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Background Five percent of colorectal cancers are attributable to hereditary syndromes for which genetic testing is clinically available. Effective surveillance strategies and riskreducing surgeries lower risk for people diagnosed with inherited colorectal cancer syndromes. However, from a public health standpoint, the existence of effective interventions is futile if not applied broadly and appropriately to the population at risk. Efficient identification of people with hereditary risk remains a challenge, and failure to systematically identify people at high hereditary risk results in preventable morbidity and mortality. The William C. Bernstein M.D. Familial Cancer Registry (Bernstein Registry) is a research-based program that triages participants for hereditary cancer risk. Selfreported family histories are assessed and participants are given tailored information about their hereditary risk factors. People at high risk are given information about the availability and advisability of clinical genetics services. Pilot populations are being enrolled to establish registry processes and determine the feasibility of implementation at a population-based level. This pilot group includes volunteers from a previously established colorectal cancer registry. Materials and methods A 7-item screening questionnaire determines potential eligibility for the Bernstein Registry using elements of early onset, multiple primary and family history of cancers. Potentially eligible participants are contacted by telephone and a four-generation cancer history is generated via guided interview. Pedigrees are analyzed by genetic counselors for hereditary cancer risk probabilities based on published guidelines. Targeted, tailored risk information is provided in writing along with a copy of the family tree. A list of genetic counseling service providers is included for people at high risk.

Results of a pilot study to improve identification and referral for people at high risk for hereditary colorectal cancer syndromes