Matt Diamond is a 39-year-old financial planner whose sister happens to be an amateur genealogist. After creating a family tree for a school homework assignment, she was hooked and spent the next 25 years digging into her family’s Ashkenazi roots. In 2014, she sent a saliva sample to a genetic testing company, hoping to find more family members through their DNA database. She was shocked when the test identified her as a carrier for the BRCA2 mutation, a fact later confirmed by her medical doctor.

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I truly believe in the old adage that “knowledge is power.” When a couple finds that one or both carries a genetic mutation, this will likely change their perspective on family planning. Although this information might be hard to swallow, in my experience couples are happy that they are empowered with information that makes it possible to make sound decisions about their future.

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For 69-year-old New Jersey native Rona Greenberg, cancer has always been a constant. Her mother was diagnosed with breast cancer at age 37 and passed away six years later, when Rona was 19 years old. In 1997, just three years after the BRCA genes 1 and 2 mutations were identified, Rona and her three sisters participated in a clinical study for high-risk Ashkenazi women.

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Infographic

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JScreen has made access to genetic carrier screening easier than ever. A national effort based out of Emory University’s Department of Human Genetics, the JScreen genetic screening program is the first of its kind.

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Rachel Chaikof was two years old when, with the help of cochlear implants, she heard her mother’s voice for the first time. “Cry Rachel, cry Rachel, ” her mother sang, alongside Rachel’s grandmother, who clapped her hands, watching her granddaughter, born completely deaf, respond to sound. “My family and I never understood why my sister and I were born deaf,” Rachel, now 30, says, “We knew it was genetic, but we never really had an answer.”

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