Abstract
Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.
Highlights
Fifteen to 20% of colorectal cancer (CRC) cases are related to familial or hereditary factors [1,2,3]
A detailed assessment of the family history for CRC can help to identify these patients. To judge whether they should be referred for genetic counseling, persons are generally tested against referral criteria, such as the Amsterdam II and the Revised Bethesda criteria [5,6,7]
Baseline demographic data between patients in the two strategies were similar, except for the number of patients who had a family history reported in the medical note of the first visit to the outpatient clinic; this number was higher with the intervention strategy (Table 2)
Summary
Fifteen to 20% of colorectal cancer (CRC) cases are related to familial or hereditary factors [1,2,3] These are mostly familial CRC (FCC), a family-history based diagnosis without a known genetic cause, and to a smaller extent the autosomal dominantly inherited Lynch syndrome, comprising 2 to 4% of CRC cases [1, 4]. Identification of these hereditary and familial factors in CRC patients provides an opportunity to engage in effective. In daily practice only 10–30% of patients at risk are referred for genetic counseling and for screening and surveillance recommendations [3, 8, 12,13,14,15,16,17]
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