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Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH)

Pears, R; Griffin, M; Futema, M; Humphries, SE; (2015) Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH). Current Opinion in Lipidology , 26 (3) pp. 162-168. 10.1097/MOL.0000000000000173. Green open access

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Abstract

Purpose of Review : Many International recommendations for the management of Familial Hypercholesterolaemia (FH) propose the use of Cascade Testing (CT) using the family mutation to unambiguously identify affected relatives. In the current economic climate DNA information is often regarded as too expensive. Here we review the literature and suggest strategies to improve cost effectiveness of CT. Recent findings : Advances in next generation sequencing have both speeded up the time taken for a genetic diagnosis and reduced costs. Also, it is now clear that, in the majority of patients with a clinical diagnosis of FH where no mutation can be found, the most likely cause of their elevated LDL-cholesterol (LDL-C) is because they have inherited a greater number than average of common LDL-C raising variants in many different genes. The major cost driver for CT is not DNA testing but of treatment over the remaining lifetime of the identified relative. With potent statins now off-patent, the overall cost has reduced considerably, and combining these three factors, a FH service based around DNA-CT is now less than 25% of that estimated by NICE in 2009. Summary : While all patients with a clinical diagnosis of FH need to have their LDL-C lowered, CT should be focused on those with the monogenic form and not the polygenic form.

Type: Article
Title: Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/MOL.0000000000000173
Publisher version: http://dx.doi.org/10.1097/MOL.0000000000000173
Additional information: This is an open access article distributed under the Creative Commons Attribution License 4.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by-nc-nd/4.0
Keywords: Next generation sequencing, polygenic FH, statin price
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: http://discovery.ucl.ac.uk/id/eprint/1463529
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