BRCA1/2 predictive testing: a study of uptake in two centres

Eur J Hum Genet. 2004 Aug;12(8):654-62. doi: 10.1038/sj.ejhg.5201206.


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.

Publication types

  • Comparative Study

MeSH terms

  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling / statistics & numerical data*
  • Genetic Testing / statistics & numerical data*
  • Humans
  • Male
  • Mutation / genetics*
  • Pedigree
  • Time Factors
  • United Kingdom