Genetic counseling, testing not common in people at risk for Lynch syndrome

Last Updated: 2019-12-17

By Reuters Staff

NEW YORK (Reuters Health) - Only a minority of people with risk factors for Lynch syndrome undergo genetic counseling and testing, although the rate has increased over time, according to new findings.

Younger individuals and those who perceived themselves to be at higher risk of colorectal cancer (CRC) were more likely to report discussion and recommendation of genetic testing, Dr. Sonia S. Kupfer of The University of Chicago and colleagues found.

Lynch syndrome increases the risk of CRC and other cancers, and often goes undiagnosed, Dr. Kupfer and her team write in Gastroenterology. Better recognition of Lynch syndrome is a priority for Healthy People 2020, they add.

They reviewed National Health Interview Survey (NHIS) cancer supplements for 2005, 2010 and 2015 on more than 92,000 individuals who answered all survey questions on genetic testing.

No Lynch syndrome risk factors were reported by 97.4%, 2.3% had one Lynch-syndrome risk factor and 0.3% had two or more. Having at least one first-degree relative who developed CRC or endometrial cancer before age 50 was the most commonly cited National Comprehensive Cancer Network (NCCN) risk factor for Lynch syndrome.

Discussion of genetic testing was reported by about 2% of those with no Lynch syndrome risk factors, 6% of those with one risk factor and 11% of those with two or more risk factors.

Recommendations on genetic testing were reported by 3% of those with one risk factor and around 8% of those with two or more risk factors, while 2% of people with a single risk factor and about 7% of people with two received genetic testing.

Among people with at least one Lynch syndrome risk factor, those who were under 50 were about twice as likely as older individuals to report having discussed and received a recommendation for gene testing.

Gene-testing rates were higher among people living in the Northeast, followed by the West, South, and Midwest.

"Targeted interventions for increasing rates of discussion and testing in at-risk individuals should include efforts to increase patient awareness and capacity for self-advocacy," Dr. Kupfer and colleagues write. "Improved awareness and education among healthcare providers is also needed given the importance of provider recommendation for uptake of genetic evaluation and testing."

SOURCE: https://bit.ly/35FTfKB Gastroenterology, online December 6, 2019.