Newswise — NEW YORK, January 21, 2015 –New York metropolitan area Ashkenazi Jewish women and men aged 25 and older can now opt to undergo testing for the three common Ashkenazi Jewish BRCA founder mutations at a fraction of the commercial price, thanks to a new, philanthropy-based initiative from the Program for Jewish Genetic Health (PJGH), a not-for-profit organization affiliated with Yeshiva University and Albert Einstein College of Medicine (Einstein), in conjunction with Montefiore Health System (Montefiore). This initiative, the first of its kind in the United States, makes this testing available to all Ashkenazi Jewish individuals, regardless of their BRCA-related cancer histories or their insurance/financial situations, both of which have been barriers to date.

“Most insurance companies currently require people to already have had family members with cancer if they want to be covered for BRCA genetic testing,” said Susan Klugman, MD, medical director for the Program for Jewish Genetic Health, director of the division of reproductive genetics at Montefiore, and professor of clinical obstetrics & gynecology and women's health at Einstein. “We at the Program for Jewish Genetic Health are not willing to wait for that.”

BackgroundApproximately 1 in 40 individuals of Ashkenazi Jewish descent carries one of three founder mutations in the BRCA1 or BRCA2 genes, a carrier rate tenfold higher than that of the general population. Females carrying a BRCA mutation face a significantly higher risk of developing breast and ovarian cancer in their lifetime, while male BRCA mutation carriers are at higher risk of developing prostate and breast cancer, among other cancers. BRCA carriers also have a 50 percent chance of passing the altered gene on to each of their offspring, who in turn will have an increased susceptibility for these cancer types. Individuals who find out that they are BRCA carriers through genetic testing have cancer risk-reducing and reproductive options.

Today, most health insurance policies cover BRCA testing only for those who are considered at “high risk” to have a BRCA mutation– those with a significant personal or family history of these cancers. However, individuals who are at “low risk” to have a BRCA mutation – those who do not have a significant personal or family history of cancer – along with those with no health insurance, are faced with steep out-of-pocket costs. Testing for the three common Ashkenazi Jewish BRCA founder mutations via the traditional, commercial-based process can cost more than $600 for these low risk and uninsured individuals. The Program for Jewish Genetic Health is now providing testing for $100, along with complimentary pre-test genetic counseling courtesy of Montefiore.

According to the PJGH, one of the primary goals of the new initiative, that also includes a research component, is to identify new BRCA mutation carriers in this “low-risk” group who otherwise would have gone undetected. Recent studies from Israel have reaffirmed that the 1 In 40 carrier rate in Ashkenazi Jews also applies to these low risk individuals, and suggest that the risks to develop cancer in BRCA carriers coming from both “low risk” and “high risk” families may be more equivalent than originally thought.

The ProcessInterested participants aged 25 and older who self-identify as Ashkenazi Jewish will begin by visiting the PJGH’s BRCAcommunity Study website (http://brcacommunitystudy.einstein.yu.edu/), where they can learn more about BRCA and the initiative, and then be directed to complete a detailed demographic form and personal/family history questionnaire. The PJGH’s genetic counselors will analyze all responses and assign each participant into one of two groups. Those who meet National Comprehensive Cancer Network (NCCN) testing criteria (“high risk”) will be offered comprehensive genetic counseling and BRCA genetic testing through standard-of-care insurance-based processes. These individuals will be scheduled for appointments at the PJGH’s clinical affiliate, the Division of Reproductive Genetics at Montefiore, or directed to the National Society of Genetic Counselors (NSGC) website to identify other available genetic counselors.

Individuals not meeting NCCN testing criteria will be considered “low risk” and invited for a group genetic counseling session which will be provided free-of-charge. After the session, those who would like to proceed with testing will submit a saliva sample that will be tested for the three common Ashkenazi Jewish BRCA gene mutations at the subsidized rate; this rate is thanks in part to a generous grant from the Foundation for Medical Evaluation and Early Detection.

When test results are available, all participants in either group who are found to be carriers will be scheduled for an in-person genetic counseling appointment to review their results. These individuals will be counseled about screening and risk-reducing and reproductive options, advised to inform their at-risk relatives about their genetic test results, and directed to support resources, in part through the network of the Program for Jewish Genetic Health. High risk participants who are not found to be carriers of the three common BRCA mutations will be counseled appropriately, including given the option to undergo more comprehensive genetic testing.

All individuals pursuing BRCA testing through this initiative also will be offered the opportunity to participate in an associated research study conducted through Montefiore and Einstein that will assess several parameters such as the motivation for “low-risk” individuals to undergo testing, receptivity of family members of BRCA gene mutation carriers to also undergo testing, and psychosocial, religious, and cultural issues faced by BRCA carriers.

The PJGH believes that this initiative is an initial step along the route towards making BRCA screening routinely offered to all adult individuals of Ashkenazi Jewish descent, as has been suggested recently by some geneticists. The PJGH-Montefiore initiative will target those who are ready now to learn their BRCA carrier status, based on the knowledge that being Ashkenazi Jewish is in and of itself a risk factor for carrying a BRCA mutation.

“Since BRCA mutations are so common in the Ashkenazi Jewish population, there is a very low threshold for individuals of Ashkenazi Jewish ancestry to be considered at risk for having a BRCA mutation,” says Klugman. “Unfortunately, most people do not realize this, and overlook not just their personal or family history of cancer, but also their Ashkenazi Jewish ancestry as being “not significant” when in fact, they both are. Our overall goal is to educate all Ashkenazi Jews about their risk factors for developing BRCA-related cancers, and when necessary, to offer them appropriate genetic counseling and testing so that they can make informed medical and reproductive decisions.”

About the Program for Jewish Genetic HealthThe Program for Jewish Genetic Health was established to help protect the health of the Jewish community and its future generations. The Program accomplishes this primarily through its genetic screening programs to test for BRCA mutations and Jewish genetic diseases that affect offspring (e.g., Tay-Sachs disease), its live and online educational programming focused on myriad Jewish genetic health issues – including its BRCAcommunity.com and MyJewishGeneticHealth.com platforms – and its resource and support center for the Jewish lay community and its leadership. For more information, visit http://www.einstein.yu.edu/centers/jewish-genetic-health/. Like us on Facebook, follow us on Twitter, and follow our Program blog, The Gene Scene.

About Montefiore Health SystemMontefiore Health System is a premier academic health system and the University Hospital for Albert Einstein College of Medicine. Combining nationally-recognized clinical excellence with a population health perspective that focuses on the comprehensive needs of the communities it serves, Montefiore delivers coordinated, compassionate, science-driven care where, when and how patients need it most. Montefiore consists of seven hospitals and an extended care facility with a total of 2,455 beds, a School of Nursing, and state-of-the-art primary and specialty care provided through a network of more than 150 locations across the region, including the largest school health program in the nation and a home health program. The Children's Hospital at Montefiore is consistently named in U.S. News' "America's Best Children's Hospitals." Montefiore's partnership with Einstein advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. The health system derives its inspiration for excellence from its patients and community, and continues to be on the frontlines of developing innovative approaches to care. For more information please visit www.montefiorehealthsystem.org. Follow us on Twitter; like us on Facebook; view us on YouTube.

About Albert Einstein College of MedicineAlbert Einstein College of Medicine of Yeshiva University is one of the nation’s premier centers for research, medical education and clinical investigation. During the 2014-2015 academic year, Einstein is home to 742 M.D. students, 212 Ph.D. students, 102 students in the combined M.D./Ph.D. program, and 292 postdoctoral research fellows. The College of Medicine has more than 2,000 full-time faculty members located on the main campus and at its clinical affiliates. In 2014, Einstein received $158 million in awards from the National Institutes of Health (NIH). This includes the funding of major research centers at Einstein in aging, intellectual development disorders, diabetes, cancer, clinical and translational research, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Its partnership with Montefiore Medical Center, the University Hospital and academic medical center for Einstein, advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. Through its extensive affiliation network involving Montefiore, Jacobi Medical Center—Einstein’s founding hospital, and three other hospital systems in the Bronx, Brooklyn and on Long Island, Einstein runs one of the largest residency and fellowship training programs in the medical and dental professions in the United States. For more information, please visit www.einstein.yu.edu, read our blog, follow us on Twitter, like us on Facebook, and view us on YouTube.

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