Beginning this week, the Program for Jewish Genetic Health, a nonprofit affiliated with Yeshiva University and the school’s Albert Einstein College of Medicine, is teaming up with Montefiore Health System to offer subsidized genetic testing for Ashkenazi women and men who might be carriers of the BRCA1/2 genes for breast cancer. The cost for the test is $100. To discuss the test and broader questions about breast cancer, The Jewish Week spoke with Dr. Susan Klugman, medical director for the Program for Jewish Genetic Health, director of the division of reproductive genetics at Montefiore, and professor of clinical obstetrics and gynecology and women’s health at Einstein. The interview was conducted via email.
Jewish Week: Do you think the new subsidy will significantly increase the number of women who get tested?
Dr. Klugman: Definitely. We hope that a more affordable price will make this testing more accessible to those who are motivated to learn about their carrier status. Also, this subsidy is equally available to both women and men since BRCA mutations can be transmitted to either gender. We also hope that our awareness campaign with subsidized testing will draw people who did not already appreciate the value of BRCA testing.
What would BRCA1/2 genetic testing cost without this new subsidy, and do insurance companies routinely cover such testing?
Currently, the cost of genetic testing for the three common Ashkenazi mutations in BRCA1/2 can be close to $600. Health insurance is not likely to cover this cost for individuals who do not have a personal or family history of cancer and whose only risk factor for carrying a mutation is being Ashkenazi Jewish.
For those Ashkenazi patients who do have cancers in their families, we are finding that insurance will cover this type of testing, and usually more extensive testing too.
Should a woman get tested even if she has no family history of the mutations or if she is considered low-risk?
Testing in these cases will most definitely identify carriers (male and female) who otherwise would not have been picked up since they would have been overlooked by conventional testing criteria. In fact, a recent study out of Israel has confirmed findings of previous studies that the frequency of BRCA mutations in Ashkenazi Jews is the same whether or not there is a family history of cancer. The results of this recent study also suggest that the risk of developing cancers for Ashkenazi BRCA carriers without a personal or family history of cancer was comparable to the risk of developing cancers for BRCA carriers who do have cancer in the family. These data may persuade some to get tested, especially since carriers have medical management and reproductive options available to them.
However, because there still are unresolved questions that need to be answered regarding BRCA mutations in low risk families, there is hesitancy to begin recommending testing for all individuals of Ashkenazi Jewish descent. Having it made accessible for those who are already interested is a first step along this route.
Is there genetic counseling available as well as testing?
All patients who come for genetic testing are seen by a genetic counselor prior to their testing. We believe that our patients should have a clear understanding of the benefits and limitations to BRCA testing before they pursue it. All carriers will also return for follow-up counseling.
If a woman decides to make use of the subsidy, how does the process work?
All interested individuals should read more about the initiative as a whole, including its research component. They then can register by providing information about their own, as well as their relatives’ cancer histories on our secure study website (BRCAcommunitystudy.einstein.yu.edu). Those who are identified as high risk to carry a BRCA mutation will be using their health insurance to cover the cost of genetic testing and genetic counseling. Low-risk individuals will attend free group genetic counseling sessions and will pay the subsidized fee at the time of their appointment. Subsidies are also available to high-risk individuals who do not have insurance or whose insurance will not cover their genetic testing.
What is the latest research about the BRCA1/2 mutations regarding incidence among Ashkenazi Jewish women?
As early as the mid-1990s it was recognized that specific BRCA mutations are more common in the Ashkenazi Jewish population. The original studies identified a carrier frequency of 1 in 40, while more recent studies have identified a carrier frequency of 1 in 40 to 1 in 100. The takeaway is that these specific BRCA mutations are common in Ashkenazi Jews, and knowing one’s BRCA status can save lives. That’s why we believe it’s so important that this testing is available to all Ashkenazi Jewish men and women if they want to pursue it.