Authors' objectives:

The aims of this report are: - To evaluate whether screening for FH is appropriate. - To determine which system of screening is most acceptable and cost-effective. - To assess the deleterious psychosocial effects of genetic and clinical screening for an asymptomatic treatable inherited condition. - To assess whether the risks of screening outweigh potential benefits.

Authors' results and conclusions: Modelling cost-effectiveness: FH is a life-threatening condition with a long presymptomatic state. Diagnostic tests are reasonably reliable and acceptable, and treatment with statins substantially improves prognosis. Therefore, it is appropriate to consider systematic screening for this condition. Case finding amongst relatives of FH cases was the most cost-effective strategy, and universal systematic screening the least cost-effective. However, when targeted at young people (16 year olds) universal screening was also cost-effective. Screening patients admitted to hospital with premature myocardial infarction was also relatively cost-effective. Screening is least cost-effective in men aged over 35 years, because the gains in life expectancy are small. The modelling results would support a combination of strategies. For example, universal systematic screening at 16 years could be carried out alongside both opportunistic screening of patients with an early myocardial infarction (men aged 1634 years, women aged 1654 years) and case finding for family members of index cases (men aged 1634 years, women aged 1654 years). Psychosocial effects of screening: Very few papers were found that addressed the psychosocial effects of screening for a treatable inherited condition, and the quality of the papers was generally disappointing. Problems with labelling and discrimination were hypothesised, but there were few data to support these hypotheses. There was no evidence of any deleterious effect on the mental health or social functioning of adults following a diagnosis of FH, although there was some weak evidence that diagnosis in childhood aroused anxiety and created tensions within families. It is possible that diagnosis in adults may make it more difficult for them to get life insurance. Fear of discrimination was reported as a barrier to screening. Many authors called for more counselling at the time of screening, but the nature of the counselling was poorly described and there were no data to support its effectiveness.

Authors' recommendations: From the modelling exercise, it appears that a case-finding strategy (with a clinical or genetic diagnosis) to identify FH in the families of known FH patients would be cost-effective. Screening all 16 year olds using clinical methods of diagnosis appears to be similarly cost-effective, assuming that such screening is acceptable and that at least 55% of those invited for screening do attend. There is a lack of qualitative or quantitative evidence on the psychosocial effects of screening for FH or other treatable inherited conditions, or on the effectiveness of educational and counselling interventions at the time of screening. The results of our model show that case finding in the relatives of known FH patients is probably cost-effective, as is a universal screening strategy in young people, and screening of patients admitted to hospital with premature myocardial infarction. However, primary data on the effectiveness and cost implications of screening strategies is lacking, so it is difficult to conclude with certainty that one strategy is more effective or less costly than another.

Authors' methods: Systematic review, Cost study

Project Status: Completed

URL for project: http://www.hta.ac.uk/998

Year Published: 2000

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

Organisation Name: NIHR Health Technology Assessment programme

Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK

Contact Name: journals.library@nihr.ac.uk

Contact Email: journals.library@nihr.ac.uk

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