Point-of-care surveys on family history of colorectal cancer for individuals undergoing colonoscopy can identify people who would benefit from genetic evaluation, a study showed.

The feasibility and performance of two survey methods – one paper and one electronic – were evaluated to identify individuals at high genetic risk of colorectal cancer.

“Multiple studies have shown that family history assessments performed in primary care and in oncology and gastroenterology clinical settings are incomplete or inaccurate,” wrote Tannaz Guivatchian, MD , of the department of internal medicine at the University of Michigan Hospital, Ann Arbor, and coauthors. “There remains a need for targeted family history assessments to screen patients for hereditary cancer syndromes at point-of-care cancer screenings, such as colonoscopy.”

In the first cohort of the current study, a five-question paper survey was given to 600 patients after they had checked in for their colonoscopy, and the results were immediately given to the endoscopist performing the procedure. The second cohort of 100 patients took the paper survey and a more comprehensive tablet-based electronic survey ( Gastrointest Endosc. 2017;86[4]:684-91 ).

The paper survey alone identified 60 colonoscopy patients (10%) as high risk because they met at least 1 of the 10 genetic referral criteria. The retrospective chart review 60 days after the procedure showed that 32 patients (5.3%) were referred for genetic evaluation, 31 of whom met at least 1 of the 10 criteria for referral.

Of the patients picked up by the paper survey, 21 (35%) had documentation of a genetic evaluation. Seven of these had germline mutations that predisposed them to cancer, 10 had undergone genetic testing that did not find any pathogenic mutations, and 4 did not undergo genetic testing; 3 were lost to follow-up and 1 was in hospice.

The research team also sought feedback from 21 endoscopists about the paper survey. The majority (85%) found the risk assessment tool helpful, with nearly three-quarters of them (71%) saying that it influenced their surveillance recommendations and 28.5% saying it prompted them to refer the patient for genetic evaluation.

In the second cohort, 9 of the 100 patients were found to be high risk but meeting at least 1 of the 10 criteria on the paper survey and/or achieving a PREMM1,2,6 score – a tool for assessing the likelihood of mutations associated with Lynch syndrome – of 5% or higher.

Of these nine patients, six were flagged for genetic evaluation based on the results of the paper survey, and three were picked up by the electronic survey. Three were referred for genetic evaluation.

An additional patient was also flagged for genetic evaluation after a review of the patient’s electronic medical record picked up information that the patient did not provide in either the paper or electronic survey.

In this second phase of the study, researchers found that only 73% of the patients approached were able to successfully complete the electronic survey before their procedure. The team had also mailed letters to 500 patients who invited them to complete the electronic survey at home before their colonoscopy appointment, but only two patients did so.

“Although several family history surveys and CRC [colorectal cancer] risk assessment tools have been published in the literature, operationalizing cancer risk assessments in busy clinical settings has been a consistent barrier to implementation,” the authors wrote. “Our results using both electronic and paper-based tools demonstrate that collection and review of family history information is feasible in the outpatient colonoscopy setting and provides physicians with information for CRC risk assessment that is immediately relevant to patient care.”

The authors stressed that while the short paper survey could be filled out quickly, and had a near 100% completion rate, the more comprehensive electronic survey provided a more complete family cancer history, which would help clinicians identify patients needing genetic evaluation. They also pointed out that each survey method identified patients not picked up by the other method.

The study was supported by the National Cancer Institute. No conflicts of interest were declared.


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