A new program at Yeshiva University’s Albert Einstein College of Medicine and Montefiore Health System in the Bronx is offering affordable genetic testing for the Ashkenazi Jewish BRCA cancer mutations.
Anyone who is of Ashkenazi Jewish descent, with at least one Ashkenazi Jewish grandparent, is eligible for the testing for a modest fee of $100.
For many years the recommendations to test for the gene were based on family or personal history of breast or ovarian cancer. But a research study recently revealed that in the Ashkenazi Jewish population, the risk of harboring BRCA cancer genes is high whether or not there is a family history of breast and ovarian cancer.
One in forty Ashkenazi Jews carry genetic glitches in their BRCA1 or BRCA2 genes that elevate the risk of breast and ovarian cancer to as high as 80 percent by the time they are 80 years old. In fact, the landmark study of randomly selected Ashkenazi Jewish men in Israel found that “51 percent of families…harboring BRCA1 or BRCA1 mutations had little or no history of relevant cancer.”
Efrat Gabai-Kapara and the 15 co-authors who published this report in the prestigious journal PNAS – Proceedings of the National Academy of Sciences – recommended that all Ashkenazi Jews above the age of 25 be screened for these mutations, regardless of family history of cancer.
An op-ed written by three of the co-authors presents the argument for genetic screening, emphasizing that finding out if the mutation is present gives the opportunity to reduce risk and to detect cancers early, while they still are treatable. The World Health Organization has established criteria for population screening: That these cancers pose a serious health burden, that there is reliable information that these mutations raise the risk of cancer, and that “effective interventions exist.” Because BRCA fulfills these criteria, authors Mary Claire-King (who discovered the BRCA genes), Ephrat Levy-Lahad, and Amnon Lahad conclude in their JAMA Viewpoint piece, “Women do not benefit by practices that ‘protect’ them from information regarding their own health. They should have the choice to learn if they carry an actionable mutation in BRCA1 or BRCA2.” (JAMA is the Journal of the American Medical Association.)
The new Einstein/Montefiore program, which is supported by donations from New York real-estate financier Michael Stoler, is being run by the Program for Jewish Genetic Health. Bruce Lander, the program’s executive director, said that “one of our mantras is ‘knowledge is power.'” He said that it is important to have access to “information to protect you, and to protect your children.”
Mr. Lander, 44, a father of three who lives in New City, N.Y., is considering having the genetic testing himself. He explained that his grandfather had cancer when he was 50. Although Lander’s mother and aunt never developed the disease, he said, still, “I could be at high risk.” Mr. Lander said his colleagues at Montefiore who attend genetics conferences have heard speculations that within ten years every baby will have its entire genome sequenced – that is, there will be full genetic disclosure. “How much is too much knowledge?” Mr. Lander pondered. “We’re not here to tell you what to do, but we are making it available and affordable for those who want to be tested.”
Chani Wiesman is one of the genetic counselors working at the program. She reported that this type of program has been established in Canada, Israel, and most recently England. The Einstein/Montefiore program differs from the others in that the other countries have socialized health care, so their testing is free, rather than subsidized. She said that even the $100 charge may be a barrier for prospective patients. In Toronto, Ms. Wiesman reported, they had two to three thousand responses within a few days of opening. The response rate at the Bronx-based program so far has been more modest.
BRCA testing for the three Ashkenazi Jewish BRCA mutations can cost up to $600 for an uninsured person. “If you have any family history, the insurance company will pay for the testing,” said Peggy Cottrell, a genetic counselor at Holy Name Medical Center in Teaneck. Talking about testing all Ashkenazi Jews, she noted that “there are definitely people out there who would worry about this and want to find out if they’re at risk, but it’s not something that I would tell people they should or shouldn’t do.” Ms. Cottrell reported that Dr. Mary Claire King has recommended BRCA testing for the entire general population. “That is more controversial,” Ms. Cottrell said. “Some in the scientific community disagreed with her, because the cost would outweigh the benefit.” Since there could be many BRCA mutations in the more diverse general population, the cost of screening for all the versions of the gene can be significantly more expensive. In the Ashkenazi Jewish lineage there are only three main versions of BRCA mutated genes – three “founder genes” that increase the risk of cancer, and which were passed down from generation to generation for hundreds of years. “In the Jewish community there is a higher chance of finding [the genes] with less cost,” Ms. Cottrell said.
Anyone of Ashkenazi Jewish descent, 25 years old or older, who wants to be tested for the Ashkenazi Jewish BRCA1 and BRCA2 mutations can go to the program’s website, at brcacommunitystudy.einstein.yu.edu, and apply to be tested. The family history questionnaire helps to evaluate who is in the high-risk category, based on incidence and types of cancer in the family, as defined by National Comprehensive Cancer Network criteria. The NCCN guideline defines as at high risk anyone who is an Ashkenazi Jew with at least one family member, a first or second degree relative, who has had breast or ovarian cancer at any age. First or second degree relatives include mother, sister, aunt, grandmother, daughter, and grandchild. Those judged to be high risk are offered comprehensive one-on-one genetic counseling and testing.
On the other hand, applicants who do not have family history of relevant cancers, and are rated as low risk, are invited to attend a free group genetic counseling session where they will learn about the genetic foundations for cancer and how hereditary breast and ovarian cancer are transmitted. “In Israel and Canada they did not do group counseling for the low risk patients, they handed out materials,” Ms. Wiesman said. “We think people need to be prepared to learn the information.”
The group counseling session is an opportunity to educate patients. For instance, they are told that most of the time cancer does not have a hereditary basis, that the BRCA mutations are rare in the general population but more common in Ashkenazi Jews, and that if someone tests positive for a mutation there is a 50 percent chance of passing it to offspring. There is also a 50 percent chance for a sibling of a person with the mutation to test positive for it. “Some families without a lot of cancer cases in their family may have the BRCA mutation,” Ms. Wiesman said.
The test is done using a saliva sample, and anyone who tests positive for a BRCA mutation is brought in for one-on-one counseling. The program will recommend specialists to follow up, and to develop a plan that will be best for each person.
It is important to note that the prognosis for people with BRCA mutations varies widely, Ms. Wiesman said. “If there are five women with BRCA mutations, one or two may develop breast cancer and the others may be in their eighties without cancer.” How, she asked rhetorically, can it be that there are such differences between cases? “There are researchers out there trying to answer that question.”
About 5 to 10 percent of responders so far have been men. Men with BRCA mutations also have a higher risk of breast and other cancers, and can pass down the gene to their children.
“From my perspective, creating more awareness in the Ashkenazi Jewish population will bring in people who are in fact high risk,” Ms. Wiesman said. “In the last few weeks, 80 percent of people who signed up were high risk, based on NCCN guidelines. We ask ourselves, why haven’t they come in sooner? Some have very significant family histories of breast cancer.”
Ms. Wiesman, 30, who lives in Riverdale, N.Y., and is the mother of a 4-month-old son, said that she herself is not from a high risk family, so she has decided not to get tested at this point. “I feel like I do not need to know right now,” she said. “Even though I advocate for the ability for people to do testing in my own work, personally I am not an information seeker in that way. During my pregnancy, I didn’t opt to do every genetic test out there.
“The benefit of the genetic counseling process in low-risk patients is that you don’t have to get the test,” she noted. “I have plenty of patients who meet with me and decide that now is not the right time. The one thing important for the community to recognize is that people who come from high-risk families, once they turn 25, if they don’t want to get testing, that’s fine. But they should get screening as if they are at high risk. And the insurance companies should cover high-risk screening. We treat people as if they’re positive until proven otherwise.”
Ms. Wiesman noted that women who test positive can reduce the risk by increased surveillance through mammograms and breast MRIs, and by risk-reducing surgeries. The NCCN guidelines for screening high-risk women includes getting an annual mammogram or breast MRI from the time they are between 25 and 29. After they turn 30, recommendations include a semiannual screening, alternating mammograms and breast MRIs, every six months. In addition, high-risk women should consider transvaginal ultrasound and CA125 blood tests every six months. Those tests are designed to detect ovarian cancer, although they have not been proven to detect ovarian cancer at an early and treatable stage.
“The decision of whether or not to get testing is made by the patient,” Ms. Wiesman said. “I just want people to get the right care.”
The Program for Jewish Genetic Health runs screening programs to test for BRCA mutations as well as Jewish genetic diseases that affect offspring, including Tay-Sachs and Canavan disease. Informative websites sponsored by the program include www.BRCAcommunity.com, and www.MyJewishGeneticHealth.com. For more information go to www.einstein.yu.edu/centers/jewish-genetic-health.
For testing, go to brcacommunitystudy.einstein.yu.edu