Familial breast cancer: some social, economic and ethical issues

ABSTRACT Demand for clinical services for breast cancer fam-ilies has grown enormously in recent years. Much attentionhas focused on high penetrance “breast cancer gene” muta-tions but these are rare and, overall, a more substantial con-tribution to the genetic component in breast cancer etiologycomes, almost certainly, from common low penetrance muta-tions or polymorphisms in genes that have yet to be identified.In offering services for breast cancer families, there should beopen acknowledgement of the high degree of uncertainty sur-rounding current practice – risk evaluation for any individualfamily member, the role of environmental factors interactingwith genetic predisposition and the value of any particularscreening or intervention protocol. Nevertheless, evidence isaccruing that most women derive psychological benefit fromenrolment in a familial cancer programme and that regularclinical/mammographic screening for those at increased riskis effective in detecting very early-stage tumours, even inyoung women. It is essential that prospective audit of the out -come of such programmes continues, including careful mea-sure of their cost-effectiveness. Advances in molecular tech-nology, leading to an increased rate of detection of causalmutations among breast cancer families will help to concen-trate resources on those at highest risk but will highlightimportant ethical questions relating to confidentiality, duty ofcare and possible discrimination against mutations-carriers. Ifthe effects of clinical and laboratory services for cancer fami-lies are shown clearly to be beneficial, it is likely that some ofthese ethical issues will become less contentious.