Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop by unknow

Author:unknow
Language: eng
Format: epub
Tags: Health and Medicine: Genetics, Health and Medicine: Health Sciences, Health and Medicine: Healthcare and Quality
Publisher: The National Academies Press
Published: 2018-03-16T00:00:00+00:00

Optimizing Results and Experience Sharing: Standards of Evidence

The ClinGen project is a venue for sharing genomic information that includes the vetting of information by experts, developing standards, and moving toward actionability (Rehm et al., 2015). However, Boerwinkle said, scaling the approach of ClinGen will be challenging because of the need to establish the clinical validity of the variants with groups of experts. The ability to scale the sharing of genomic information is essential for genomics to become integrated into the routine health care setting. Developing semi-automated clinical reporting platforms and machine-learning algorithms to help with establishing the clinical validity of variants and matching variant characteristics to phenotypic characteristics may be one useful approach. Another possible approach, Boerwinkle said, is crowd-sourcing the curation of genomic data and the interpretation of variants in order to tap into the tremendous expertise in the health community.

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