices (primarily staffed by internists) and five federally qualified health centers (primarily staffed by family physicians) in New York City to consider completing the survey as part of the process of educating them about the Genetic Testing to Understand Renal Disease Disparities study and obtaining their consent. We invited those with missing paper surveys to complete them online, and we provided no incentives. The providers included general internists, family physicians, nurse practitioners, physician assistants, and residents. Some of the practices chiefly served patients of African ancestry, while others chiefly served patients of European ancestry. Some primarily served low-income patients with public insurance, and others primarily served patients with private insurance. The Institutional Review Boards at all participating sites approved the project.

DATA ANALYSIS

The study team used descriptive analyses for primary care providers’ demographic characteristics, means or standard deviations for continuous variables, and frequencies or proportions for categorical variables.We compared responses between subgroups of providers by clinical setting (academic or community) and by race/ethnicity, medical training status, and years in practice, using chi-square tests. We assessed differences in views using multivariate logistic regression, adjusting for testing experience and clinical setting. Our analyses were conducted using SAS, version 9.4. Significance was set at the 0.05 level. We combined black and Hispanic primary care providers in analyses of racial/ethnic subgroups because of small sample sizes for these respondents, along with similar responses.

LIMITATIONS

This study had several limitations. First, the survey was conducted in one large city with a primary care provider population that consisted predominantly of physicians in training or recent medical graduates, and therefore the results might not be broadly generalizable. Second, the survey was a pre-implementation study: Primary care providers’ attitudes could change after their patients were tested.

However, these limitations should be balanced by the study’s strengths, which included surveying nearly 500 diverse providers from a variety of settings, having a high response rate, and asking providers to respond to testing that their patients were about to receive rather than to a hypothetical scenario.

Study Results

Of the 547 primary care providers invited to participate, 488 (89 percent) completed the survey. Most had been in practice for less than five years, were female, were medical residents, and practiced in an academic setting (exhibit 1). Half self-identified as white. Nearly all considered patient care to be their primary job.

EXHIBIT 1.

Demographic characteristics of primary care providers who completed the genetic testing knowledge and viewpoint survey

Characteristic Number Percent
Female 290 64
RACE/ETHNICITY
White 252 52
Black 34 7
Hispanic 34 7
Asian or South Asian 139 28
Other 29 6
POSITION
Physician (attending) or fellow 147 31
Nurse practitioner 21 4
Physician (resident) 313 65
YEARS IN PRACTICEa
0–5 371 77
>5–10 35 7
>10–15 18 4
>15–20 21 4
>20 34 7
CLINICAL SETTING
Academic 309 64
Community 175 36
SPEND MAJORITY OF TIME ON PATIENT CARE
Yes 433 91
Open in a new tab

SOURCE Authors’ analysis of survey data from 2014–16. NOTES N = 488. The mean age of the providers was 33.3 years, and the standard deviation was 9.5 years.

a

Percentages do not add up to 100 because of rounding.

VIEWS ON GENETIC TESTING

Most of the providers had a positive view of genetic testing for common chronic diseases: 74 percent agreed that it is clinically useful, and 70 percent agreed that it will improve clinical outcomes within the next five years (exhibit 2). Just over half believed that their patients would be interested in genetic testing for chronic diseases. One-third believed that testing would motivate their patients to adopt healthy behaviors.

EXHIBIT 2.

Primary care providers’ views about and perceptions of genetic testing

View or perception Percent
AGREED OR STRONGLY AGREED THAT:
Genetic testing for common disease risk is clinically useful 74
Within five years, genetic medicine will improve clinical outcomes 70
My patients would be interested in genetic testing for common diseases 53
Genetic testing would motivate my patients to adopt healthy behaviors 34
Genetic variation provides clues to causes of racial/ethnic disparities 81
AGREED OR STRONGLY AGREED THAT THEY:
Are knowledgeable about the genetic basis of common diseases 40
Are ready to take care of patients who had genetic testing for common diseases 25
Are prepared to work with patients at high risk for genetic conditions 28
Are confident interpreting genetic test results 14
Have had formal genetics education 78
Are concerned that genetic testing will lead to insurance discrimination 53
Trust companies that offer genetic testing 24
Consider race/ancestry when deciding which medications to prescribe 75
Open in a new tab

SOURCE Authors’ analysis of survey data from 2014–16. NOTE There were 488 providers.

PREPARATION FOR GENETIC TESTING

Most primary care providers had had some formal genetics education (exhibit 2). Yet only one-third had ordered any genetic test, returned a genetic test result to any patient, or referred a patient for genetic counseling in the past 12 months (exhibit 3). Surprisingly, past testing experience was not associated with provider attitudes toward or confidence in interpreting genetic testing results. Despite their general genetic training and experience, only 40 percent of primary care providers felt knowledgeable about the genetic basis for common diseases. And few felt prepared for working with patients who have had genetic testing for common diseases (25 percent) and those at high risk for genetic conditions (28 percent). Only 14 percent felt confident about interpreting test results.

EXHIBIT 3.

Variations in primary care providers’ perceptions of genetic testing, by race/ethnicity, clinical setting, and position

Percent of providers
Setting
 Race/ethnicity
 Position
All (N = 488) Community (n = 175) Academic (n = 309) White (n = 252) Black or Hispanic (n = 68) Asian (n = 139) Resident (n = 313) Attending, fellow, or NP (n = 168)
AGREE OR STRONGLY AGREE THAT:
Genetic testing will motivate my patients to adopt healthy behaviors 34 29 37 27** 45** 43** 32 37
Discussing genetic risk will delay onset of disease 46 46 47 38** 68** 53** 45 48
Testing will improve patient outcomes 70 62** 75** 69 75 73 75** 62**
Testing may lead to insurance discrimination 53 61** 49** 50 55 60 52 57
In five years insurance will not cover cost of genetic testing 80 82 80 83 72 79 79 83
Telling a patient they have genetic risk for chronic disease may cause excessive stress 59 65** 55** 52** 65** 64** 54** 68**
Don’t trust companies offering testing 76 83** 72** 76 72 76 74 89
Race/ancestry can identify patients who benefit from disease screening 81 74** 85** 85 76 80 83 79
Genetic variations provide clues to causes of racial/ethnic disparities 81 74** 85** 84 79 81 82 81
IN THE PAST 12 MONTHS:
Ordered a genetic test for any patient 36 56** 24** 35 39 35 28** 50**
Returned genetic test results to any patient 30 52** 18** 30 37 27 22** 46**
Referred a patient for genetic counseling 38 63** 23** 38 41 37 23** 66**
Open in a new tab

SOURCE Authors’analysis of survey data from 2014–16. NOTES Categorical sample sizes do not equal the total sample size because of missing values. Significance refers to differences within categories. NP is nurse practitioner.

**

p < 0.05

CONCERNS ABOUT GENETIC TESTING

One in two primary care providers were concerned that genetic testing would lead to insurance discrimination (exhibit 2). Three out of four mistrusted companies that offer genetic testing, four out of five thought that insurance wouldn’t cover the cost of genetic testing in five years, and over half believed that telling patients their genetic risk for chronic disease could cause them excessive stress (exhibit 3).

RACE, ANCESTRY, DISPARITIES AND GENETICS

Eighty-one percent of primary care providers agreed that genetic variants provide clues about causes of racial and ethnic disparities and that race or ancestry can identify patients who would benefit from genetic screening for diseases (exhibit 3). Seventy-five percent considered patients’ race or ancestry when making decisions about which medications to prescribe (exhibit 2).

RESOURCES THAT PRIMARY CARE PROVIDERS WANT

Over 80 percent of the providers wanted an easy way to order genetic tests, more information on patient management when tests were positive, and handouts to give their patients on genetics and genetic testing in general, as well as specific information on positive tests (data not shown). Nearly 70 percent wanted information on how to talk with patients about genetics and genetic testing.

DIFFERENCES IN PRIMARY CARE PROVIDER SUBGROUPS

We found no significant differences between primary care provider subgroups (those in academic versus community clinical settings, whites versus nonwhites, and by number of years in practice) in their self-reported preparedness to use genomics in practice and views on genetics, or in the resources they wanted. However, providers in the black or Hispanic group (odds ratio: 2.31) and Asian providers (OR: 2.04) were more likely than whites to agree that genetic testing would motivate patients to adopt healthy behaviors (p = 0.001, OR adjusted to test experience) (exhibit 3 and online appendix exhibit A).31 There were similar differences between white and nonwhite providers about whether discussing genetic risk for kidney disease with patients would delay or prevent its onset (black or Hispanic OR: 3.49, Asian OR: 1.78; p < 0.05; OR adjusted for ordering test experience and clinical setting) (exhibit 3 and appendix exhibit B).31 And nonwhite providers were more likely than whites to agree that providing genetic risk information would cause patients excessive worry or stress.

Academic clinicians (mainly internists) were less likely than community clinicians (mainly family physicians) to have ordered a genetic test in the past 12 months (24 percent versus 56 percent), returned results to a patient (18 percent versus 52 percent), or referred a patient for genetic counseling (23 percent versus 63 percent) (exhibit 3). Academic clinicians were significantly more likely than community clinicians to believe that genetics, in part, explains health disparities (85 percent versus 74 percent). Community clinicians were more likely than academics to agree that risk information would cause excessive worry (65 percent versus 55 percent).

Compared to primary care providers with five or more years in practice, those with less time in practice were more likely to think that genetic medicine would improve clinical outcomes (75 percent versus 62 percent; p = 0.02) and less likely to be concerned that sharing genetic risk information would cause patients excessive stress (54 percent versus 68 percent; p = 0.002) (data not shown). Similarly, compared to attending physicians, fellows, nurse practitioners, and physician assistants, residents were more likely to think that genetic medicine would improve outcomes (73 percent versus 63 percent; p = 0.003) and less likely to be concerned that risk information would cause patients excessive stress (52 percent versus 68 percent; p = 0.003).

Discussion

The expansion of genomic medicine into primary care will depend on the preparedness of clinicians to incorporate into practice the information gained, particularly as findings become more relevant to patients from diverse backgrounds and those with or at risk for common chronic diseases. Our survey indicated that most primary care providers have had some formal genetics education, have positive views of genetic testing’s utility, and think that their patients would be interested in having testing but feel unprepared to work with patients at high risk for genetic conditions or who have had genetic testing. Primary care providers’ belief that genetic testing would motivate patients and prevent disease was countered by concerns about patients’ negative reactions to their results and insurance discrimination (despite little evidence that genetic discrimination occurs), as well as mistrust of companies that offer testing.32

The differences in experience and perceptions that we identified among subgroups of primary care providers merit further exploration. Providers in community sites had more experience ordering testing and returning results, likely because nearly all were family physicians who ordered prenatal tests, whereas academic providers were nearly all internists who did not order these tests.

It is interesting that most primary care providers linked genetics and disparities, and that nonwhite providers were more optimistic than whites that their patients would change their behaviors and benefit from testing. In one earlier study, black physicians more commonly indicated that patient race is a central factor for choosing among treatment options and understanding disease risk;20 this was not borne out in our larger quantitative study. Another study found few differences between blacks and whites in terms of attitudes, but it did find that physicians in general were reluctant to connect genetics, race, and disease and believed that genetics had a limited role in explaining racial differences in health.33 Our more recent study showed less reluctance and more positive views of the role of genetics in medicine, even in a diverse primary care provider population with a very high response rate. More research should be conducted to corroborate our finding that nonwhite physicians were more optimistic than whites about the impact of genetic testing on patient behaviors and outcomes. Genetic Testing to Understand Renal Disease Disparities and other implementation trials will determine whether this optimism is merited.

Policy Implications

Even among primary care providers who stated that they had had formal genomics education and who had recently been trained (in an era characterized by an explosion in genomic discoveries and technology), perceived preparedness was low. Interest in, enthusiasm for, and experience with genetic testing were not associated with confidence in working with patients who had genetic testing for common chronic conditions. Therefore, improving primary care providers’ skills will require more than additional training and experience. It will likely also require developing and deploying systems to facilitate testing and the returning of results, as well as to provide information for providers and patients at the point of care. Most of the providers we surveyed wanted to use the EHR to order genetic tests and obtain genetics-related information for themselves and their patients.27 Emerging systems are testing clinical decision supports in EHRs to deliver actionable genetic information to primary care providers,34 which could provide support for providers at all levels of genetics education and experience.

Professional societies are also developing guidelines to ensure the use of appropriate genetic testing, educate their members,35 and improve providers’ competency in genomic medicine.36,37 These resources can and should be usable for primary care providers.While the factors involved in preparing physicians for the integration of genomics into practice are complex, the introduction of other medical innovations has raised and overcome similar challenges, and promoting “genomic exceptionalism” by limiting its use to specialists may be unwise.38

Despite having positive views about the utility of genetic testing, the clinicians in our study doubted that testing would motivate patients to adopt healthy behaviors. They might have been drawing on their experience and evidence from meta-analyses of risk-informed behavior change that found little evidence that disclosure of genetic risks catalyzes health-related behavior change.39–41 Risk information in these studies was generally not coupled with support for behavior change, which could have limited its effectiveness. The optimal use of genetic information related to common chronic disease risk will likely need to draw on evidence-based methods of promoting or facilitating behavior change and providing tools in EHRs for primary care providers to help their patients.

It will also be important to address providers’ concerns, such as about insurance discrimination resulting from genetic testing. While there are legal protections in place, notably the Genetic Information Nondiscrimination Act (GINA) of 2008, clinicians and patients are not sufficiently aware of these provisions or their benefits and limitations.42 Greater understanding of patient protections should be part of primary care providers’ education, especially as the legal landscape around genetics evolves.43 Providers reported a lack of preparedness for genetic medicine, and mixed experiences with direct-to-consumer testing might have played a role in their perceptions. The impact of genetic testing on patients’ insurance coverage, costs, and access to care must be carefully monitored.44

Our study also explored associations between race/ethnicity and genetics—an important but understudied field.30 We found that despite concerns about linking race, ancestry, and genetics, primary care providers of all backgrounds believed that health disparities have a genetic basis.45,46 It will be important to determine how to use genetic discoveries for the benefit of all patients and to address the significant underrepresentation of minority populations both in genetics research47,48 and as partners in the development and implementation of translational research, policy, and practice.49 Fortunately, research networks are beginning to close research gaps, reduce racial and ethnic disparities in the use of currently available tests for genetic disease risks, and use findings to improve outcomes.50

Conclusion

Primary care providers are key stakeholders in the adoption of genetic medicine.51 A majority of the providers we surveyed believed in the potential clinical benefits of genetic testing for common chronic diseases but felt that they lacked the knowledge and skill to use genetics in the care of their patients. Efforts to expand genetic testing should help identify common, actionable variants that increase chronic disease risk and should enhance primary care provider training and the use of EHRs to help clinicians act on the increasing volumes of genetic information they will encounter. Further studies of the impact of such strategies and initiatives to ensure that community practices and low-income and minority populations have access to new discoveries from which they can benefit will likely increase the successful adoption of genomic medicine into practice.

Supplementary Material

supplemental

It will be important to address providers’ concerns, such as about insurance discrimination resulting from genetic testing.

Acknowledgments

This study was supported by the National Human Genome Research Institute (NHGRI) (Grant Nos. 5U01HG007278 and U01HG006380) and the National Center for Advancing Translational Sciences (NCATS) (Grant No. UL1TR000067). Neither the NHGRI nor the NCATS was involved in the study design, collection, analysis or interpretation of data, writing of this article, or decision to submit it for publication. The authors thank the genomics board; the Genetic Testing to Understand Renal Disease Disparities team of academic, community, and clinical partners as well as the study coordinators and staff members at the study sites; and their partners in the Implementing Genomics in Practice (IGNITE) Network for their valuable contributions to this project.

Contributor Information

Diane Hauser, Institute for Family Health and in the Center for Health Equity and Community-Engaged Research, Icahn School of Medicine at Mount Sinai, both in New York City..

Aniwaa Owusu Obeng, Charles Bronfman Institute for Personalized Medicine and in the Center for Health Equity and Community-Engaged Research, Icahn School of Medicine at Mount Sinai, and the clinical pharmacogenomics coordinator in the Pharmacy Department at Mount Sinai Hospital..

Kezhen Fei, Department of Population Health Science and Policy and in the Center for Health Equity and Community- Engaged Research, Icahn School of Medicine at Mount Sinai..

Michelle A. Ramos, Department of Population Health Science and Policy and in the Center for Health Equity and Community-Engaged Research, Icahn School of Medicine at Mount Sinai..

Carol R. Horowitz, Department of Population Health Science and Policy and in the Center for Health Equity and Community-Engaged Research, Icahn School of Medicine at Mount Sinai..

NOTES

  • 1.McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5(189): 189sr4. [DOI] [PubMed] [Google Scholar]
  • 2.Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, et al. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. Clin Pharmacol Ther. 2013; 94(2):207–10. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 3.Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013; 15(4):258–67. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 4.Mikat-Stevens NA, Larson IA, Tarini BA. Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature. Genet Med. 2015; 17(3):169–76. [DOI] [PubMed] [Google Scholar]
  • 5.Scott J, Trotter T. Primary care and genetics and genomics. Pediatrics. 2013;132(Suppl 3):S231–7. [DOI] [PubMed] [Google Scholar]
  • 6.Peterson JF, Field JR, Shi Y, Schildcrout JS, Denny JC, McGregor TL, et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharmacogenomics J. 2016;16(4):393–8. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 7.Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Kitchner T, Peterson JF, et al. Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience. Pharmacogenomics. 2017;18(10) :1013–25. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 8.Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, et al. Attitudes and practices among internists concerning genetic testing. J Genet Couns. 2013;22(1): 90–100. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 9.Puryear L, Downs N, Nevedal A, Lewis ET, Ormond KE, Bregendahl M, et al. Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach. J Community Genet. 2017. December 27 [Epub ahead of print]. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 10.Saul RA, Trotter T, Sease K, Tarini B. Survey of family history taking and genetic testing in pediatric practice. J Community Genet. 2017;8(2): 109–15. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 11.Houwink EJF, van Luijk SJ, Henneman L, van der Vleuten C, Dinant GJ, Cornel MC. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract. 2011;12:5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 12.Stanek EJ, Sanders CL, Taber KA, Khalid M, Patel A, Verbrugge RR, et al. Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin Pharmacol Ther. 2012;91(3):450–8. [DOI] [PubMed] [Google Scholar]
  • 13.Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, et al. The genetic architecture of type 2 diabetes. Nature. 2016;536(7614):41–7. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 14.Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, et al. The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet. 2015;11(4):e1005165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 15.Fernández-Sanlés A, Sayols-Baixeras S, Subirana I, Degano IR, Elosua R. Association between DNA methylation and coronary heart disease or other atherosclerotic events: a systematic review. Atherosclerosis. 2017;263:325–33. [DOI] [PubMed] [Google Scholar]
  • 16.Scott RA, Scott LJ, Magi R, Marullo L, Gaulton KJ, Kaakinen M, et al. An expanded genome-wide association study of type 2 diabetes in Europeans. Diabetes. 2017;66(11): 2888–902. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 17.Chen TK, Appel LJ, Grams ME, Tin A, Choi MJ, Lipkowitz MS, et al. APOL1 risk variants and cardiovascular disease: results from the AASK (African American Study of Kidney Disease and Hypertension). Arterioscler Thromb Vasc Biol. 2017;37(9):1765–9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 18.Saydah S, Imperatore G, Cheng Y, Geiss LS, Albright A. Disparities in diabetes deaths among children and adolescents—United States, 2000–2014. MMWR Morb Mortal Wkly Rep. 2017;66(19):502–5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 19.Colen CG, Ramey DM, Cooksey EC, Williams DR. Racial disparities in health among nonpoor African Americans and Hispanics: the role of acute and chronic discrimination. Soc Sci Med. 2018;199:167–80. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 20.Snipes SA, Sellers SL, Tafawa AO, Cooper LA, Fields JC, Bonham VL. Is race medically relevant? A qualitative study of physicians’ attitudes about the role of race in treatment decision-making. BMC Health Serv Res. 2011;11:183. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 21.Cunningham BA, Bonham VL, Sellers SL, Yeh HC, Cooper LA. Physicians’ anxiety due to uncertainty and use of race in medical decision making. Med Care. 2014; 52(8):728–33. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 22.Sellers SL, Moss ME, Calzone K, Abdallah KE, Jenkins JF, Bonham VL. Nurses’ use of race in clinical decision making. J Nurs Scholarsh. 2016;48(6):577–86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 23.Laskey SL, Williams J, Pierre-Louis J, O’Riordan M, Matthews A, Robin NH. Attitudes of African American premedical students toward genetic testing and screening. Genet Med. 2003;5(1):49–54. [DOI] [PubMed] [Google Scholar]
  • 24.Allford A, Qureshi N, Barwell J, Lewis C, Kai J. What hinders minority ethnic access to cancer genetics services and what may help? Eur J Hum Genet. 2014;22(7):866–74. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 25.Fujimura JH, Rajagopalan R. Different differences: the use of “genetic ancestry” versus race in biomedical human genetic research. Soc Stud Sci. 2011;41(1):5–30. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 26.Smith CE, Fullerton SM, Dookeran KA, Hampel H, Tin A, Maruthur NM, et al. Using genetic technologies to reduce, rather than widen, health disparities. Health Aff (Millwood). 2016;35(8):1367–73. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 27.Horowitz CR, Abul-Husn NS, Ellis S, Ramos MA, Negron R, Suprun M, et al. Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry. Contemp Clin Trials. 2016;47:101–8. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 28.Horowitz CR, Ferryman K, Negron R, Sabin T, Rodriguez M, Zinberg RF, et al. Race, genomics and chronic disease: what patients with African ancestry have to say. J Health Care Poor Underserved. 2017;28(1): 248–60. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 29.Parsa A, Kao WH, Xie D, Astor BC, Li M, Hsu CY, et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183–96. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 30.Kaplan B, Caddle-Steele C, Chisholm G, Esmond WA, Ferryman K, Gertner M, et al. A culture of understanding: reflections and suggestions from a genomics research community board. Prog Community Health Partnersh. 2017;11(2):161–5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 31.To access the appendix, click on the Details tab of the article online.
  • 32.Green RC, Lautenbach D, McGuire AL. GINA, genetic discrimination, and genomic medicine. N Engl J Med. 2015;372(5):397–9. [DOI] [PubMed] [Google Scholar]
  • 33.Bonham VL, Sellers SL, Gallagher TH, Frank D, Odunlami AO, Price EG, et al. Physicians’ attitudes toward race, genetics, and clinical medicine. Genet Med. 2009;11(4): 279–86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 34.Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, et al. Practical considerations in genomic decision support: the eMERGE experience. J Pathol Inform. 2015;6:50. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 35.Manolio TA, Murray MF. The growing role of professional societies in educating clinicians in genomics. Genet Med. 2014;16(8):571–2. [DOI] [PubMed] [Google Scholar]
  • 36.Korf BR, Berry AB, Limson M, Marian AJ, Murray MF, O’Rourke PP, et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med. 2014;16(11): 804–9. [DOI] [PubMed] [Google Scholar]
  • 37.National Human Genome Research Institute. Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC) [Internet]. Bethesda (MD): NHGRI; [last updated 2018 Jan 23; cited 2018 Mar 30]. Available from: https://www.genome.gov/27554614/intersociety-coordinating-committee-for-practitioner-education-in-genomics-iscc/ [Google Scholar]
  • 38.Vassy JL, Korf BR, Green RC. How to know when physicians are ready for genomic medicine. Sci Transl Med. 2015;7(287):287fs19. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 39.Stewart KFJ, Wesselius A, Schreurs MAC, Schols AMWJ, Zeegers MP. Behavioural changes, sharing behavior, and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis. J Community Genet. 2018;9(1):1–18. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 40.French DP, Cameron E, Benton JS, Deaton C, Harvie M. Can communicating personalised disease risk promote healthy behaviour change? A systematic review of systematic reviews. Ann Behav Med. 2017; 51(5):718–29. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 41.Hollands GJ, French DP, Griffin SJ, Prevost AT, Sutton S, King S, et al. The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis. BMJ. 2016;352:i1102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 42.Laedtke AL, O’Neill SM, Rubinstein WS, Vogel KJ. Family physicians’ awareness and knowledge of the Genetic Information Non-Discrimination Act (GINA). J Genet Couns. 2012;21(2):345–52. [DOI] [PubMed] [Google Scholar]
  • 43.Equal Employment Opportunity Commission. Genetic Information Nondiscrimination Act. Federal Register [serial on the Internet]. 2016. May 17 [cited 2018 Mar 30]. Available from: https://www.federalregister.gov/documents/2016/05/17/2016-11557/genetic-information-nondiscrimination-act
  • 44.Van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT 4th, Roberts JS, Green RC. Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann Intern Med. 2016; 164(8):513–22. [DOI] [PubMed] [Google Scholar]
  • 45.Barr DA. The practitioner’s dilemma: can we use a patient’s race to predict genetics, ancestry, and the expected outcomes of treatment? Ann Intern Med. 2005;143(11):809–15. [DOI] [PubMed] [Google Scholar]
  • 46.Collins FS. What we do and don’t know about “race,” “ethnicity,” genetics, and health at the dawn of the genome era. Nat Genet. 2004; 36(11, Suppl):S13–5. [DOI] [PubMed] [Google Scholar]
  • 47.Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016; 538(7624):161–4. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 48.Haga SB. Impact of limited population diversity of genome-wide association studies. Genet Med. 2010; 12(2):81–4. [DOI] [PubMed] [Google Scholar]
  • 49.Mathew SS, Barwell J, Khan N, Lynch E, Parker M, Qureshi N. Inclusion of diverse populations in genomic research and health services: Genomix workshop report. J Community Genet. 2017;8(4): 267–73. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 50.Dellefave-Castillo LM, Puckelwartz MJ, McNally EM. Reducing racial/ ethnic disparities in cardiovascular genetic testing. JAMA Cardiol. 2018. February 28 [Epub ahead of print]. [DOI] [PubMed] [Google Scholar]
  • 51.Hartzler A, McCarty CA, Rasmussen LV, Williams MS, Brilliant M, Bowton EA, et al. Stakeholder engagement: a key component of integrating genomic information into electronic health records. Genet Med. 2013;15(10):792–801. [DOI] [PMC free article] [PubMed] [Google Scholar]

Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Supplementary Materials

supplemental
NIHMS970715-supplement-supplemental.pdf (365.2KB, pdf)

RESOURCES