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

Lucy Brooks, Fiona Lennard, Andrew Shenton, Fiona Lalloo, Ingrid Ambus, Audrey Ardern-Jones, Rachel Belk, Bronwyn Kerr, David Craufurd, Rosalind Eeles, D. Gareth Evans

    Research output: Contribution to journalArticlepeer-review


    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. © 2004 Nature Publishing Group All rights reserved.
    Original languageEnglish
    Pages (from-to)654-662
    Number of pages8
    JournalEuropean Journal of Human Genetics
    Issue number8
    Publication statusPublished - Aug 2004


    • BRCA1
    • BRCA2
    • Predictive
    • Uptake


    Dive into the research topics of 'BRCA1/2 predictive testing: A study of uptake in two centres'. Together they form a unique fingerprint.

    Cite this