Not Asking Enough Questions: Low Rates of Recommending and Receiving Genetic Testing in U.S. in Those at Risk for Lynch Syndrome

Douglas K. Rex, MD, FASGE reviewing Faust N, et al. Gastroenterology 2019 Dec 6.

The National Health Interview Survey is conducted every 5 years and includes questions on genetic testing. In this study, responses from 2005, 2010, and 2015 were evaluated according to whether subjects had 0, 1, or ≥2 Lynch syndrome risk factors. There were 92,257 persons who completed all the genetic questions over the 3 surveys. Patients with 1 Lynch risk factor reported rates of discussion, recommendation, and receipt of genetic testing of about 6%, 3%, and 2%, respectively. For those with ≥2 risk factors the rates were about 12%, 8%, and 6%, respectively.

Recommendations were more likely in persons <50 years old, in those who perceived themselves at greater risk of colorectal cancer, and in the Northeast compared to the Midwest. Rates at which respondents reported discussion, recommendation, and receipt of genetic testing increased by 3% to 4% between 2005 and 2015.

Although awareness of risk appears to be slowly increasing, these findings underscore the continued need for public and physician education about Lynch syndrome and the benefits of increased use of genetic testing.
Note to readers:
At the time we reviewed this paper, its publisher noted that it was not in final form and that subsequent changes might be made.

Douglas K. Rex, MD, FASGE
Bio and Disclosures

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Faust N, Muller C, Prenner J, Lee SM, Kupfer SS. Low rates of genetic counseling and testing in individuals at risk for Lynch Syndrome reported in the National Health Interview Survey. Gastroenterology 2019 Dec 6. (Epub ahead of print) (