As our understanding of the relationship between genetics and cancer increases, UCLA Health has expanded efforts to identify patients who could benefit from genetic screening specific for cancer risk, and to make testing and counseling services more broadly available.
Beth Karlan, MD, vice chair of women’s health research in the UCLA Department of Obstetrics and Gynecology and director of cancer population genetics at the Jonsson Comprehensive Cancer Center, explains that patients who might benefit from cancer genetic tests include many cancer survivors, patients newly diagnosed with certain cancers and those whose ancestry places them at higher risk for carrying mutations in genes related to cancer susceptibility.
While many people could benefit from cancer genetic services, “few are receiving them,” Dr. Karlan says. “We want these individuals to have conversations with their health care providers about available testing that could have implications for their own health and health care, as well as for preventive opportunities for family members.”
The U.S. Preventive Services Task Force (USPSTF) recommends that primary care clinicians conduct a risk assessment of their female patients who have either a family or personal history of breast, ovarian, tubal or peritoneal cancer, or who have ancestry associated with BRCA1 and/or BRCA2 gene mutations, to determine whether or not they should be referred for genetic counseling and, if indicated, genetic testing. Women who test positive for a BRCA gene mutation have a substantially higher lifetime risk of developing breast or ovarian cancer, and they can work with their health care provider to manage that risk, as well as recommending that first-degree relatives be tested.
Inherited risk doesn’t recognize gender, and an assessment of both women and men who have a personal/family history of cancer ensures that all would benefit from genetic counseling referral.
“Thankfully, less than one percent of women have these mutations, but for those who are at risk, it’s very important that they get screened,” says Carol Mangione, MD, MSPH, the Barbara A. Levey, MD, and Gerald S. Levey, MD, Endowed Chair in Medicine and a member of the USPSTF panel that issued the recommendation.
Dr. Mangione notes that the USPSTF guidelines, which were revised this past summer, expand the population of women who should be assessed for potential BRCA1 and BRCA2 testing beyond the previous recommendation, which focused on women with a family history of breast or ovarian cancer. The pool now also includes diseasefree breast cancer survivors, many of whom haven’t previously considered testing for BRCA1 and BRCA2 mutations, as well as women with ancestries that put them at greater risk, including women of Ashkenazi Jewish descent, where the prevalence of the BRCA mutations is 2-to-3 percent.
Risk from BRCA mutations is not limited to women; men are at equal risk of carrying one of these mutations. A BRCA gene mutation is associated with increased risk of several types of cancers, including breast cancer in both men and women, prostate cancer, ovarian cancer, pancreatic cancer and melanoma, among others.
UCLA is part of a national multicenter research initiative to increase access to testing for BRCA. The BRCA Founder Outreach (BFOR) initiative is open to men and women ages 25 or older, with at least one Ashkenazi Jewish grandparent, who haven’t previously been tested. Interested participants complete an online consent and are directed to a nearby laboratory to have their blood drawn. Their results are shared by their primary care provider.
“Democratizing access to genetic testing provides knowledge that can reduce cancer risks and improve outcomes for those with a BRCA mutation,” Dr. Karlan says.
Beyond the BFOR initiative, UCLA is expanding its cancer genetic services to any UCLA Health patient who meets national guidelines for cancer genetic testing — a group that includes many patients diagnosed with cancer, many cancer survivors and healthy individuals who have never been diagnosed but are in highrisk groups. For people who are healthy, a positive genetic test can lead to more frequent cancer screenings or, in some cases, prophylactic or risk-reducing surgery. For cancer patients, knowledge of a particular mutation can influence the therapeutics used in treatment.