Abstract
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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References
Bellcross, C. A., Kolor, K., Goddard, K. A. B., Coates, R. J., Reyes, M., & Khoury, M. J. (2011). Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. American Journal of Preventive Medicine, 40(1), 61–66.
Chase, G. A., Geller, G., Havstad, S. L., Holtzman, N. A., & Bassett, S. S. (2002). Physicians’ propensity to offer genetic testing for Alzheimer’s Disease: results from a survey. Genetic Medicine, 4(4), 297–303.
EGAPP Working Group. (2011). EGAPP Working Group Recommendations. https://doi.org/www.egappreviews.org/recommendations/index.htm. Accessed 12 January 2012.
Escher, M., & Sappino, A. P. (2000). Primary care physicians’ knowledge and attitudes toward genetic testing of breast-ovarian cancer predisposition. Annals of Oncology, 11(9), 1131–1135.
Fatkin, D., & CSANZ Cardiovascular Genetics Working Group. (2007). Guidelines for the diagnosis and management of familial dilated cardiomyopathy. Heart, Lung and Circulation, 16(1), 19–21.
Feero, W. G., & Green, E. D. (2011). Genomics education for health care professionals in the 21st century. Journal of the American Medical Association, 306(9), 989–990.
Finn, C. T., Wilcox, M. A., Korf, B. R., Blacker, D., Racette, S. R., Sklar, P., & Smoller, J. W. (2005). Psychiatric genetics: a survey of psychiatrists’ knowledge, opinions, and practice patterns. Journal of Clinical Psychiatry, 66(7), 821–830.
Forman, A. D., & Hall, M. J. (2009). Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer. The Breast Journal, 15(Suppl. 1), S56–62.
Freedman, A. N., Wideroff, L., Olson, L., Davis, W., Klabunde, C., Srinath, K. P., et al. (2003). US physicians’ attitudes toward genetic testing for cancer susceptibility. American Journal of Medical Genetics, 120A(1), 63–71.
Goldman, J. S., Hahn, S. E., Catania, J. W., LaRusse-Eckert, S., Butson, M. B., Rumbaugh, M., et al. (2011). Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine, 13(6), 597–605.
Gollob, M. H., Blier, L., Brugada, R., Champagne, J., Chauhan, V., Connors, S., et al. (2011). Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Canadian Journal of Cardiology, 27(2), 232–245.
Grant, R. W., Hivert, M., Pandiscio, J. C., Florez, J. C., Nathan, D. M., & Meigs, J. B. (2009). The clinical application of genetic testing in type 2 diabetes: a patient and physician survey. Diabetologia, 52(11), 2299–2305.
Haga, S. B., Carrig, M. M., O’Daniel, J. M., Orlando, L. A., Killeya-Jones, L. A., Ginsburg, G. S., & Cho, A. (2011). Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling. Journal of General Internal Medicine, 26(8), 834–840.
Hall, M. A., & Rich, S. S. (2000). Laws restricting health insurers’ use of genetic information: Impact on genetic discrimination. American Journal of Human Genetics, 66(1), 293–307.
Hershberger, R. E., Lindenfeld, J., Mestroni, L., Seidman, C. E., Taylor, M. R., Towbin, J. A., & Heart Failure Society of America. (2009). Genetic evaluation of cardiomyopathy—A Heart Failure Society of America practice guideline. Journal of Cardiac Failure, 15(2), 83–97.
Klitzman, R. (2009). The impact of social contexts in testing for Alpha-1 antitrypsin deficiency: the roles of physicians and others. Genetic Testing and Molecular Biomarkers, 13(2), 269–276.
Klitzman, R. (2010). Views of discrimination among individuals confronting genetic disease. Journal of Genetic Counseling, 19(1), 68–83.
Klitzman, R., Thorne, D., Williamson, J., & Marder, K. (2007). The roles of family members, health care workers and others in decision-making processes about genetic testing among individuals at risk for Huntington’s disease. Genetics in Medicine, 9(6), 358–371.
Lambert, E. M., & Holboe, E. S. (2005). The relationship between specialty choice and gender of U.S. medical students, 1990–2003. Academic Medicine, 80(9), 797–802.
Lapham, E. V., Kozma, C., & Weiss, J. O. (1996). Genetic discrimination: perspectives of consumers. Science, 274(5287), 621–624.
Lowstuter, K. J., Sand, S., Blazer, K. R., MacDonald, D. J., Banks, K. C., Lee, C. A., et al. (2008). Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians. Genetics in Medicine, 10(9), 691–698.
Menasha, J. D., Schechter, C., & Willner, J. (2000). Genetic testing: a physician’s perspective. Mount Sinai Journal of Medicine, 67(2), 144–151. 144.
Miller, F. A., Carroll, J. C., Wilson, B. J., Bytautas, J. P., Allanson, J., Cappelli, M., et al. (2010). The primary care physician role in cancer genetics: a qualitative study of patient experience. Family Practice, 27(5), 563–569.
Myers, M. F., & Jorgensen, C. (2005). Direct-to-consumer marketing campaign: Genetic testing for susceptibility to breast and ovarian cancer. From: Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention. (2005). Genomics and Population Health 2005. Atlanta, GA.
Nowlan, W. J. (2002). A rational view of insurance and genetic discrimination. Science, 297(5579), 195–196.
Nowlan, W. J. (2003). A scarlet letter or a red herring? Nature, 421(6921), 313.
Plon, S. E., Cooper, P. H., Parks, B., Dhar, S., Kelly, P. A., Weinberg, A. D., et al. (2011). Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genetics in Medicine, 13(2), 148–154.
Prochniak, C. F., Martin, L. J., Miller, E. M., & Knapke, S. C. (2011). Barriers to and motivations for physician referral of patients to cancer genetics clinics. Journal of Genetic Counseling, [Epub ahead of print], DOI https://doi.org/10.1007/s10897-011-9401-x.
Runy, L. A. (2009). Physician Snapshot: A current and future look at physician demographics in America. Hospital and Health Networks. https://doi.org/www.hhnmag.com/hhnmag_app/jsp/articledisplay.jsp?dcrpath=HHNMAG/Article/data/08AUG2009/0908HHN_FEA_Gatefold&domain=HHNMAG. Accessed 1 February 2012.
Shields, A. E., Burke, W., & Levy, D. E. (2008). Differential use of available genetic tests among primary care physicians in the United States: Results of a national survey. Genetics in Medicine, 10(6), 404–414.
Sifri, R., Myers, R., Hyslop, T., Turner, B., Cocroft, J., Rothermel, T., et al. (2003). Use of cancer susceptibility testing among primary care physicians. Clinical Genetics, 64, 355–360.
Stanek, E. J., Sanders, C. L., Teagarden, J. R., Agatep, B. C., Johansen, K. A. et al. (2009). National Pharmacogenomics physician survey: Who are the physicians adopting pharmacogenomics and how does knowledge impact adoption? Presented at the 59th Annual American Society of Human Genetics (ASHG) Meeting. https://doi.org/www.medcoresearchinstitute.com/docs/ASHG_Clinical-Brief.pdf. Accessed 13 September 2011.
Susswein, L. R., Skrzynia, C., Lange, L. A., Booker, J. K., Graham, M. L., III, & Evans, J. P. (2008). Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. Journal of Clinical Oncology, 26(1), 32–36.
Taylor, S., Treloar, S., Barlow-Stewart, K., Otlowski, M., & Stranger, M. (2007). Investigating genetic discrimination in Australia: perceptions and experiences of clinical genetics service clients regarding coercion to test, insurance and employment. Australian Journal of Emerging Technologies and Society, 5(2), 63–83.
Taylor, S., Treloar, S., Barlow-Stewart, K., Stranger, M., & Otlowski, M. (2008). Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients. Clinical Genetics, 74(1), 20–30.
Thompson, H. S., Valdimarsdottir, H. B., Jandorf, L., & Redd, W. (2003). Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women. Patient Education and Counseling, 51(3), 217–227.
Trivers, K. F., Baldwin, L. M., Miller, J. W., Matthews, B., Andrilla, C. H. A., Lishner, D. M., & Goff, B. A. (2011). Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians. Cancer, 117(23), 5334–5343.
Tu, H. T. & O’Malley, A. S. (2007). Exodus of male physicians from primary care drives shift to specialty practice. Tracking Report No. 17. https://doi.org/hschange.org/CONTENT/934/#ib2 Accessed 31 Jan 2012.
Van Riel, E., Wárlám-Rodenhuis, C. C., Rutgers, E. J., & Ausems, M. G. (2010). BRCA testing of breast cancer patients: medical specialists’ referral patterns, knowledge and attitudes to genetic testing. European Journal of Cancer Care, 19(3), 369–276.
Wertz, D. C. (2002). Genetic discrimination—an overblown fear? Nature Reviews Genetics, 3(7), 496.
White, D. B., Bonham, V. L., Jenkins, J., Stevens, N., & McBride, C. M. (2008). Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiology, Biomarkers & Prevention, 17(11), 2980–2986.
Wideroff, L., Freedman, A. N., Olson, L., Klabunde, C. N., Davis, W., Srinath, K. P., et al. (2003). Physician use of genetic testing for cancer susceptibility: results of a national survey. Cancer Epidemiology, Biomarkers & Prevention, 12(4), 295–303.
Acknowledgements
The authors would like to thank Meghan Sweeney, Patricia Contino and Melissa Salm. This research was funded by the National Human Genome Research Institute, Ethical, Legal and Social Implications Program; R-01-HG002431-01; “Views of Privacy of Genetic Information,” and the National Human Genome Research Institute, “Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics,” 1P20HG005535-01.
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Klitzman, R., Chung, W., Marder, K. et al. Attitudes and Practices Among Internists Concerning Genetic Testing. J Genet Counsel 22, 90–100 (2013). https://doi.org/10.1007/s10897-012-9504-z
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DOI: https://doi.org/10.1007/s10897-012-9504-z