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What are the risks and benefits of genetic testing for cancer?

Knowing about the presence of a BRCA1 or BRCA2 mutation can be lifesaving. There are many interventions that can increase the chance for early diagnosis and/or lower the chances for developing cancer. Men and women with a BRCA1 or BRCA2 mutation may:

  • Choose to start screening for breast cancer at age 25
  • Receive specialized breast screening that includes regular mammography and breast MRI
  • Participate in screening studies that offer cutting-edge technologies
  • Be screened for ovarian cancer
  • May choose to have ovaries or healthy breast tissue removed to reduce risk of developing cancer
  • Also be candidates for other specialized types of enhanced screening
  • Receive personalized medical recommendations for overall health
Dr. Gloria J. Morris, MD
Hematologist & Oncologist

Genetic testing for breast cancer involves a simple blood test, after meeting with a trained genetics counselor or health care provider with expertise in hereditary cancers, to first determine the likelihood of having inherited a gene mutation responsible for increased risk of breast cancer or other related cancers. The risks of genetic testing include the psychological stress of accepting, understanding, and assimilating the results into one's future health plans as well as that of one's immediate blood relatives: a positive result will further impact upon the need for specific risk-reduction strategies, i.e., preventive surgeries, preventive medicine, and on more frequent or additional screening test for cancers; a negative result may align one's overall risk with that of the general population, or based on other family history, may warrant search for other cancer-related gene mutations; or a result of undetermined significance, which can often be fraught with uncertainty for a client or family member and requires further classification by researchers over several months to years. 

Nevertheless, the benefits of genetic testing for breast cancer, specifically, are manifold in that strategies to reduce risk for those who harbor a positive result are indeed data-proven for their magnitude of impact. 

Genetic testing can provide empowering information over generations, and multiple avenues of support are available for those in the midst of making these life-impacting decisions.

Dr. David A. Fishman, MD
Gynecologic Oncologist

The most obvious benefit of genetic testing is that it may provide more information about an individual's cancer risk, thereby facilitating decisions about surveillance and prevention. Women who test positive for a BRCA1 or BRCA2 mutation should be offered earlier and more frequent screening for breast and ovarian cancer. These women are also candidates for chemopreventative options and prophylactic surgery. At this point in time, however, there are still many unanswered questions about cancer screening and prevention for high-risk women. For example, what is the remaining risk of cancer after prophylactic mastectomy or prophylactic oophorectomy among women with BRCA mutations? How does the use of exogenous estrogen affect cancer risk in this group of women? What is the relationship between hereditary susceptibility and environmental or lifestyle risk factors? While research continues to explore these questions, any woman considering genetic testing deserves the opportunity to discuss the current state of knowledge before making her decision.

There are many benefits, risks, and limitations of genetic testing other than the impact of the results on medical choices. For many individuals, their main reason for pursuing genetic testing may be to provide further information to their family members. An individual's anticipated emotional reactions to genetic testing results should also be explored prior to testing. Some may feel that determining the underlying cause of their own cancer or family history of cancer may be a relief, while others may be concerned that they will suffer excessive anxiety, fear or guilt if they receive a positive result. Still others may be concerned about how the information will affect relationships with their family members.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.