title: Uptake of testing for BRCA1/2 mutations in South East Scotland.
abstract: We investigated the uptake of genetic testing by 54 families in South East Scotland with a BRCA1/2 mutation. At a median of 37 months since identification of the mutation, the overall rate of uptake of testing in 269 eligible family members was 32%. First-degree relatives were significantly (P<0.05) less likely to be referred for genetic counselling in more, compared to less, socioeconomically deprived families (46 versus 68%). Among relatives who attended for genetic counselling, females were more likely to be tested than males (76 versus 53%; P<0.05) and relatives with children more than those without children (82 versus 53%; P<0.001). Tested relatives were older than relatives who did not undergo testing (mean 41.9 versus 36.8 years, P<0.05) but did not differ in degree of relationship to the index case or in socioeconomic deprivation. Our results confirm the findings from other studies of substantially lower rates of uptake of genetic testing for BRCA1/2 mutations than anticipated in earlier predictions. Relatives in more socioeconomically deprived families were less likely to be referred for genetic counselling, which is a matter of concern. This may be partly the result of a lack of understanding of the testing process. Cascading currently does not work in breast cancer families and further work is required to investigate intrafamilial communication patterns, testing behaviour and counselling strategies.
authors.affiliation: Department of Clinical Genetics, Western General Hospital, and Department of Public Health Sciences, University of Edinburgh Medical School, Edinburgh, UK. s.m.holloway@ed.ac.uk
authors.forename: Susan M
authors.initials: SM
authors.lastname: Holloway
authors.forename: Birgitta
authors.initials: B
authors.lastname: Bernhard
authors.forename: Harry
authors.initials: H
authors.lastname: Campbell
authors.forename: Wayne W K
authors.initials: WW
authors.lastname: Lam
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000523:psychology*; D005190:Family; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology / Q000706:statistics & numerical data; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D012606:Scotland
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein