Family-level utility of pediatric genomic sequencing: A qualitative analysis and attribute framework

Genetics in Medicine(2022)

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摘要
Assessing the economic value of clinical genomic sequencing is challenging because traditional measures used to assess health-related quality of life may not adequately capture all relevant effects. Moreover, given the familial nature of genetic information, effects of genomic sequencing extend beyond the individual patient to their family. Family-level effects may be particularly relevant in the context of pediatric sequencing applications when parents or caregivers are actively involved in the care of their child.
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