Genetics

As one of the most significant predictors of hereditary breast and ovarian cancer, the BRCA1/2 genes have become the poster child for genetic testing. In the past 18 months, the floodgates for testing options have opened, as companies seek to enter the diagnostic market in the wake of the US Supreme Court's June 2013 ruling that "naturally occurring" human genes are a "product of nature" and cannot be patented, breaking Myriad Genetics' monopoly on BRCA1/2 gene testing.

The FDA has approved the PARP inhibitor olaparib (Lynparza) for the treatment of women with BRCA-positive advanced ovarian cancer. The approval was based on results from a single-arm phase II study of patients with deleterious or suspected deleterious germline BRCA-mutated advanced cancers

Anees B. Chagpar, MD, MSc, MA, MPH, associate professor of surgery (oncology), director, The Breast Center at Smilow Cancer Hospital at Yale-New Haven, program director, Interdisciplinary Breast Fellowship, assistant director, Diversity and Health Equity at Yale Cancer Center, discusses a study that looked at patient perceptions of the impact of genetic testing for breast cancer risk on health insurance.

For individuals living in rural areas, getting a genetic test can impose its own set of barriers, like multiple long trips for counseling, testing, and follow-up. However, findings of a new study published in the Journal of the National Cancer Institute have shown that telephone counseling was just as effective as in-person counseling in many respects.

Facing Our Risk of Cancer Empowered (FORCE), the nation's only nonprofit organization dedicated to families with hereditary breast and ovarian cancer (HBOC), is celebrating National Hereditary Breast and Ovarian Cancer Week and National Previvor Day to create awareness and recognize those affected by a genetic predisposition to these cancers.

The demand for genetic services has never been greater. Vast advances in genetic technology, Angelina Jolie's disclosure that she is a BRCA mutation carrier, and the Supreme Court ruling on gene patents have hurled genetic services into the mainstream. Since the Supreme Court ruling last year, the cost of germline (hereditary) genetic testing has plummeted and now includes panels of genes.