Germline genomic medicine: A BigMed needs analysis

Genomic medicine, or the use of genomic information about an individual as part of their clinical care for diagnostic or therapeutic decision-making, has a specific and essential need to compare genetic variants found in each new patient to those already observed and evaluated in previous patients nationally and internationally for best effect.

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This document aims to interpret high-level regulations through the lens of clinical NGS and to provide a list of resources to aid labs in developing high quality diagnostics, ensuring compliance with applicable regulations, and delivering a high standard of care within their organizations.

Germline genomic medicine: A BigMed needs analysis

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