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Lasker Winner Urges Wider Genetic Screening

Mary-Claire King, one of the newly announced Lasker Award winners, and her colleagues call for more widespread genetic screening in the Journal of the American Medical Association this week.

King, a professor at the University of Washington, received the Lasker-Koshland Special Achievement Award in Medical Science in recognition of her discovery of the BRCA1 gene locus that causes hereditary breast cancer as well as her contributions to using genetic techniques to identify missing children and human remains.

In JAMA, the University of Washington's King and her colleagues say that women who are carriers of BRCA1 and BRCA2 mutations linked to breast and ovarian cancer risk are often only identified as carriers after they've been diagnosed with disease. "To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention," the researchers write.

They say that all women aged 30 or over should be offered genetic screening of their BRCA1 and BRCA2 genes as part of routine medical care. Women then found to be at high risk can then be targeted for special screening and counseling.

Currently, they note that the US Preventive Services Task Force backs BRCA1 and BRCA2 testing only based on family history and ancestry, but they say their recent results, published in the Proceedings of the National Academy of Sciences, support more widespread testing.

"We recommend that every woman in America of any race or ancestry be offered this opportunity when she's in the midst of childbearing or beginning childbearing," King tells the New York Times. "You only need to be tested once, and the vast majority of women will not have a mutation and can go about their life. The actual cost is minimal."

Critics, the Times notes, say they want to see evidence that women with such mutations, but no family history of breast cancer are at high risk of developing disease. They also noted that counseling on the potential benefits and harms of testing would need to be made available.

Other 2014 Lasker award winners include Kyoto University's Kazutoshi Mori and Peter Walter from the University of California, San Francisco, for their work on the unfolded protein response and Alim Benabid at Joseph Fourier University in France and Mahlon DeLong at Emory University for developing deep brain stimulation to treat Parkinson's disease.

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