The Practice Guidelines Committee (PGC) wraps up 2021 with five published clinical-guidance documents (Clinical Documentation and Congenital Heart Disease Practice Resources, Consanguinity Focused Revision, Epilepsy and Telegenetics) and several more submitted to journals for publication (Lynch Practice Resource as well as the Expanded Carrier Screening and Hypertrophic Cardiomyopathy Systematic Evidence Reviews.) The Telegenetics Practice Guideline and Pedigree Nomenclature Practice Resource are also in the final stages of review.

NSGC’s PGC has several practice documents in various stages development:

• Epilepsy Practice Guideline
• Expanded Carrier Screening Practice Guideline
• Hereditary Cancer Practice Guideline
• Hypertrophic Cardiomyopathy Practice Guideline
• Dystrophinopathies Practice Resource
• Polygenic Risk Score Practice Resource
• Proactive Genetic Screening Practice Resource

All NSGC practice documents undergo PGC review, journal peer review, NSGC member comment, NSGC Ethics Advisory Group review, NSGC legal review and NSGC Board review. Look for updates on each document in the coming months. NSGC’s development process for practice guidelines requires separate and distinct author groups to conduct a topic’s systematic evidence review (conducted to inform the practice guideline) and write the topic’s practice guideline.

NSGC could not develop these documents without the engagement and support of the NSGC membership. If you are interested in helping NSGC develop practice documents, read more about NSGC’s practice document development process on the NSGC website.

A special thank you to the PGC members who contribute so much of their time and talents to supporting NSGC practice documents: