Receiving a genome screening for cancer risk as an Ashkenazi Jew

| | December 8, 2014
This article or excerpt is included in the GLP’s daily curated selection of ideologically diverse news, opinion and analysis of biotechnology innovation.

Rarely could I be described in a headline in The New York Times, which explains why I lingered over one earlier this fall. “Study of Jewish Women Shows Link to Cancer Without Family History,” announced the 5 September story. Uneasily, I read on: “Women of Ashkenazi Jewish descent who tested positive for cancer-causing genetic mutations during random screenings have high rates of breast and ovarian cancer even when they have no family history of the disease, researchers reported Thursday.”


Science has been my professional home for the past 13 years, and in that time I’ve written extensively about genetic testing and spoken with dozens of experts at the field’s cutting edge. I’ve chronicled the scientific advances, the ethical quandaries, the lives testing saves, the angst it ignites. I had never turned the lens on my own DNA.

Abruptly, there was no escaping it. My parents are both of Ashkenazi descent. To my knowledge, no one on either side of my family has ever had breast or ovarian cancer. But suddenly I saw how a mutation in the genes discussed in that article, BRCA1 and BRCA2, might have slipped unnoticed through my father’s small family, heavy on the Y chromosome—through him; his older brother; my three cousins, two of whom are male. I remembered that my paternal grandfather had suffered from prostate cancer, which eventually spread to his bones and killed him. My uncle had the disease, too. Along with their storied role in breast and ovarian cancers, BRCA mutations are associated with prostate cancer in men. I’d long known that Ashkenazi Jews are more likely to carry mutations in those genes. But that was as far as my knowledge went.

Time seemed of the essence. I am 38 years old; ovary removal in BRCA carriers is recommended by 40. I called the suburban Philadelphia hospital where my children, now 2 and 5 years old, were born and spoke with a genetic counselor. She took a family history and agreed that yes, BRCA testing was worthwhile, and yes, insurance would likely cover it in my case.

I booked an appointment. I was about to experience my own sliver of the brave new world of cancer genetic testing, which would take me beyond BRCA and into more uncertain terrain.

Read full, original article: Peering into my genome

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