Direct to Consumer Genetic Testing for Breast and Ovarian Cancer Risk Creates Confusion

Washington, DC—Haywood L. Brown, M.D., president of the American College of Obstetricians and Gynecologists (ACOG), released the following statement in response to the U.S. Food and Drug Administration’s (FDA) approval of direct to consumer testing for BRCA1/2 mutations:

“In the wake of the FDA’s authorization of a direct to consumer (DTC) test for mutations in the BRCA1 and BCRA2 genes, the American College of Obstetricians and Gynecologists (ACOG) remains concerned about the significant limitations of these tests and discourages their use.

“Assessing cancer risk begins well before a genetic test is performed and includes multiple steps to evaluate all the factors that contribute to a patient’s risk potential. Understanding the limitations and benefits of genetic testing, including clear information about the capability and the applicability of results, is fundamental to determining if and when genetic testing is appropriate. DTC testing for hereditary cancer syndromes does not adequately establish each of these components, and instead picks up in the middle of the process, resulting in an incomplete, and sometimes misleading, result.

“Available genetic testing for hereditary breast and ovarian cancer syndromes extends beyond the BRCA1 and BRCA2 genes to provide personalized risk assessment, ensuring health care providers with expertise in the management of these diagnoses can provide appropriate care for each patient. However, by generating results for only three mutations when more than 500 are known to be associated with cancer in the BRCA1 and BRCA2 genes, the newly authorized DTC test leaves patients with only partial knowledge of their genetic risk.

“Without clinical guidance, patients may be mistakenly reassured or unnecessarily concerned about cancer risk based on the results of their DTC test. Health care providers may also face uncertainty about accurately interpreting and counseling patients with questions about both positive and negative test results. And both instances have the potential to generate misinformation, confusion, excess cost for unnecessary tests and fear for patients and health care providers.

“Genetic testing is exceedingly complex and sensitive, and should be handled deliberately and with caution. ACOG remains steadfast in its recommendation that patients who want to better understand their specific genetic risks for breast and ovarian cancer consult with an ob-gyn or other health care professional with genetic expertise to determine the best course of action.”

More information on hereditary breast and ovarian cancers is available in Practice Bulletin #182, “Hereditary Breast and Ovarian Cancer Syndrome.”

The American College of Obstetricians and Gynecologists (ACOG) is the nation’s leading group of physicians providing health care for women. As a private, voluntary, nonprofit membership organization of more than 58,000 members, ACOG strongly advocates for quality health care for women, maintains the highest standards of clinical practice and continuing education of its members, promotes patient education, and increases awareness among its members and the public of the changing issues facing women’s health care. www.acog.org