Current Screening Standards May Miss BRCA Carriers with Significant Cancer Risk
Montefiore-Einstein’s Program for Jewish Genetic Health (PJGH) and the Division of Reproductive and Medical Genetics have a new study published in Genetics in Medicine that reinforces the value of screening for common BRCA mutations in the United States Ashkenazi Jewish population. Approximately 1 in 40 Ashkenazi Jewish individuals, whose family originated in Eastern and Central Europe, carry a mutation in a BRCA gene that is associated with a high risk for breast, ovarian and pancreatic cancers in women, and increased risk of breast, pancreatic and prostate cancers in men.
According to national guidelines, BRCA testing for Ashkenazi Jewish individuals is recommended only if there is a personal or family history of breast, ovarian or pancreatic cancer (i.e., those at high risk for having a BRCA mutation). For people without this history, BRCA testing is not considered a standard of care and is generally not covered by insurance. This causes concern since recent studies in Israel suggest the prevalence of BRCA mutations and the associated cancer risk may be comparable for Ashkenazi Jews with and without this family history.
The Montefiore-Einstein BRCAcommunity initiative was designed to accommodate people who were unable to access affordable screening due to a lack of personal or family history of BRCA-related cancers. In its pilot year, 101 “high risk” and 88 “low risk” individuals were evaluated for BRCA mutations, with 8 and 2 BRCA carriers identified in the groups, respectively.
“Our study findings confirm what leading geneticists have suggested for years, in that BRCA screening should be routinely offered to all interested adults of Ashkenazi Jewish descent,” said Susan Klugman, M .D., director, Reproductive and Medical Genetics, Montefiore and Albert Einstein College of Medicine. “If we followed current screening recommendations, some individuals would have undetected mutations and unknowingly be at significantly increased risk for cancer. By participating in this initiative, these individuals can take steps to reduce their risk and disclose this information to their relatives who also may be carriers.”
In addition to a need for updated testing recommendations, the study also identified the need for improved healthcare insurance coverage.
“Most people do not recognize their own cancer risk levels, whether that risk is based on family cancer history or ancestry,” said Dr. Klugman, who is also a Professor of Clinical Obstetrics & Gynecology and Women's Health at Einstein. “Going forward, in addition to general and provider education, more conversations are necessary to help guide conversations around the psychosocial, communal, and religious implications of identifying carriers and carrier families.”
The BRCAcommunity initiative was conducted in New York with the pilot study running from February 1, 2015 to January 31, 2016. Participants classified as “high risk” for a BRCA mutation had standard genetic counseling appointments and were offered appropriate genetic testing. Counseling and testing was conducted through typical health insurance models. Participants classified as “low risk” were offered subsidized BRCA founder mutation testing for $100 along with complimentary pretest genetic counseling.
The Montefiore-Einstein PJGH initiative is ongoing and will continue to accommodate anyone of Ashkenazi descent who wants to learn their BRCA status.
The subsidized testing was made possible in part by a generous grant from the Foundation for Medical Evaluation and Early Detection.