Keeping medical genetics patient-centric

Thanks to the recent Supreme Court ruling in Association for Molecular Pathology v. Myriad Genetics, laboratories are now free to engage in a full range of diagnostic genetic testing, largely unencumbered by concerns of patent infringement. The resulting competition, which looks to be good for our patients, is already allowing BRCA1/2 testing for substantially reduced costs and spurring the availability of tests that sequence broad panels of genes. However, with this welcome new progress comes a potential downside. There are increasing concerns about laboratories using manipulative tactics to capture market share and persuade clinicians to use a particular lab.

In response to these concerns, the Cancer Genetic Counseling Program at the Yale School of Medicine has issued a laboratory position statement, emphasizing that decisions about which laboratory to use for genetic testing should focus on test quality, turnaround time, and cost. Moreover, the statement includes a pledge not to accept gifts (such as speaking fees and trips) or funding from testing laboratories. Finally, the statement advocates that, whenever possible, laboratories that make their data publicly available should be favored, so as to advance our communal knowledge (e.g., regarding the interpretation of variants of uncertain significance). This is also relevant to payers (e.g., Medicare), which could make such sharing a requirement for coverage.

Adoption of these well-articulated principles is a necessary and straightforward way for our profession to keep the good of our patients at the center of all we do. Broad adherence to such a code will help ensure that medical genetics retains the trust of all as genomic medicine plays an ever-increasing role in medicine. I urge the readers of Genetics in Medicine to read the full statement at http://yalecancergeneticcounseling.blogspot.com/2014/02/genetic-testing-lab-position-statement_2573.html and respond, making explicit your commitment to adhere to these policies. —James P. Evans, Editor-in-Chief

Double mastectomy increases survival in BRCA1, BRCA2 carriers

The decision to have an apparently unaffected breast removed after a diagnosis of breast cancer has been the subject of much debate. But for carriers of BRCA1 or BRCA2 genes, the findings from a new study may make that decision easier. Women who made the decision to undergo bilateral mastectomy had a greatly reduced risk of dying from breast cancer as compared with women who had only the diseased breast removed, according to a long-term study of 390 breast cancer patients published in February in the British Medical Journal. After 20 years, 88% of those who had undergone double mastectomy were alive, whereas only 66% of those who had had only the affected breast removed were alive. The researchers concluded that it is “reasonable to propose bilateral mastectomy as the initial treatment option for women with early-stage breast cancer who are carriers of a BRCA1 or BRCA2 mutation.” They further suggest that, for women who have already undergone unilateral mastectomy or breast-conserving surgery, a second surgery should be considered. Given the significant survival advantage, women with a family history of breast cancer stand to benefit greatly from breast cancer gene testing. —Karyn Hede, News Editor

Genetics in Medicine | Mission Statement

Genetics in Medicine is a monthly journal committed to the timely publication of:

  • Original reports which enhance the knowledge and practice of medical genetics

  • Strategies and innovative approaches to the education of medical providers at all levels in the realm of genetics

As the official journal of the American College of Medical Genetics and Genomics (ACMG), the journal will:

  • Provide a forum for discussion, debate and innovation concerning the changing and expanding role of medical genetics within the broader context of medicine

  • Fulfill our responsibility to the College membership through the publication of guidelines, policy statements and other information that enhances the practice and understanding of medical genetics

Finally, as genetics becomes increasingly important in the wider medical arena, we will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to providers outside of the genetics community through appropriate reviews, discussions, recommendations and guidelines.