June 2023
Familial hypercholesterolaemia cascade screening program shown to be cost effective
By Rebecca Jenkins
An early detection and treatment program for familial hypercholesterolaemia (FH) in children is cost effective from both societal and healthcare perspectives, research shows.
FH affects one in 300 people worldwide, of whom 20 to 25% are children or adolescents, the Australian-led research team wrote in JAMA Pediatrics.
Using data from the Netherlands, one of the few countries with a long-term history of active FH screening, the researchers aimed to investigate the cost effectiveness of a nationwide cascade case-finding and preventive treatment for children with FH compared with later detection and treatment.
A cohort-state transition Markov model was constructed to simulate the progression of 1000 hypothetical 10-year-olds suspected of having heterozygous FH over a lifetime.
Nationwide case finding was associated with saved lives and improved quality of life over a lifetime, the researchers reported.
‘The incremental cost-effectiveness ratio of cascade screening and initiation of treatment with statins vs later detection and treatment was €9220 [Aus$15,000] per quality-adjusted life-year gained, that from a healthcare perspective and a societal perspective was cost saving and the return on investment for the detection and treatment program for FH in children was €8.37 [Aus$13.62],’ they wrote.
Study coauthor Professor Gerald Watts, Head of the Lipid Disorders Clinic at the Royal Perth Hospital, Perth, said the important study provided yet further evidence that cascade screening programs were cost effective and was notable for its use of the large Dutch dataset and its focus on outcomes for children.
Although geographical differences between Australia and the Netherlands made it hard to mimic the Dutch program, Professor Watts noted that since 2020, Australian clinicians have had access to specific Medicare Benefits Schedule items for genetic testing to identify FH index cases and for cascade testing of close relatives.
‘GPs are fundamental in terms of identifying index cases and initiating cascade screening and they are well placed to help the community,’ he told Medicine Today.
However, he cautioned that previous modelling showed even an ideal cascade testing process would only identify a quarter of people with FH in the community, meaning it must be supplemented with additional approaches.
Methods under investigation included newborn genetic screening, screening children at the 2-year-old immunisation visit and universal screening between the ages of 18 and 45 years using a buccal smear.
Professor Watts predicted that within the next 10 years it would be possible to successfully identify at least 75% of people with FH, but questions remained about how these people would be cared for.
‘There’s quite a fair amount of work still to be done; not only in implementation, and ethical acceptance of the concept of very early detection, but also on the risk reduction pathways – how to most efficiently, safely, equitably and cost-effectively care for people identified with FH by various screening and testing strategies.’