Cancer touches us all. But it’s no secret, at least in the medical community, that elevated genetic risk of several cancers disproportionately afflicts one community: Ashkenazi Jews.
Jews of Eastern European ancestry, commonly known as Ashkenazi Jews, are 10 times more likely than their non-Ashkenazi counterparts in the general population to inherit mutations of BRCA genes linked to different cancers, including breast, prostate and ovarian cancers. Despite the high stakes and reliable genetic testing that has been around for two decades, the testing rate for Ashkenazi Jews is believed to be alarmingly low. According to published studies and the estimates of experts, as few as 20 percent of those who should get tested actually do.
“There are multiple barriers of entry,” Dr. Kenneth Offit, a prominent cancer geneticist and oncologist at Memorial Sloan Kettering Cancer Center in New York recently told JNS. “One is information, specifically making sure people know whether or not they should get tested, and that this test can be life-saving. But information isn’t enough. The other part of the problem is access.”
Offit, who actually helped discover the BRCA-2 gene in 1996, said that even many colleagues—fellow physicians of Ashkenazi Jewish ancestry—have neglected to get tested, which has “led to profound consequences.”
“Why would it be that physicians who certainly have knowledge on this subject not seek testing when they’re well-aware that the testing is available?” he said. “What does that mean for everyday people who don’t even know it’s available?”
‘Breaking down the barrier of entry to get the test’
To get the word out, Offit and a team of renowned researchers and geneticists at cancer centers across the country have launched the pilot phase of an Internet study offering free BRCA genetic testing for men and women of Ashkenazi Jewish ancestry over the age of 25—a target group comprising nearly 2.5 million Americans.
Dubbed the BRCA Founder Outreach (BFOR) study, the privately funded, independent research initiative currently has 1,500 participants across four cities: New York, Boston, Philadelphia and Los Angeles. BFOR study organizers aim to increase total enrollment to 4,000 participants through communal outreach efforts.
Participants sign up for genetic testing at no cost by logging on to the website (www.BFORStudy.com) and answering a series of questions to determine eligibility. Educational videos explain the specifics of the test, the purpose of genetic testing and its importance. In all, the registration process takes no more than an hour.
The site also allows patients to schedule genetic-testing appointments at the offices of Quest Diagnostics, which has several locations in each of the four cities. They can opt to have results sent to a personal physician or a health-care provider on the BFOR study team.
“The unique feature of the study is that we’re really breaking down the barrier of entry to get the test, as it’s available through the Internet without needing a doctor to order it for you and without you having to pay for it,” said Offit. “It’s clearly borrowing from the commercial approach to testing, but where it’s different is you’ll get the result in a medical model from either your own doctors or one of the study’s doctors.”
Dr. Susan Domchek, executive director of the Basser Center for BRCA at the University of Pennsylvania’s Abramson Cancer Center, who is heading up the BFOR study’s Philadelphia region, told JNS that getting results from a health-care professional is vital and shouldn’t be bypassed in favor of the commercial approach pioneered by genetic testing behemoths like 23andMe.
“With direct-to-consumer testing, your doctor doesn’t know you’re getting tested, and everything is up to you,” she said. “In the future, you’re going to have more and more genetic information at your disposal. But it’s important that interpreting results is done in a medical context with professionals, so that we can help determine what those results mean.”
Interpreting results with the help of a trained genetic counselor is another key component of the BFOR study. Each BFOR study region is offering up the services of genetic counselors both before and after the dispensing of genetic-test results. Genetic counselors help explain to patients what the process of genetic testing entails, what the results indicate, the potential medical management that lies ahead and how to deal with emotional stress related to results.
‘These are preventable cancers’
Daniella Kramera, a BFOR study genetic counselor at the Cedars-Sinai Women’s Cancer Program in Los Angeles, is optimistic about what the study can accomplish.
“This is truly a groundbreaking study,” she said. “Right now, we predict that we’re missing anywhere from 80 to 90 percent of people in the Ashkenazi community who have BRCA mutations. We’re catching those people once they’ve already been diagnosed, which in many cases is too late. These are preventable cancers. These are people with increased risk, which means we can often treat it early or prevent it before it develops.”
Responses to tests that detect BRCA mutations may include recommendations for screenings for ongoing monitoring, such as mammograms or prostate exams, or risk-reducing surgeries. Test results can also reveal family members as carriers.
“This isn’t testing patients for genetic susceptibility; it’s testing families,” said Domcheck. “If you’re a carrier, your children have a 50 percent chance of having a BRCA mutation.”
Another role of genetic counselors in the BFOR study is working directly with a patient’s primary-care provider once the results have been issued.
“I’ve seen a lot of mistakes made because physicians or other specialists are misinformed, such as a woman who was recommended to have risk-reducing surgery when she shouldn’t have been,” said Kamara. “People not understanding the intricacies of genetic testing and its results can lead us down a scary road. It’s important that specialists, primary-care providers and genetic counselors work together.”
BFOR study organizers insist that their goals are short-term. They’re focused on seeing how effective the pilot study can be. Any scaling up to reach the rest of the estimated 2.5 million at-risk Ashkenazi Jews in the United States would take millions of dollars of additional fundraising, according to Domcheck.
Still, it’s hard to ignore the potential reach of the model.
“Long term, if this study works in the pilot phase, it certainly could succeed scaled up in a larger Ashkenazi Jewish population and help provide even more families with valuable medical information,” she said. “And there’s no reason it can’t be applied to other populations, too.”