Thinking Outside the Lines
A few weeks ago, Emily, one of my fellow genetic counselors, saw an Ashkenazi Jewish young woman and her mother for counseling. The reason for their visit was because the mother has a BRCA mutation, which means that she carries a genetic mutation which dramatically increases her risk to develop breast and ovarian cancer. It also means that each of her children has a 50% risk of inheriting the same mutation.
As in any genetic counseling session, Emily took a detailed family history. Her questioning led her to learn some new facts about the young woman: she was only half Ashkenazi, and she and her husband had already done some carrier screening for common diseases in the Ashkenazi population that could affect offspring a few years earlier, and were found to be genetically ‘compatible.’ Emily recommended that she update her panel, despite her only being half Ashkenazi, since she was not tested for the whole battery of tests that is available today. The thought of updating had never crossed her mind. The young woman also had BRCA testing on that day, which at the time, was more anxiety-provoking since its potential results carried more ramifications to her own health.
About 2 weeks later, the results were in. It turns out she was a carrier for 3 ”Ashkenazi Jewish” diseases that she was not tested for earlier! A triple carrier! Had Emily not taken the time to take the family history and think about things that were beyond what the patient came to talk about, this may have not been picked up. This story has a happy ending –the young woman was negative for the BRCA mutation (phew!) and her husband tested negative for all 3 diseases. But unfortunately it does not always end this well.
Emily’s story makes me want to remind you that genetic information can be difficult to sort through. That is why I am encouraging you to have a genetic counselor explain it all in English and make sure all the proper testing is ordered. Thinking outside the lines comes with proper training and therefore, if you have any concerns about your genetic health, I strongly encourage you to seek professional help in this realm. You never know.
Posted on September 20, 2012, in Uncategorized and tagged Ashkenazi diseases, BRCA, breast cancer, carrier, genetic screening, Jewish genetic diseases, Jewish genetics, Program for Jewish Genetic Health. Bookmark the permalink. 7 Comments.