By Marnie Gelbart and Nadine Vincenten
Direct-to-consumer (DTC) genetic testing has entered our world with a big splash and opened the flood gates of genetic information. For over a decade, we have been out talking with people from all walks of life and listening to their stories. Whether we are speaking with scientists or non-scientists, we hear excitement, concerns, ambivalence – sometimes all three at the same time – and not surprisingly, many many questions as people try to make sense of it all.
Susan Domchek, executive director of the Basser Center for BRCA, recalls counseling a patient with a family history of breast, ovarian, and colon cancer. This patient had taken a DTC genetic test that looked at her BRCA genes, and the results led her to conclude that she was not at risk for the cancers that had burdened her family. However, the patient did not realize that the test only looked at 3 of the over 1,000 BRCA variants linked to an increased cancer risk. And because the test did not look at other genes implicated in cancer, the physician recognized that it may have underestimated her patient’s risk. What if the patient had seen a doctor who did not understand the limitations of the test? Might she have avoided taking potentially life-saving precautions? Read More
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