Conference Abstracts

Familial Hypercholesterolaemia (FH) pilot cascade screening project

Samantha Poke, Gerald Watts, Suzy Maxwell, Kate Brameld, Peter O’Leary

Office of Population Health Genomics, Department of Health WA, on behalf of FHWA

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism leading to premature coronary heart disease (CHD). The early diagnosis and treatment of FH can delay or prevent the onset of CHD. The FHWA program has three components: an education program for general practitioners, model of care and support for families with FH.  Feedback from the education program has helped to refine and target the information required to identify and manage FH cases. The model of care that has been developed for screening adults and children at risk of FH provides clinical pathways for investigation and monitoring index cases and for involving families in cascade screening. The cases were identified initially based on phenotype and have since undergone genotypic testing. Of the 121 index cases that have been assessed, 91 relatives have been identified by cascade screening as having FH. The availability of genotyping has simplified the process of identifying affected relatives.  A family support organisation has been established to improve information, communication and support services for families with FH. The outcomes from this pilot program provide a service framework, support for FH families and a practical examination of issues related to targeted genetic screening, sharing family health information and the translation of research into improvements in community health.

Presented at the Genes for Health Conference, May 2009