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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.

Karen E WainDanielle R AzzaritiJennifer L GoldsteinAmy Knight JohnsonPatti KrautscheidBrianna LeporeJulianne M O'DanielDeborah RitterJuliann M SavattErin Rooney RiggsChrista Lese Martin
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
This study is the first to document variant interpretation practice broadly across clinical GC specialties. Our results suggest that variant interpretation should be considered a practice-based competency for GCs.
Keyphrases
  • clinical practice
  • primary care
  • healthcare
  • quality improvement
  • genome wide
  • gene expression
  • dna methylation
  • high resolution
  • mass spectrometry
  • medical education
  • tandem mass spectrometry