The creation of at-home or direct-to-consumer (DTC) genetic testing has made genetic testing more accessible and popular. In 2017, the number of people who had their DNA analyzed through DTC testing more than doubled, exceeding 12 million. In exchange for a spit sample or a cheek swab, DTC companies can give someone information about their ancestry, interesting physical traits, or determine their genetic health risk for various diseases. Some companies, like 23andMe, can even provide information about a person’s risk for breast, ovarian, and prostate cancers.
This latest type of genetic testing information in the DTC context has been controversial. The FDA recently approved the process by which 23andMe can provide limited results on the BRCA1 and BRCA2 genes, two genes that have been linked to hereditary cancer risk, directly to consumers without the involvement of a healthcare provider.
But after these results get dropped in their laps, consumers are left with more questions than answers. What happens next?
“For those who pursue DTC on their own, the onus often falls on the consumer or patient to navigate the complicated implications of genetic testing,” says Erica Blouch, MS, LCGC, a senior genetic counselor with Massachusetts General Hospital’s Center for Cancer Risk Assessment.
DTC testing might be able to tell you an approximate risk to develop a certain type of cancer based on their genetic technology. However, the company does not provide personalized information for preventative measures or possible treatment options, which would help the individual interpret the information and make it more meaningful. There’s also no addressing the emotional toll that comes with these results.
“Not having a healthcare provider involved in the process can lead to a lack of proper follow-up for both medical and psychosocial needs after testing,” says Renee Pelletier, MS, LCGC, a CCRA genetic counselor.
Below, CCRA Director Kristen Shannon, MS, LCGC, answers to the most common questions about genetic cancer risk.
At the CCRA, both Blouch and Pelletier work with patients concerned about their family history with cancer to provide their clinical genetic testing, screening, and support. As certified and licensed genetic counselors, they can offer all the right resources for these highly sensitive situations.
“The genetic testing ordered at the CCRA can be different from DTC tests in terms of technology and information that will be returned, and is also more comprehensive if someone is concerned about their cancer risk,” says Blouch. “We can collect a full personal and family history, including the collection of medical records if needed, which can help ensure that the most appropriate test is ordered for a patient’s needs.”
Blouch says the CCRA creates a personalized medical care plan for patients based on genetic testing results, whether normal or abnormal, and provides follow-up referrals with cancer and genetics experts when necessary. Options for care can include ongoing surveillance and monitoring, immediate action and treatment, prophylactic surgery and follow-up, genetic counseling and testing for family members, and/or access to the Mass General Fertility Center’s Preimplantation Genetic Diagnosis Program.
For patients who already completed DTC genetic testing and have further questions on their cancer risks, a CCRA counselor meets with them one-on-one to review the results and discuss the next course of action.
“A counselor will assist in confirming those results, whether normal or abnormal, with a clinically-approved genetic test,” says Blouch. “We have created resources for learning more about other DTC results, such as ancestry analysis, and can refer to genetic counselors who specialize in DTC testing.”
Whether you want to pursue genetic testing for the first time or you need help analyzing your at-home cancer test results, the CCRA is available for all inquiries and to help guide you through your next steps. If you haven’t received DTC testing, but are still considering purchasing a test, Pelletier says to think about your goals and seek advice from an expert as needed.
“The importance of genetic counseling in relation to DTC tests mostly depends on the reason a consumer is pursuing genetic testing,” she says. “Given the many nuances of DTC testing, we encourage consumers to think about the purpose, aim, and usage of these tests carefully.”
For more information on genetic counseling, visit massgeneral.org.
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