Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.

Conclusions: Genome-wide sequencing could have a higher diagnostic yield than standard testing for people with unexplained developmental disabilities or multiple congenital anomalies. Genome-wide sequencing can also prompt some changes to medications, treatments, and referrals to specialists for some people tested; however, we are very uncertain about this. Genome-wide sequencing could be a cost-effective strategy when used after standard testing to diagnose people with unexplained developmental disabilities or multiple congenital anomalies. It could also lead to cost savings when used earlier in the diagnostic pathway. Patients and families consistently noted a benefit from seeking a diagnosis through genetic testing. PMID: 32194879 [PubMed - in process]
Source: Ontario Health Technology Assessment Series - Category: General Medicine Tags: Ont Health Technol Assess Ser Source Type: research