BRCA1 testing: Some issues in moving from research to service

Abstract

About 3% of cases of breast or ovarian cancer (i.e. 1000 women per year in the UK) are thought to result from mutations of the gene known as BRCA1. The identification of the gene opens up the possibility of identifying carriers before they develop the disease. All those who have so far been tested for BRCA1 mutations have been from highly selected multi-case families. Most families who carry a BRCA1 mutation will not have such striking histories; individuals from these families are likely to be less well prepared for information about genetic susceptibility. This paper explains the practicalities of BRCA1 mutation testing and discusses the consequent limitations and some possible scenarios for widespread testing. The success of any screening programme will depend initially on affected individuals being willing to be tested, but at present nothing is known about how cancer patients will respond to the knowledge that their illness has a genetic basis. What distinguishes genetic disorders from other illnesses is their implications for families. We argue that it is important that the psychosocial processes involved in offering testing be investigated both for the individual and the family, before any testing is introduced on a wide scale.