title: BRCA1/2 predictive testing: a study of uptake in two centres.
abstract: Differences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a non-proactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively. Unlike previous studies, we did not find that uptake had stabilised after a year with 25% of those being tested more than 2 years after the family was informed, and several delaying a considerable time between genetics appointments. We believe that the particularly low uptake even of counselling in men may need to be addressed by improving family communication or providing information sheets for family members to disseminate.
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.
authors.forename: Lucy
authors.initials: L
authors.lastname: Brooks
authors.forename: Fiona
authors.initials: F
authors.lastname: Lennard
authors.forename: Andrew
authors.initials: A
authors.lastname: Shenton
authors.forename: Fiona
authors.initials: F
authors.lastname: Lalloo
authors.forename: Ingrid
authors.initials: I
authors.lastname: Ambus
authors.forename: Audrey
authors.initials: A
authors.lastname: Ardern-Jones
authors.forename: Rachel
authors.initials: R
authors.lastname: Belk
authors.forename: Bronwyn
authors.initials: B
authors.lastname: Kerr
authors.forename: David
authors.initials: D
authors.lastname: Craufurd
authors.forename: Rosalind
authors.initials: R
authors.lastname: Eeles
authors.forename: D
authors.initials: D
authors.lastname: Gareth Evans
mesh_terms: D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013997:Time Factors; D006113:United Kingdom