Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Eur J Hum Genet. 2005 Apr;13(4):401-8. doi: 10.1038/sj.ejhg.5201360.


Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as familial hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a person's life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be invited to contact his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria that, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Confidentiality
  • Ethics, Medical
  • Family
  • Genetic Techniques
  • Genetic Testing*
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Patient Advocacy
  • Truth Disclosure