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Another Knock Against Doctors

The O Magazine is cautioning women that doctors' lack of genomics knowhow may harm their health.

Citing a 2012 study by Arup Labs, which found that healthcare providers ordered the wrong genetic test approximately one-third of the time, reporter Cheryl Platzman Weinstock writes that although "research in the field of genetics has advanced at breakneck speed ... many doctors have little to no formal training in genetics, and that ... can lead to devastating mistakes."

Weinstock highlights the example of Lupe Acosta, a mother living in a small town not far from Los Angeles, who had already gotten one mastectomy after being diagnosed with a type of breast cancer. She decided to get genetically tested for BRCA1 and BRCA2 mutations — markers associated with heightened risk of hereditary breast and ovarian cancer — and the results said she had a variant with an unknown association to breast cancer.

However, according to Weinstock's article, it appears that Acosta understood her test results to be positive after discussing it with her oncologist. The suggestion by Weinstock, although not explicitly stated, is that Lupe's doctor recommended another mastectomy based on the results.

Further testing on Myriad Genetics' BRACAnalysis Large Rearrangement Test revealed Acosta didn't have a deleterious mutation and a second doctor's opinion was that she didn't need a preventative mastectomy. Still, Acosta decided to get the surgery anyway. "I couldn't shake the feeling that I was a ticking time bomb," Acosta tells O Magazine. "I had to go ahead with the surgery if I was ever going to move on with my life."

Increasing physicians' genomics education is undoubtedly a serious need. And our sister publications at GenomeWeb have reported on a number of efforts underway in this regard. But this story also shows the public doesn't have a good grasp of concepts of genomic risk. Lupe's original test results and interactions with her physician may have confused her about her risk for breast cancer, but a second test and a second opinion from a oncologists with genetics expertise couldn't convince her to not get a second mastectomy. If anything, this story highlights the importance of educating patients about genomics as well.