The American College of Medical Genetics and Genomics (ACMG) has released its first evidence-based guideline for clinical practice using exome/genome testing. The guideline focuses on (1) congenital anomalies and (2) intellectual disability.
- See the press release here.
- See the 9-page guideline Manickam et al. here.
- See coverage at Genomeweb, July 1, here.
"The literature supports the clinical utility and desirable effects of ES/GS [exome, genome sequencing] on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation."