Genetic Counseling and Genetic Testing

Participants in the Mount Sinai Ovarian Cancer Risk Assessment Program receive a consultation with a board certified genetic counselor, who reviews the family history of cancer in detail and provides an estimate of the likelihood of hereditary susceptibility. Cancer risk assessment is a complicated process that should be performed by a physician or genetic counselor with special training in cancer genetics.

While some families will have histories that are clearly suggestive of hereditary cancer susceptibility, the pattern is less than clear in most families. Small family size, the presence of few female relatives, or relatives who have died young due to other causes are factors that may obscure signs of hereditary susceptibility, even if it is present. In addition, reports of cancer diagnoses among more distant relatives are notoriously inaccurate. For example, ovarian cancer may have been referred to as stomach cancer, or relatives may be aware of the site of cancer metastasis rather than the site of the original tumor. The genetic counselor in the Mount Sinai Ovarian Cancer Risk Assessment Program helps participants obtain medical records on family members and other necessary information that may be crucial to the overall risk assessment.

The genetics consultation that is a standard part of the Mount Sinai Ovarian Cancer Risk Assessment Program provides women with an estimate of their cancer risk and identifies individuals who may be appropriate for genetic testing for BRCA1 and BRCA2 mutations. Genetic testing is performed only after the potential benefits, risks, and limitations of testing are discussed at length. Whether or not to have genetic testing is ultimately up to each individual.

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.

Benefits, Risks, and Limitations of Genetic Testing

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.

Finally, genetic testing for cancer susceptibility is different from other medical tests in many ways. It may be most informative for a family member affected by cancer to have genetic testing first, to determine if a BRCA1 or BRCA2 mutation is even present in the family. A DNA alteration may be found through genetic testing that is of uncertain significance and should be interpreted with caution. Genetic tests are expensive and individuals may need guidance about obtaining insurance authorization. Many individuals have questions about the impact of genetic test results on insurability and the current status of legislation protecting against genetic discrimination.

The Mount Sinai Ovarian Cancer Risk Assessment Program provides the opportunity to discuss the numerous and complicated issues surrounding genetic testing with a board certified genetic counselor experienced in cancer genetics.

Contact Us

Mount Sinai Ovarian Cancer Risk Assessment Program
Tel: 212-241-1111