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Clinical utility of genetic and genomic services: context matters
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Dec 10 2015
Source: Genet Med. 18(7):672-674. -
Alternative Title:Genet Med
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Description:Should diagnoses, and corresponding changes in disease management, be sufficient demonstration of clinical utility, even in the absence of evidence for improved clinical outcomes? This question is posed to the health-care payer community in a recent American College of Medical Genetics and Genomics (ACMG) position statement on the clinical utility of genetic and genomic services.1 Affirmative arguments could be drawn from examples of individually rare, highly penetrant, single-gene disorders. We fully support the ACMG’s call for inclusion of individual, familial, and societal levels of impact in the evaluation of testing. Nevertheless, broadening the definition of clinical utility for all cases may be less helpful in the evaluation of genetic tests than promoting more context-dependent and transparent decision-making, with less rigidity and dogmatic adherence to artificial logic models.
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Pubmed ID:26656648
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Pubmed Central ID:PMC4902786
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