In an effort to make BRCA genetic testing more accessible — particularly for Ashkenazi Jews who are 10 times more likely than the general population to inherit certain kinds of BRCA mutations associated with several types of cancer, including breast, ovarian and prostate cancers — a team of researchers and geneticists has launched a unique study using the Internet.
Researchers for the BFOR Founder OutReach Study are asking Ashkenazi Jews to sign up for the free testing by logging onto the website, www.BFORStudy.com. The site will ask a series of questions to determine eligibility and will also include educational videos to explain the test, the purpose of genetic testing and its importance. The registration process takes about one hour.
The site will also connect them to Quest Diagnotics, where they then make an appointment to have blood drawn for the genetic test at any of several Quest offices in the New York metropolitan area. Participants can opt to have the results sent to their personal physician or a health care provider on the BFOR study team. Test results take several weeks to complete.
The BRCA genetic test looks for mutations or abnormalities in the BRCA1 and/or BRCA2 genes. These mutations can be passed from parent to child and increase a person’s risk of certain cancers. One of the BCRA1 or BRCA2 mutations is found in 1 out of every 40 Ashkenazi Jews in the U.S. Ashkenazi Jews comprise about 90 percent of this country’s approximately 6 million Jews.
Dr. Kenneth Offit, a principal investigator of the study, said that although this genetic test has been offered for 20 years, this research study is to “understand how we can do the testing more effectively and in greater volume. It will allow people wishing to participate in the study to go online, sign up and get tested at any one of a number of places. There is no need to speak to a physician to order the test and there is no cost.”
If the test comes back positive for a male participant and the results are sent to his doctor, his doctor could perform a PSA test and, depending upon the results, perform a biopsy of the prostate.
“If the doctor is not sure, he can call an expert like me,” Offit said. “We are making ourselves available to educate doctors and to offer educational material for patients.”
He stressed that the study is not going to simply send the results to patients and have them “go on line and figure out what to do themselves. If you test positive, you can go to either your own doctor or come to see genetic counselors at Memorial Sloan Kettering Cancer Center in New York. We will advise you on what we recommend to be done based on your test results.”
Before that is done, however, Offit said all those whose tests come back positive will be asked to take another blood test to confirm the results.
“We think this is the safest way to do the study,” he said, explaining “there are a lot of people involved and we are physicians who are aiming for zero error.”
“We carried out a study on Jewish men with the BCRA mutation and found that all those who had prostate cancer had an aggressive type. We feel this test in men is very important.”
Women who inherit a mutant gene “could die of ovarian cancer or get breast cancer,” Offit said, adding that a positive result then leads women to plan for preventive removal of their ovaries after childbearing is complete — and to consider whether to have their breasts removed or not.
“Most women will not choose preventive breast surgery,” he said. “We — or their doctors — can help them make that decision. We have found that a significant number of women who test positive will have an MRI screening rather than a mammogram because a mammogram will miss about half of tumors and the more sensitive MRI will pick up 80 percent.”
A positive test in women will also alert them to the possibility of ovarian cancer, which Offit said is “taking a toll of lives in the Jewish community — and it is preventable.”
If couples who are tested have negative results, Offit said that assures their children that they will not be carriers of these mutations.
“If we could do this testing among all the estimated 4 million to 5 million Ashkenazi Jews in the U.S. who are over the age of 25, we estimate we could save something like 100,000 lives. There is a lot on the line here. Uptake of testing in the Jewish community has not been very high and we want to improve this.”
Offit estimated that testing on that scale would cost about $40 million and that funds would have to be raised. There is currently enough funding for this study for 4,000 people, 1,000 from each of four geographic areas of the country — New York, Los Angeles, Philadelphia and Boston — led by academic hospitals in those cities.
“We are confident this is going to work,” he added. “It will demonstrate that the community is going to be able to do this, and it will show that this is a very effective way to have genetic testing and not lose your relationship with your doctor.”