February 18, 2016
1 min read

Most patients at risk for Lynch syndrome not advised to undergo genetic testing, appropriate colonoscopy screening

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Individuals at risk for Lynch syndrome are not often being advised to undergo genetic testing and may not be getting colonoscopies at intervals recommended by current guidelines, according to study results.

Researchers collected data to determine patient knowledge of screening intervals among individuals meeting family history criteria for hereditary non-polyposis colorectal cancer (Amsterdam II criteria) who do not have CRC. The Amsterdam II criteria are used to identify patients at risk for Lynch syndrome

Study participants who met Amsterdam II criteria and were enrolled in the Family Health Promotion Project, a randomized controlled trial conducted to promote colonoscopy adherence in families at high risk for CRC, were recruited for this analysis. A total of 165 patients completed a baseline questionnaire evaluating their knowledge of genetic testing and risk-appropriate screening intervals based on individual risk. The questionnaire also assessed the uptake of genetic testing.

Overall, 90% of patients responded to the 24-month follow-up questionnaire and 55.2% responded to a supplemental questionnaire. 

The study showed that 98% of participants felt that family history and genetics play an important role in predicting risk for CRC. Moreover, 63% reported that they had heard of genetic testing, 31% reported that their doctor recommended genetic counseling and 7% had actually undergone genetic counseling.

In addition, 30% of patients reported that their endoscopists recommended 1- to 2-year colonoscopy screening intervals, whereas only 26% thought that they should be screened every 1 to 2 years with colonoscopy

“Individuals meeting Amsterdam II criteria are not often advised to have genetic testing and those who are have low uptake of genetic testing,” the researchers wrote. “Participants meeting Amsterdam II criteria have poor knowledge of appropriate screening guidelines, and their endoscopists do not appear to recognize their increased risk and typically do not recommend appropriate screening intervals.” – by Suzanne Reist

Disclosure: The researchers report no relevant financial disclosures.