Twenty six years ago, a scientist by the name of Mary-Claire King reported the discovery of a gene, BRCA1, whose mutant forms increase the risk of breast and ovarian cancer. A second gene, BRCA2, which also is associated with increased risk of cancer, was identified a few years later.
The discovery of specific human genes linked to cancer promoted the development of genetic screening tests for those genes. The field has moved forward rapidly, raising the issues of who should be screened. And once someone is found to have cancer-associated genes, what can be done to reduce the risk?
These are particularly compelling issues for women of Ashkenazi Jewish descent, as BRCA mutations are found at a much higher frequency in that population. New recommendations on BRCA screening and their implications will be discussed at a webinar hosted by Sharsheret, an organization that provides services for young women of Jewish backgrounds who are dealing with breast and ovarian cancer. The webinar, scheduled for December 20 from 8 to 9 p.m., will include presentations by Peggy Cottrell, Sharsheret’s genetics program coordinator, and Shera Dubitsky, its director of navigation and support services.
According to the Centers for Disease Control, while one in 500 people in the U.S. general population has a cancer-related mutation in BRCA1 or BRCA2, one out of 40 Ashkenazi Jews carry such a mutation. About 50 percent of women with BRCA1 or BRCA2 mutations will develop breast cancer by the time they reach 70, compared with 7 percent of the general population; 30 percent of women with such mutations may get ovarian cancer by the time they are 70, compared with less than one percent of the general population.
In light of these numbers “it makes sense for all people of Ashkenazi Jewish ancestry to think about having testing done,” Ms. Cottrell said. Ms. Cottrell, who has been a genetic counselor for the last 14 years, has observed changes in recommendations as new discoveries are made and genetic mechanisms are better understood. The new recommendations, that all Ashkenazi Jews — men as well as women — be tested, are one example of such a change.
Ms. Cottrell explained that in the past, BRCA testing was recommended for families with a history of breast and/or ovarian cancer. “There seems to be more support from the experts” to test all Ashkenazi Jews, regardless of family history, “but we need financial support by the insurance companies,” she said.
Genetic tests can be expensive, so insurance companies may be reluctant to pay for them. Identifying women at high risk for cancer can lead to earlier and more effective treatments, however, and in the long run that reduces costs for health insurance companies and improves outcomes for patients.
One option for testing is offered by the program for Jewish genetic health at the Albert Einstein College of Medicine in the Bronx, which offers low cost BRCA testing and genetic counseling for people of Ashkenazi ancestry. According to its website, “The genetics team at Montefiore Medical Center, in conjunction with the Program for Jewish Genetic Health, is now offering BRCA mutation testing at a subsidized rate for interested individuals as part of a research initiative.” Participants must be 25 or older, have at least one Ashkenazi Jewish grandparent, and have not already been tested for BRCA mutations. A nominal fee of $100 is charged, which may be covered by insurance. (See http://einstein.yu.edu/centers/jewish-genetic-health/brca-community-study/)
Ms. Cottrell said that it is important to understand that BRCA testing is “screening for something that really has an impact on your life and your health. It’s not like testing for Tay Sachs or other recessive Jewish genetic diseases. It’s a much bigger deal.” Someone who carries a recessive form of a disease gene like Tay Sachs does not develop the disease. Couples in which both husband and wife carry the recessive gene are at risk of having a child with the disease, but through genetic counseling they can learn about options to help them have healthy children.
But because BRCA acts in a dominant fashion, a person testing positive for a BRCA mutation faces the lifelong issue of dealing with a higher risk of cancer. In this case knowledge is power, as BRCA positive people can make choices and take steps to significantly reduce the risks.
Ms. Cottrell said that direct-to-consumer genetic testing has led to people who have no family history of these cancers inadvertently discovering they have a BRCA mutation. “If they did [genetic testing] as a lark, but find something significant, it comes out of nowhere,” she said. Those people can be helped by the information. “If it’s not in your family history, you might be the first person to get breast cancer,” she said. “Those are the people we’re looking to help.”
Ms. Cottrell said that the webinar includes a presentation by Shera Dubitsky, a psychologist at Sharsheret, who will address the “psychosocial impact of someone who doesn’t have family history finding out they are a carrier.”
“The webinar is one component of our educational program,” Sharsheret’s executive director, Elana Silber, said. “There are 12 national programs, and we tailor programs to meet the needs of women who reach out to us.” Some examples of programs developed by Sharsheret include peer support programs, survivorship navigation, and programs for young parents with breast or ovarian cancer.
“We’ve had the opportunity to speak to thousands of women at increased risk or living with breast cancer in their family,” Ms. Silber said. “While Sharsheret’s target is the Jewish community, those outside the Jewish community are also reaching out to us. We are a national organization [with a mission to] share information with women across the country, if not across the world.”
Ms. Silber reported that the organization, founded by cancer survivor and visionary Rochelle Shoretz in 2001, has grown to three offices around the country, with headquarters in Teaneck and offices in Los Angeles and in Hollywood, Florida. It has 22 staff members, more than 8,000 volunteers, and more than 50 “partners on the ground,” including dozens of medical centers.
Sharsheret offers several webinars every year. “Topics are chosen based on feedback and suggestions from women in the programs,” Ms. Silber said. “We develop programs based on requests from women we are serving. We serve 65,000 women from all 50 states. We also partner with social service agencies.” In New Jersey, for instance, Jewish Family Service is a partner.
“Sharsheret’s Breast Cancer in Young Women project has received a stamp of approval from the Centers for Disease Control, as a premiere organization for young breast cancer survivors,” Ms. Silber said. The program serves as a role model for other communities, such as the “Sisters’ Network,” which addresses breast cancer in young African American women.
While Sharsheret’s mission is to serve younger women who are challenged by breast and ovarian cancer, Ms. Silber noted that “we define ‘younger’ loosely as active women, who are working, dating, raising families. Even older women are included, as we allow the women to self-define. We have women from their 20s to their 80s.”
Other upcoming Sharsheret programs include the National Sharsheret Pink Day, set for February 8. From 75 to 100 high schools and colleges participate, raising awareness in the schools and on campus about Sharsheret and breast and ovarian cancer.
What: A webinar, “BRCA Genetic Testing: Understanding the Physical, Emotional, and Financial Challenges”
When: Tuesday, December 20, from 8 to 9 p.m.
Who: Presented by Sharsheret, it will feature presentations by Peggy Cottrell, Sharsheret’s genetics program coordinator, and Shera Dubitsky, its director of navigation and support services. A question and answer session will follow.
To register: Go to www.sharsheret.org, call (866) 474-2774, or email
For more information: Email Sharsheret’s support program coordinator, Shira Kravitz, at email@example.com.
If you can’t make the webinar: After the live webcast, the presentation will be archived on Sharsheret’s website for future access.
Who funded it: Medivation, Inc., Myriad Genetics, Inc., and Cooperative Agreement DP14-1408 from the Centers for Disease Control and Prevention.
Dr. Miryam Z. Wahrman, the Jewish Standard’s science correspondent, is professor of biology at William Paterson University. Her recent book, “The Hand Book: Surviving in a Germ-Filled World” explores the historic, religious, and cultural roots of handwashing, explains how handwashing keeps you healthy, and provides handy tips to reduce the risk of infectious disease in the home, workplace, schools, and healthcare facilities. It is available on Amazon and at www.upne.com.