Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

Abstract

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Evidence synthesis to inform model-based cost-effectiveness evaluations of diagnostic tests: a methodological review of health technology assessments

“…Of the other 11, a high level of clinical and/or statistical heterogeneity was the primary explanation most commonly given for not reporting a meta-analysis, although some reported finding insufficient or inadequate data in the primary studies [29, 30, 35] and one cited “the overwhelming positive nature of all of the results regarding the analytical validity of each of the tests” [28]. …”

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review

“…22,23 Testing for this condition in high risk populations (family members of persons with clinical diagnosis or genetic mutations) using a case finding/cascade screening approach is usually found to represent the most cost-effective (lowest ICER) application of the screening technology. 22,23,25,34,37,41 Furthermore, in the case of general population screening for Familial Hypercholesterolemia, the clinical utility of the genetic test compared to a standard cholesterol test to evaluate individual patient's possible need for lipid lowering drugs (e.g. statins) may be the more cost-effective approach considering the clinical care pathway would certainly require a cholesterol test prior to statin use anyway.…”

Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays

“…The sensitivity of these assays varies and is largely dependent on the number of mutations detected and whether these mutations are represented in the population screened. 9 Conventional capillary (Sanger) sequencing can also provide a more comprehensive sequence coverage with a high degree of accuracy but the requirement for dedicated infrastructure and low throughput capacity limits its practicality. 10 In addition, multiplex ligation-dependent probe amplification analysis (MLPA), a high-throughput and cost-effective method has been shown to be efficient in diagnosing large gene rearrangements.…”