Many people are uncertain about whether to pursue genetic testing for cancer risks. For individuals of Ashkenazi Jewish descent, this question is especially relevant, as they have a significantly higher likelihood of carrying BRCA gene mutations compared to the general population. Approximately one in 40 Ashkenazi Jews carries a BRCA1 or BRCA2 mutation, which can increase susceptibility to hereditary breast and ovarian cancers, as well as other cancers such as pancreatic, prostate, melanoma, and rarely acute myeloid leukemia.
Genetic testing goes beyond looking for just BRCA mutations. It examines dozens of genes that could elevate cancer risk. As explained by a patient who underwent such testing after her mother was diagnosed with ovarian cancer: “The actual process of genetic testing was easy: My doctor’s assistant swabbed my cheek and sent the sample away for testing. Several weeks later, my doctor and I had a telehealth appointment to go over my results. Analysis of more than 60 genes – that have variants known to increase the risk of at least 12 types of cancer – had revealed no known or likely cancer markers.”
However, having no detectable genetic markers does not mean regular screenings should be skipped. Only an estimated 5–10% of all cancers are hereditary; most cases do not involve identifiable genetic risks. Regular screenings such as mammograms, ultrasounds (for women with dense breasts), skin checks for skin cancer, Pap smears for cervical cancer, and colonoscopies beginning at age 45 remain essential preventive measures.
The experience shared in the article illustrates that even those without family history or known genetic markers can develop cancer. In this case, early-stage invasive ductal carcinoma was detected through routine screening three years after normal genetic test results.
For those found to have elevated risk due to genetics or family history, additional information from genetic tests can influence screening plans—such as starting certain tests earlier than usual or increasing their frequency—and may guide lifestyle recommendations aimed at reducing controllable risks.
Specialized clinics like Sylvester’s Eileen Youtie Genetic Predisposition Syndrome clinic provide coordinated care for people with heightened risk due to genetic mutations. “The Genetic Predisposition Clinic is the first of its kind, focused on previvors – someone who has an elevated predisposition for cancer due to a risk running through their family – as well as cancer survivors,” said Carmen Calfa, M.D., medical director at the clinic. “It’s a comprehensive and coordinated program offering emotional and psychosocial support, genetic testing, personalized care plans, navigation through high-risk clinics, and access to cutting-edge research. It’s all designed around prevention, risk reduction, early detection and improving outcomes.”
Risk-reduction strategies may include medication use (such as tamoxifen), surgeries like bilateral mastectomy or oophorectomy (removal of ovaries), and intensified surveillance schedules—for example every six months instead of annually—to enable earlier detection.
Lifestyle interventions also play a role in managing inherited risks. At Sylvester’s Prevention Lifestyle Medicine Clinic patients receive tailored programs covering exercise routines, dietary advice and sleep hygiene guidelines. According to Tracy E. Crane, Ph.D., RDN: “Evidence suggests that modifiable behaviors, like following a healthy diet pattern, can attenuate overall cancer risk even for individuals with genetic predispositions.”
Support services are available both within specialized clinics and through organizations such as Sharsheret that connect individuals facing similar challenges.
Some people choose to encourage relatives—especially those sharing ancestry associated with higher mutation rates—to seek guidance about possible benefits from testing themselves so they can make informed decisions about screening plans or preventive measures.
While concerns about privacy or fear over potential findings may arise when considering whether to get tested for hereditary cancer risks it is recommended that individuals consult their healthcare providers regarding personal risk profiles before deciding on next steps.
Resources like Sylvester’s cancer risk questionnaire and the National Cancer Institute’s Breast Cancer Risk Assessment Tool offer ways for people to begin evaluating their own level of risk.
