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Last Posted: Feb 08, 2024
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Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.
Clara Marquina et al. Pharmacoeconomics 2024 1

From the abstract: "A total of 21 studies evaluating 62 strategies were included in this review, most of the studies (95%) adopted a healthcare perspective in the base case, and majority were set in high-income countries. Strategies analysed included cascade screening (23 strategies), opportunistic screening (13 strategies), systematic screening (11 strategies) and population-wide screening (15 strategies). Most of the strategies relied on genetic diagnosis for case ascertainment. Based on reported willingness to pay thresholds for each setting, most CEA studies concluded that screening for FH compared with no screening was cost-effective, regardless of the screening strategy. Cascade screening resulted in the largest health benefits per person tested. "

Managing genetic information sharing at family and population level
A McNeill, EJHG, January 4, 2023

From the article: "The process by which the “at risk” relatives of a person with a genetic condition should be notified of the possible need for them to have genetic testing has long been controversial. At present, it is common practice to request the proband to inform relatives of the genetic condition, treatment and testing options. Uptake of cascade testing is generally low, and dissemination of the genetic information within families is a major barrier. "

Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Nadeem Qureshi et al. Health Technol Assess 2023 11 (16) 1-140

From the abstract: "Cascade testing the relatives of people with familial hypercholesterolaemia is an efficient approach to identifying familial hypercholesterolaemia. The cascade-testing protocol starts with identifying an index patient with familial hypercholesterolaemia, followed by one of three approaches to contact other relatives: indirect approach, whereby index patients contact their relatives; direct approach, whereby the specialist contacts the relatives; or a combination of both direct and indirect approaches. However, it is unclear which protocol may be most effective. "

Concordance of a High Lipoprotein(a) Concentration Among Relatives.
Laurens F Reeskamp et al. JAMA Cardiol 2023 10

From the abstract: "What is the prevalence of high lipoprotein(a) concentrations (=125 nmol/L) in first- and second-degree relatives of individuals with high lipoprotein(a) levels? In this cross-sectional study, 1607 of 3420 (47.0%) first-degree relatives of UK Biobank participants with a lipoprotein(a) concentration at least 125 nmol/L were similarly affected, compared with 4974 of 30 258 (16.4%) unrelated individuals. Cascade screening of first-degree relatives of individuals with high lipoprotein(a) levels, if implemented at scale, is likely to identify a substantial number of additional high-risk individuals. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.