Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing

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Abstract

Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs’ awareness of the role of genetics/genomics in health, knowledge about key concepts in genomic medicine, perception/attitudes towards direct-to-consumer (DTC) genetic testing, and their level of confidence/comfort in discussing testing with patients prior to and after undergoing DTC testing through the 23andMe Health + Ancestry Service. A total of 130 PCPs completed the study. Sixty-three percent were board-certified in family practice, 32% graduated between 1991 and 2000, and 88% had heard of 23andMe prior to the study. Seventy-two percent decided to participate in the study to gain a better understanding about testing. At baseline, 23% of respondents indicated comfort discussing genetics as a risk factor for common diseases, increasing to 59% after undergoing personal genetic testing (PGT) ( p < 0.01). In summary, we find that undergoing PGT augments physicians’ confidence, comfort, and interest in DTC testing.

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Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing.

Rachel L Dvoskin, J. Bollinger, Joel D Kaufman … (2012)

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.

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Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system.

M Weissman, G A Selkirk, Garry Anderson … (2013)

Physicians will play a large role in the delivery of genomic medicine, given the limited number of trained genetics professionals. The objective of this study was to assess physician preparedness for incorporating genomic testing (GT) and pharmacogenetic testing (PT) into practice by determining knowledge, experience, comfort level, and barriers, as well as their expectations for practice and educational needs. A 30-question survey was distributed to physicians spanning all disciplines within our healthcare system. Perceived knowledge was poor; 40%-72% reported "no to minimal knowledge" for all genomics topics. Recent graduates or those with no patients who had undergone GT or PT had lower comfort levels. Participating physicians anticipate usage to increase; however, most were uncertain when and how to incorporate genomics into practice. Physicians perceived lack of knowledge and time to keep updated as their greatest barriers to incorporating GT and PT into practice. Overall, physicians appear underprepared, perceiving they lack sufficient knowledge and confidence to incorporate GT and PT into practice. The majority of physicians expect their role in GT and PT to increase. The results underscore the importance of enhancing policies and initiatives to increase physician knowledge and comfort level.

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Attitudes and practices among internists concerning genetic testing.

M W Stark, Brian Chin, Paul Appelbaum … (2013)

Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8 %), followed by Breast/Ovarian Cancer (15.0 %). In the past 6 months, 65 % had counseled patients on genetic issues, 44 % had ordered genetic tests, 38.5 % had referred patients to a genetic counselor or geneticist, and 27.5 % had received ads from commercial labs for genetic testing. Only 4.5 % had tried to hide or disguise genetic information, and <2 % have had patients report genetic discrimination. Only 53.4 % knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7 %) and guidelines for genetic testing (87.1 %). Most felt needs for more training on when to order tests (79 %), and how to counsel patients (82 %), interpret results (77.3 %), and maintain privacy (80.6 %). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (p < .001), and if physicians had a geneticist/genetic counselor to whom to refer patients (p < .002), had referred patients to a geneticist/genetic counselor in the past 6 months, had more comfort counseling patients about testing (p < .019), counseled patients about genetics, larger practices (p < .032), fewer African-American patients (p < .027), and patients who had reported genetic discrimination (p < .044). In a multiple logistic regression, ordering a genetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests. These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education.

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Author and article information

Journal

Journal ID (nlm-ta): J Pers Med

Journal ID (iso-abbrev): J Pers Med

Journal ID (publisher-id): jpm

Title: Journal of Personalized Medicine

Publisher: MDPI

ISSN (Electronic): 2075-4426

Publication date (Electronic): 24 May 2019

Publication date Collection: June 2019

Volume: 9

Issue: 2

Electronic Location Identifier: 29

Affiliations

[1 ]Duke Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC 27708, USA; rachel.myers@ 123456duke.edu (R.A.M.); geoffrey.ginsburg@ 123456duke.edu (G.S.G.)

[2 ]23andMe, Inc., 899 W Evelyn Ave, Mountain View, CA 94041, USA; ekim@ 12345623andme.com

Author notes

[* ]Correspondence: Susanne.haga@ 123456duke.edu ; Tel.: +1-919-684-0325

Article

Publisher ID: jpm-09-00029

DOI: 10.3390/jpm9020029

PMC ID: 6617198

PubMed ID: 31137623

SO-VID: 7df4dbac-3315-4fe9-ab90-04f5494ab730

License:

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing

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Abstract

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Most cited references 31

Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing.

Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system.

Attitudes and practices among internists concerning genetic testing.

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