0113geneticistport (1)Two decades ago, Mary-Claire King made one of the most important contributions to modern healthcare when she discovered the first gene linked to breast cancer. Now, she’s trying to one-up herself.
King, a genetics pioneer who won a major scientific award this week from the Albert and Mary Lasker Foundation, has issued a call to change how we think about gene testing in an approach she believes will prevent cancer, not just catch it early. (And if you’ve never met King, the fact that she’s using her award to shed light on a serious public health need rather than to celebrate her own career tells you a little something about her character. You can read more about her in this New York Times article.)
Most scientists would publish a proposal like this in Nature or Science, the two leading research journals. But King chose to publish in JAMA, one of the most respected medical journals, to get her message straight to physicians. And the message is this: Don’t wait until someone has had breast cancer or shows risk factors before testing. Every woman age 30 and older, King says, should be screened for the genes linked to hereditary breast and ovarian cancer.
Make no mistake: King’s proposal is more than just a new approach to cancer screening. This is a watershed moment for all genetic testing, which is currently used in a highly targeted manner—usually for people at clear risk of a disease, or to confirm a diagnosis based on existing symptoms. For years, scientists have imagined a world in which genetic testing is done for everybody, possibly even at birth, so that diseases can be avoided rather than managed. But imagination and obvious clinical utility are very different things. King’s proposal is the first to focus on dramatically expanding the use of an existing and proven genetic test, making her plea far more likely to resonate with medical professionals and the patients they serve. (Whether the insurance companies who pay them will heed the call is another story entirely.)
King’s scientific path could be described as a sleeper hit of a career. Starting in the ’70s, she toiled away, largely unnoticed, for nearly 20 years on a quest to find a gene linked to increased risk of breast cancer. At the time, the vast majority of scientists believed there was no such thing as genetic cancer risk, and that people like King were tilting at windmills. When she finally did locate the gene she named BRCA1—a feat that made her a household name among geneticists—it was almost immediately snapped up in the whirlwind of corporate gene patenting that took place during the early days of the Human Genome Project. BRCA1 was essentially off-limits to all but the patent holders from the late ’90s until last year, when a Supreme Court ruling declared that genes could not be patented. At last, the gene King had dedicated most of her career to was accessible for testing by any clinical lab, for any patient.
If ever there was a time for a prominent scientist to make such a proposal, this is it. The genes (BRCA1 and its companion, BRCA2) are available for testing with the best DNA analysis tools yet. Last year’s announcement by Angelina Jolie that she had a prophylactic double mastectomy based on her gene test results has sparked what medical geneticists are calling the Angelina Effect: anecdotal evidence suggests that labs are seeing double or even quadruple the number of women interested in breast cancer gene testing now than they did a year ago. At the same time, the preventive value of mammograms has increasingly been called into question, leading women to seek alternatives.
King has gone from contrarian scientist to a highly respected researcher who has been honored by her peers, the prestigious Lasker Foundation, and even Hollywood (Helen Hunt played King in this indie film released last year). If you’d like to show her some gratitude, here are two things you can do:
1. Tell your doctor you want to have the BRCA1 and BRCA2 gene test to determine your risk of hereditary breast and ovarian cancer. If you’re a dude, encourage your wife/sister/daughter to do so.
2. When you ask for the test, pronounce “BRCA1” the way King intended it: spelled out, letter by letter, rather than the “brah-kuh” pronunciation that has caught on instead.