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The Gender Gap in Genetic Testing

By Amy Dockser Marcus on 8/8/2018 from The Wall Street Journal. 

Mark Meerschaert learned from a posting in a family Facebook group a few years ago that a close male relative tested positive for an inherited mutation in the BRCA2 gene. The gene mutation is widely associated with female breast and ovarian cancer, but increases risk for other cancers, too. The relative suggested that family members consider getting tested. 

Dr. Meerschaert, a 62 year old statistics and probability professor at Michigan State University, ignored the advice at first. He had already been diagnosed with prostate cancer, and as the father of two sons, getting tested didn't feel urgent or relevant in the same way it might have, he says, if he had daughters. "I was still thinking about it mainly as a problem for the woman in the family," he says. 

He isn't alone. When it comes genetic testing that may indicate increased cancer risk, gender gap is worrying researchers. 

Women and men who carry inherited BRCA gene mutations associated with increased cancer risk have an even chance of passing them on their children. But women received genetic testing for hereditary cancer risk three times as often than men in a study published in June in the journal JAMA Oncology. When it came to genetic testing for mutations associated with hereditary breast and ovarian cancer syndrome, such as BRCA1 and BRCA2, the gender gap was even greater: Women were 10 times as likely to get tested than men. 

Those inherited gene mutations have health implications for men, too. Men are at higher risk for developing prostate cancer, male breast cancer, pancreatic cancer and melanoma. 

"We were really struck by the massive disparity," says Christopher Childers, resident physician in the department of surgery at the David Geffen School of Medicine at UCLA and senior author of the JAMA Oncology paper. 

Studies about who gets genetic testing in general are evolving. Research like the recent JAMA study confirms what genetic counselors have been seeing: many more women than men coming in for testing. 

Doctors and researchers are launching new efforts to address the disparity, starting with men who may already have medical issues or a family history of cancer. 

The National Comprehensive Cancer Network, a nonprofit alliance of national cancer centers, recently modified guidelines to include a recommendation that men with metastatic prostate cancer should consider genetic testing. Researcher at Fed Hutchinson Cancer Research Center and the University of Washington launched the Gentleman study, offering free genetic testing to 2000 men with advanced prostate cancer to determine if they have inherited mutations linked to increased cancer risk. 

Some researchers say genetic testing for men has lagged behind women because scientists still don't know enough about which mutations increase risk, or by how much. (Previous studies indicate that men are generally less likely than women to go to the doctor.)

Data from recent studies published in the scientific literature helped drive the decision to pen the Prostate Cancer Genetics Clinic at the Seattle Cancer Care Alliance, says Heather Cheng, an oncologist, director of the clinic, and a lead investigator of the Gentleman study. "We want to have a new conversation with men," she says. 

Some researchers believe social factors contribute to a testing gap. Celebrities like Angelina Jolie have open about their own experiment with inherited BRCA mutations. Ms. Jolie encouraged women to learn from more medical experts after discovering she had the mutated BRCA1 gene. Women are likelier than men to share genetic testing information with relatives, according to Alicia Zhou, director of research at Color Genomics, a Burlingame, Calif.-based genetic testing company that is studying the issue. 

Robin Cole says he, his father and seven brothers all had or died from prostate cancer. But they avoided the subject when they got together. "It was like it was only going on in our own home," says Mr. Cole, a 62-year former linebacker for the Pittsburgh Steelers. The Robin Cole Foundation sets up a tent outside the first Steelers home game of the season, he says, trying to break the taboo and talk to men about cancer and genetic testing. 

Colin C. Pritchard, an associate professor of laboratory medicine at the University of Washington and an author of study about genetic mutations associated with increased prostate cancer risk, attributes some of the gender gap in testing to "a naming problem."

Men with gene mutations associated with hereditary breast and ovarian cancer syndrome are at higher risk of prostate cancer. But they hear the syndrome's name, he speculates, and don't think about the risk. 

At the professional meetings, Dr. Pritchard has suggested calling the syndrome something more inclusive. "We don't think about what we do in medicine as branding," Dr. Pritchard says, "but the name impacts the understanding around the genes."

Kimberly Childers, a genetic counselor at Providence St. Joseph Health in Southern California and lead author of the JAMA gender-gap paper, says she and other researchers are stepping up outreach to men. 

Providence St. Joseph Health launched a program to seek out men in urologic oncology and primary care practices-places where men are more likely to go with early concerns about prostate cancer, she says. The experience has led her to believe that the testing gap isn't due to lack of interest. "Men aren't being identified," she says. 

Dr. Meerschaert, the Michigan State professor, says he finally decided to seek genetic testing. He learned that, just like his relative, he had a BRCA2 gene mutation. He now screens regularly for skin cancer. He told his two sons to get tested, too. When asked what persuaded him to do the genetic testing, he sounds bemused. "My wife insisted," he says. 

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