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Ann Clin Biochem. 2009 Jan;46(Pt 1):24-32. doi: 10.1258/acb.2008.008094. Epub 2008 Nov 21.

Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project.

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Institute of Child Health, London IDEAS Genetics Knowledge Park, UCL, 30 Guilford Street, London WC1N 1EH.



Family tracing is a method recognized to find new patients with familial hypercholesterolaemia (FH). We have implemented family tracing led by FH Nurses and have determined acceptability to patients, feasibility and costs.


Nurses were located at five National Health Service (NHS) Trusts; they identified FH patients and offered them family tracing. Responses and test results were recorded on a database and summarized on a family pedigree.


The majority ( approximately 70%) of index cases participated; the proportion was lower when patients had been discharged from the clinics and in metropolitan areas. On average, 34% (range 13-50%) of relatives lived outside the catchment area of the clinics and could not attend the nurse-led FH clinics. Of the previously untested relatives, 76% who lived in the catchment area of the clinic came forward to be tested. One-third of the relatives who came forward for testing were children <or=16 y of age. The proportion of relatives diagnosed as likely to have FH was lower than would be predicted (30% vs. 50%). This was mainly due to the uncertainty of a diagnosis based on lipid measurements. The average cost to identify and test one relative was approximately pound 500 but was higher in the metropolitan areas.


Cascade testing for FH in the UK is feasible, acceptable and likely to be cost-effective if it is a routine aspect of clinical care. However, national implementation would require an integrated infrastructure, so that all individuals have access to testing, and specialist services for the management of young people.

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