The Practice Guidelines Committee (PGC) is pleased to announce publication updates for two NSGC documents: Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors Neurofibromatosis Practice Resource and the Focused Revision of the Fabry Practice Resource (publication date to be announced).
The Neurofibromatosis Practice Resource is an especially significant milestone—it is the first published practice resource since NSGC revised its practice-guideline criteria in 2015. During its criteria-revision process, the PGC retired, reaffirmed, or reclassified into practice resources all NSGC practice guidelines published before 2015.
NSGC retired its 2007 Neurofibromatosis practice guideline in early 2017 and the author group immediately began developing a new practice resource to accommodate new research and incorporate several practice-related updates.
NSGC congratulates and thanks the Neurofibromatosis author group:
- Heather Radtke
- Amanda Bergner
- Allison Goetsch
- Caroline McGowan
- Karin Panzer
- Ashley Cannon
NSGC created the practice recourses category in 2015 to provide the profession evidence-informed documents that provide best-practice guidance for various disease- and practice-specific topics. The PGC, which works with author groups to develop NSGC clinical practice guidelines and practice resources, has an additional seven practice resources undergoing development:
- Clinical Documentation
- Congenital Heart Disease
- Hereditary Breast and Ovarian Cancer
- Lynch Syndrome
- Pedigree Nomenclature
- Proactive Genetic Screening Tests
Each of these documents are at various stages of development and each undergo PGC review, peer review, NSGC member comment, NSGC Ethics Advisory Group review, NSGC legal review and NSGC Board review.
To ensure NSGC practice documents are up-to-date and remain relevant to the profession, the PGC developed a focused-revision category in 2017 to enable authors to publish targeted addendums to accompany existing NSGC resources.
The Fabry Focused Revision is a product of this process and provides updates to research approaches, prevalence, medical management, life expectancy and newborn screening for Fabry disease. Authors, along with the document’s expert reviewers, developed the Fabry Focused Revision to accompany NSGC’s Fabry Practice Guideline. The Journal of Genetic Counseling will publish the Fabry Focused Revision, which will accompany NSGC’s existing Fabry Practice Resource.
The PGC is overseeing a focused revision for NSGC’s Consanguinity Practice Resource.
NSGC congratulates and thanks the Fabry Focused Revision authors:
- Dawn Laney
- Lisa Berry
- Nadene Henderson
The PGC is also facilitating six clinical practice guideline efforts:
- Expanded Carrier Screening
- Hereditary Cancer
- Hypertrophic Cardiomyopathy
- Monogenic Diabetes
Look for more PGC updates on NSGC’s clinical practice guidelines, practice resources and focused revisions in the near future. The PGC is also preparing to recruit new members for 2021. If you are interested in developing NSGC’s practice-related documents, consider joining the PGC in 2021.
The application period opens on Tuesday, September 1. Visit the PGC webpage to learn more about the Committee, the documents under development and the author groups developing NSGC’s practice documents. Please also feel free to contact PGC Staff Liaison Molly Giammarco.
This article was published in the August 2020 Advocate Newsletter.