How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom

What is the clinical utility of genetic testing?

“…The Genetic Testing Network Steering Group and the Public Health Genetics Unit in the United Kingdom have also adopted the ACCE framework and refer to "outcomes" and "net benefit" without specifying which endpoints should be included under clinical utility. 10 …”

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

“…The assessment of pros and cons according to the different schemes mentioned above, builds on the evaluation of a specific genetic test in a specific setting according to the criteria specified in the ACCE framework (Sanderson et al 2005 When considering implementation in health care, priority should be given to genetic tests for common complex diseases of proven clinical utility and cost effectiveness. As an example, a population cascade screening program for familial hypercholesterolemia has been in operation in the Netherlands since 1994 and has reduced morbidity among affected patients (Grosse et al 2010).…”

Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields

“…When evaluating a test, it is important that the target disorder is defined either by reference to the phenotype or for a genotypic definition, by an alternative assay reference method to prevent the problem of incorporation bias. 12,24 Thus, in a known LD syndrome, such as DiGeorge syndrome, the traditional evaluative approach can be applied using either the phenotype or the genotype as the reference standard (assuming that the deletion could be detected by an alternative technology such as FISH). In this particular setting, the definition of the target disorder was very broad and largely encompassed patients with hitherto unknown genetic abnormalities.…”

“…24 Second, for newly emerging technologies, identification of either a phenotypic or genotypic reference standard can be problematic. In these situations, conventional indices of test discrimination cannot be Biosis al: (array-cgh OR microarray) and ts: "mental retardation" or "learning disability" or "learning disorder" or "developmental disorder" or "abnormalities" and su: (Human).…”