Lynch Relatives Show Poor Awareness of Need for Monitoring

By Laura Newman

March 14, 2016

NEW YORK (Reuters Health) - In a recent study, few patients whose families met clinical criteria for hereditary non-polyposis colorectal cancer had undergone genetic testing, and only a small percentage of their doctors had given them appropriate screening recommendations.

"We need to expand educational efforts to this high-risk population to learn what the barriers are to getting care and must target health care providers as well," coauthor Dr. Jan T. Lowery told Reuters Health in a telephone interview. "We are talking about cancers that can be prevented with recommended stepped-up screenings. We are missing important opportunities."

The Amsterdam II family history criteria for hereditary non-polyposis colorectal cancer (HNPCC) include having three biological relatives with colorectal cancer or another Lynch-associated cancer who are linked through a first-degree relative; at least two consecutive generations affected; and one cancer diagnosis before age 50.

For patients who satisfy Amsterdam II criteria, clinical practice guidelines from several groups advise offering genetic counseling and testing for Lynch syndrome mutations. For high-risk individuals who have not had genetic testing, colonoscopy is recommended every one to two years beginning no later than age 25.

The research team, led by Dr. Lowery and Dr. Swati G. Patel, both from the University of Colorado, Aurora, surveyed participants in the multicenter Family Health Promotion Project, which is designed to promote colonoscopy screening in members of high-risk colorectal cancer families. All enrollees were colorectal-cancer-free first-degree relatives of affected patients.

Enrollees were randomly assigned to an intensive tailored telephone plus mailed counseling arm or to a control group, which received only mailed information about the importance of screening.

As reported online February 9 in the American Journal of Gastroenterology, 165 participants completed the baseline questionnaire and 90% responded to a 24-month follow-up questionnaire.

At baseline, 98% of participants acknowledged that genetics or a family history of CRC were important or very important in predicting future risk of colorectal cancer, and 63% had heard of genetic testing for CRC, but only 31% recalled being advised by a medical provider to undergo genetic testing and only 7.3% had done so.

By the end of the study, "only 26% of participants reported that they thought they should have colonoscopy every 1-2 years, and 30% of endoscopists for these participants recommended 1-2-year follow-up colonoscopy," the research team reported.

There was a 65% concordance between endoscopist recommendations and participant reports regarding screening intervals.

There was, however, no difference between recipients of telephone counseling plus tailored follow-up letter and recipients of the letter with general screening information in the proportion who knew the appropriate screening interval (26 vs. 25%, respectively), "despite the fact that the telephone intervention strongly emphasized the importance of colonoscopy every 1-2 years," the authors reported.

Of the 91 participants who completed a supplemental questionnaire after the study was over, 24.2% reported having ever discussed genetic testing with their treating physicians - and a third of those said they had raised the issue themselves.

Going forward, Dr. Lowery told Reuters Health, "We really need a two-pronged approach that includes systematically collecting complete family histories and simplifying the referral process for genetic counseling and testing."

In addition, she said, provider education is critically important provider for improving the uptake of screening and genetic referrals.

Dr. Afsaneh Barzi of the University of Southern California Norris Comprehensive Cancer Center, Los Angeles, told Reuters by email, "These findings are consistent with previously published research. Amsterdam criteria are not sensitive enough for identification of patients with Lynch syndrome or HNPCC. However, they are very specific and subjects who meet Amsterdam criteria have a high likelihood to be mutation carriers and thus need to be educated on the importance of screening."

The National Cancer Institute and a number of other organizations supported this research.


Am J Gastroenterol 2016.