• Action News Jax Investigates: At-home test for breast cancer gene

    By: Paige Kelton , Action News Jax


    Genetic testing is available in the comfort of your own home for a fraction of what it costs in a doctor’s office.

    Direct-to-consumer genetic test kits that reveal your ancestry, and even your risk for certain forms of cancer, are growing in popularity.

    No one knows more about living with the fear of a cancer diagnosis than Rebekah Richmond.

    In 2015, at just 39 years old, Richmond, who is the mother of two sons and a doctor, had a double mastectomy and hysterectomy. She chose to have those procedures after testing positive for the BRCA 1 gene mutation.

    "There's a fear on a day-to-day basis that you're a ticking time bomb,” she said.

    Genetic testing helped Richmond make that life-changing decision.

    Now, you can test for the BRCA mutations for around $100, thousands less than what you'd pay in the doctor’s office. But Richmond is skeptical.

    "The at-home tests, they bring good recognition, but unfortunately, they don't test for all the genes we're looking at," Richmond said.

    To illustrate how it works, we put the Color Genomics at-home kit to the test, with the help of Richmond and Janice Coursey, two women who already know their results for the BRCA gene mutation.

    You can either get a referral from the doctor or the company will get one for you. The kit arrives in the mail, your saliva goes into a tube and you mail it back. Results take about 4 weeks. 

    Coursey tested negative for both BRCA mutations, something she already knew from previous testing through her doctor. Richmond's results were also accurate, positive for BRCA 1, but instead of an email, she got a phone call from a genetic councilor who walked her through the results and what they mean.  

    “I think she was very knowledgeable, very up to date on the true cancer risks associated with this gene, not just breast and ovarian but pancreatic as well,” Richmond said.  

    BRCA mutations are found in only about 5 to 10 percent of all breast cancer cases. 

    Most women who develop breast cancer have no family history of the disease.   

    University of Washington professor Dr. Mary Claire King discovered the BRCA 1 gene.

    “It gave us a tool so that women could learn, woman by woman, their actual risk,” King said.

    King vetted the at-home test, sending Color Genomics 400 of their trickiest DNA samples challenging them to find the mutations.

    “They sent back 400 answers. they got every single one correct,” she said.

    She's now an unpaid advisor for the company.

    As more women use the do-it-yourself tests, the Susan G. Komen Foundation, National Cancer Institute and others recommend only women with a personal or family history be tested for the BRCA mutations.

    Recently, the Food and Drug Administration gave first of its kind approval to 23 and Me to start offering a test for three specific mutations in the BRCA gene without a prescription, but the agency cautions the test should not be a substitute to seeing your doctor.

    Next Up: