Details:

Alternative Title:
Genet Med
Personal Author:
Dotson, W. David ; Bowen, M. Scott ; Kolor, Katherine ; Khoury, Muin J.
Dotson, W. David ; Bowen, M. Scott ; Kolor, Katherine ; Khoury, Muin J. Less -
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.
Subjects:
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Child, Preschool Female Genetic Counseling Genetic Testing Genomics Humans Infant, Newborn Male Medical Futility Outcome Assessment, Health Care Predictive Value Of Tests Pregnancy Risk Assessment
Source:
Genet Med. 18(7):672-674.
Pubmed ID:
26656648
Pubmed Central ID:
PMC4902786
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:47947f823ced1451f3ce8533759fc919bee2434703b1c282e4ed70259fac1bbd
Download URL:
https://stacks.cdc.gov/view/cdc/39864/cdc_39864_DS1.pdf
File Type:

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