title: Evaluation of a population-based approach to familial colorectal cancer.
abstract: As Newfoundland has the highest rate of familial colorectal cancer (CRC) in the world, we started a population-based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 51% provided a family history. Seventy-two percent of families were at low or intermediate-low risk of CRC and colonoscopic screening recommendations were provided by letter. Twenty-eight percent were at high and intermediate-high risk and were referred to the genetic counsellor, but only 30% (N = 48) were interviewed by study end. Colonoscopy was recommended more frequently than every 5 years in 35% of families. Lower family risk was associated with older age of proband but the frequency of screening colonoscopy recommendations varied across all age groups, driven by variability in family history. Twenty-four percent had a high MMR predict score for a Lynch syndrome mutation, and 23% fulfilled the Provincial Program criteria for LS screening. A population-based approach in the provision of colonoscopic screening recommendations to families at risk of CRC was limited by the relatively low response rate. A family history first approach to the identification of LS families was inefficient.
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: P S
authors.initials: PS
authors.lastname: Parfrey
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Dicks
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: O
authors.initials: O
authors.lastname: Parfrey
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: P J
authors.initials: PJ
authors.lastname: McNicholas
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Noseworthy
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: M O
authors.initials: MO
authors.lastname: Woods
authors.affiliation: The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Negriin
authors.affiliation: Discipline of Genetics, Health Sciences Centre, Memorial University, St Johns, Newfoundland, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Green
mesh_terms: D000368:Aged; D003113:Colonoscopy; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000706:statistics & numerical data; D009523:Newfoundland and Labrador / Q000453:epidemiology; D016312:Treatment Refusal
keywords: Lynch syndrome screening; colonoscopic screening; familial colorectal cancer; population-based