Friday, July 23, 2021

Very Brief Blog: New ACMG Guidance for Gene Lists in Carrier Screening

A few weeks ago, I highlighted new guidelines from ACMG on exome/genome screening in pediatrics (here).  

This week, ACMG has updated carrier screening guidelines for recessive- and X-linked conditions.   

  • See the open-access guideline (practice resource) from ACMG here.
    • Gregg et al, 2021: "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics" 
    • "ACMG has now created a set of 113 genes, both autosomal recessive and X-linked, that should be considered as a standard offering to preconception and prenatal patients."
  • See coverage at Genomeweb here.
  • See press release here.

While googling this, I ran across a publicly available "Clinical Appropriateness Guideline" (22p) for "Genetic Testing for Reproductive Carrier Screening," here, from AIM Specialty Health.  It has an effective date of 9/6/2021.  For example, it lists 9 genes for Ashkenazi screening (p. 4).