discoveries magazine

Innovation 5: Genetic Testing for All

Genetic testing could contribute significantly to disease prevention, but some who might benefit most are missing out on potentially lifesaving technology. While direct-to-consumer DNA tests have slipped into the mainstream, some people at high risk for specific diseases often cannot afford testing. Others are afraid the discovery of a genetic abnormality will cause them to be penalized by insurance providers. Beth Y. Karlan, MD, director of Cedars-Sinai’s Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, has launched a novel study that could help make genetic testing a healthcare standard.

“In 10 years, we might see people carrying a microchip card listing the diseases for which they are most at risk based upon their genetics,” Karlan says. “We need more genetic data to make that a reality but, first, we need to make testing more accessible and cost-effective.”

Karlan, the Board of Governors Chair in Gynecologic Oncology, and her team recently launched the BRCA Founder Outreach Study (BFOR), which offers genetic testing to men and women, age 25 or older, who have at least one grandparent of Ashkenazi (Eastern European) Jewish ancestry—a population 10 times more likely to carry mutations in the BRCA gene. The study’s model uses an online platform for enrollment and genetic counseling prior to testing.

Both men and women can carry BRCA1 and BRCA2 gene mutations associated with higher risks for breast, ovarian, prostate, and other cancers. Unfortunately, an estimated 90 percent of carriers are unaware they have a genetic abnormality until a family member is diagnosed with cancer. BRCA genetic testing is often not covered by health insurance for healthy, cancer-free individuals.

The BFOR study integrates the participants’ primary care physicians for follow-up and preventive recommendations. “There’s a huge shortage of genetic counselors in the U.S., but primary care physicians and nurses can be educated to discuss results of testing and develop appropriate follow-up plans so that more individuals can reduce their cancer risks,” Karlan says.

The hoped-for results? Saving lives by providing personalized medicine for all.

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Find out more about Cedars-Sinai clinical trials into BRCA 1 and BRCA 2.