Inherited Conditions

Implementation of Carrier Screening for Autosomal Recessive and X-linked Disorders - Clinical Practice and Laboratory Perspectives

Program Committee Moderator(s)

• 

  Honey Reddi, PhD, FACMG (she/her/hers)

  SVP and Medical DIrector
  Belay Diagnostics
  Sussex, Wisconsin, United States

Co-Moderator (Early Career)(s)

• 

  Sara Akhavanfard, MD, PhD, FACMG

  Assistant Professor of Pathology / Lab Director
  Case Western Reserve University / University Hospitals
  Cleveland, Ohio, United States

Session

Description: This session will review the current American College for Medical Genetics and Genomics (ACMG) guidelines for carrier screening. ACMG published a clinical practice resource for carrier screening in 2021 (PMID: 34285390), followed by a laboratory technical standard in 2024 which list the conditions and associated genes that need to be evaluated for comprehensive carrier screening along with the technical considerations for laboratory implementation of carrier screening (PMID: 38814327).

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Presentations:

• 10:15 AM – 11:00 AM PST

  Laboratory Perspectives for Carrier Screening for Autosomal Recessive and X-Linked Disorders’
  

  Breakout Speaker: Saurav Guha, PhD (he/him/his) – New York Genome Center, NY, NY
• 11:00 AM – 11:45 AM PST

  Clinical Practice Guidelines for the Screening for Autosomal Recessive and X-linked Conditions
  

  Breakout Speaker: Anthony R. Gregg, MD, MBA – Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC