The Coming of Clinical Genetics into Medical Practice: Concern for Confidentiality
by P. Preston Reynolds, MD, PhD, FACP*

What was once a set of activities reserved exclusively for the research community, genetic testing may move quickly into clinical medicine requiring practicing physicians to acquire new knowledge and skills in order to competently deliver these expert services. Three forces are driving the move of genetic testing into clinicians’ offices.^1-3

marketing by pharmaceutical companies to consumers with an emphasis on hereditary breast/ovarian cancer screening and the use of tamoxifen and other chemotherapeutic agents;
advent of therapies that have been shown to significantly reduce mortality from cancer syndromes, such as bilateral mastectomy for women with BRCA1 or BRCA2 mutations; and
medicolegal pressures that raise expectations for physicians to know who to test, and how to manage patients with genetic disorders.

What can physicians expect? What do preliminary studies show? Mildred Cho and colleagues published in January of this year an analysis of the use of BRCA1/BRCA2 gene testing by practicing physicians. Between October 1995 and January 1997, 334 practitioners who requested information on or ordered BRCA1/2 genetic testing from the University of Pennsylvania laboratory were sent a one-page questionnaire exploring areas such as how practitioners learned of BRCA1/2 testing, if they ordered a gene test, reasons for doing so, and a description of the genetic testing services available to them. Of the respondents, 39% were physicians, with internists and surgeons comprising 20% of this group. Two-thirds of physicians were in private practice. Furthermore, two-thirds had offered genetic testing, with 15% of physicians doing so for reasons not consistent with screening guidelines established by the University of Pennsylvania Genetics Diagnostic Laboratory. Of note, 70% of those practitioners who had offered a genetic test to a patient had a patient decline to be tested. The two most common reasons were concern about confidentiality and fear of the results.⁴

Concern about confidentiality of genetic test results is widespread. In studies by the National Institutes of Health, 32% of eligible people recently offered a test for breast cancer risk declined to take it, most commonly citing concerns about health insurance discrimination and loss of privacy. A majority of respondents (63%) said they probably or definitely would not take a genetic test if insurers or employers would have access to the results. Lastly, 69% of Americans thought health insurers should be barred from accessing genetic Information.⁵

Essential elements of genetic testing are pre-test and post-test genetic counseling. These expert services are provided most often by specially trained genetic counselors who spend 1-2 hours per session explaining to individuals and families the risk of inheriting a gene mutation and the implication of a positive test result, assisting patients in their decision-making process, and obtaining written informed consent once the patient has learned the potential negative uses of genetic information.⁶

With concern about confidentiality of the genetic test results, it is important for physicians to identify genetic counselors to assist them in the education of patients to insure that the decision to undergo testing is the best choice for each patient and their family members.

*Associate Professor of Medicine and History, Johns Hopkins University School of Medicine, Baltimore, MD

References:

¹Nolvadex Advertisement. (February 1999). New England Journal of Medicine.

²Hartmann L, Schaid DJ, Woods JE, Grotty TP, et al. (1999). Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. New England Journal of Medicine, 340: 77.

³Lynch HT, Paulson J, Severin M, Lynch J, Lynch P. (1999). Failure to diagnose hereditary colorectal cancer and its medicolegal implications. Diseases of the Colon and Rectum, 42: 31-35.

⁴Cho MK, Sankar P, Wolpe PR, and Godmilow L. (1999). Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test. American Journal of Medical Genetics, 83: 157-63.

⁵Health Insurance Discrimination: Issues Update. (September 1998) National Human Genome Research Institute National Institutes of Health.

⁶Kessler S. (1997). Psychological aspects of genetic counseling XI. Nondirectiveness revisited. American Journal of Medical Genetics, 72: 164-71.