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Should You Consider Genetic Counseling and Testing?

by Ellen T. Matloff, MS, CGC, and Karina L. Brierley, MS, CGC

Knowledge image

Genetic counseling and testing have become integral tools in the fight against cancer. The results can provide important informa­tion to help guide appropriate surgical decisions, treatment, surveillance, and prevention strategies for an individual and his or her entire family. Awareness and availability of cancer genetic coun­seling and testing, criteria for insurance coverage of testing, and available test­ing options have expanded rapidly in the past decade. Therefore, even cancer survivors who did not previously have the chance to undergo genetic counsel­ing and testing, or who tested negative in the past, may now be candidates for these services.

What is genetic counseling?
Genetic counseling is a communication process with a board-certified genetic counselor that involves a thorough investigation of your personal and family medical history to assess the likelihood that the cancers in your family are due to a genetic muta­tion (change in the genetic code) and help determine if you are a good candidate for genetic testing. A genetic counselor can also help deter­mine which testing options would be the most appropriate – there are numerous genes associated with cancer risk and many testing options – and if your insur­ance will likely cover the cost of testing. He or she can discuss the risks, benefits, and limitations of testing and the medi­cal options available to individuals who carry a genetic mutation. The genetic counselor will also interpret your test results, discuss your medical options based on the results, assist you in relay­ing this information to your medical team, and provide resources and support for you and your relatives.

Author of Article photo

Ellen Matloff

Who should consider genetic counseling?
Most cancers are not due to a single hereditary mutation. How­ever, there are a number of risk factors that increase the chance that cancer is hereditary:

♦ Early age of cancer onset When certain cancers are diagnosed at an early age (for example, breast, colon, or uterine cancer before age 50, or kidney cancer before age 46), it in­creases the chance that the cancer is hereditary.
♦ Multiple family members with the same cancer If several relatives on the same side of the family have all had the same type of cancer, it increases the chance that these cancers are hereditary.
♦ Clusters of cancers caused by the same genetic mutation If relatives on the same side of the family have differ­ent cancers that are known to be caused by the same genetic mutation (for example, diagnoses of breast, ovarian, and pancre­atic cancers or colon, uterine, and ovarian cancers), the chance that the cancers are hereditary is increased.
♦ Multiple primary cancers diagnosed in one person If a single person devel­ops more than one primary cancer (as opposed to one cancer that has spread to other parts of the body), particularly if those cancers fall into the clusters described above, it increases the likeli­hood that the cancers are hereditary.

Author of Article photo

Karina Brierley

♦ Ethnicity Some genetic diseases are more common in certain ethnic back­grounds. For example, hereditary breast and ovarian cancer is more common in people of Jewish ancestry.
♦ Unusual presentation There are several uncommon cancers (like male breast cancer) and findings (such as dozens of colon polyps) that are more often hereditary and warrant a referral to a genetic counselor.
♦ Pathological findings In some cases, pathology is a critical tool in genetic risk assessment. Certain subtypes of cancer are more likely to be hereditary (for example, triple-negative breast can­cers). Pathology can also determine which hereditary cancer syndrome is more likely to be the cause of a par­ticular cancer.

Why would I want this information?
Some cancer survivors wonder why they would want genetic counseling and test­ing if they have already had cancer, and some worry that it will feel like opening Pandora’s Box. However, genetic coun­seling and testing can help you to prevent a future cancer and arm your relatives with important knowledge that can help them avoid developing cancer.

Do I really need to see a genetic counselor? Can’t I just have testing through a direct-to-consumer testing company or have my doctor order it?
In order for genetic testing to be benefi­cial, the correct, validated test must be ordered through a clinical laboratory, results must be interpreted accurately, and the appropriate medical recommen­dations must be made. The genetic tests offered through direct-to-consumer companies are often classified as “enter­tainment” rather than for clinical use and may not meet these standards. Many cases of errors resulting in unnecessary surgery and advanced cancer diagnoses have been reported when testing was not accompanied by counseling through a certified genetics professional. Be­cause this testing may be critical for you and your entire family, it is essential that you work with a provider who has grad­uate training and certification in genetics.

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Ellen Matloff is a research scientist in Genetics and director of Cancer Genetic Counseling, and Karina Brierley is a genetic counselor, both at Yale Smilow Cancer Center at the Yale School of Medicine in New Haven, CT.

To find a genetic counselor in your area, visit the National Society of Genetic Counselors website, For telephone-based genetic counsel­ing services, you can contact InformedDNA at (800) 975-4819, or visit for more information.

This article was published in Coping® with Cancer magazine, May/June 2014.