Friday, February 24, 2017


This blog carried an article about expanded carrier screening on February 20 (here).  Unknown to me at that time, this week American College of Obstetrics and Gynecology has issued two new guidance documents on carrier screening, #690 here and #691 here.

ACOG split its discussions into two papers, the first, "Carrier Screening in the Age of Genomic Medicine" (#690) and the second, "Carrier Screening for Genetic Conditions" (#691) which includes sections for Ashkenazi and for panethnic screening.

Medpage covers the new guidance documents here (February 23, 2017).

In my February 20 blog, I noted that the public agenda for a recent AMA CPT meeting included a code proposal for expanded (panethnic) carrier screening.   I also noted that the somewhat dated, decade old available guidance documents were unusual from a health technology assessment or evidence based medicine perspective.  However, that blog is now largely superseded by the new ACOG positions.

For some recent links in the field:

  • Medpage Today (February 23, 2017) ACOG new guidance - here.
  • Huffington Post (February 20, 2017 - not tied to ACOG) - Consumer update - here.
  • Genomeweb (December 5, 2016)- Roche to offer GoodStart Genetics testing - here.
  • Genomeweb (November 2, 2016) - Good Start Genetics and Amazon - here.
  • OBGYN Trade journal (June 16, 2016) - Are you prepared for ECS? - here.
  • JAMA (August, 2016) - Haque et al. study of over 300,000 cases - here.
  • Molec Genet Genom Med (2016) NGS carrier screening cost effectiveness - here.