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1.
Clin Genet ; 91(5): 672-682, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27696385

RESUMO

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.


Assuntos
Neoplasias Colorretais/genética , Programas de Rastreamento , Idoso , Colonoscopia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Feminino , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Humanos , Masculino , Programas de Rastreamento/estatística & dados numéricos , Terra Nova e Labrador/epidemiologia , Recusa do Paciente ao Tratamento
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