On August 24, 2022, the Personalized Medicine Coalition convened a virtual discussion to consider the implications for patients and providers of a PMC-commissioned economic modeling study suggesting that the use of next-generation sequencing (NGS)-based tests to profile whole genomes may be the most cost-effective strategy for diagnosing critically ill infants who are less than a year old with suspected rare genetic diseases. The study, published in the June 2022 issue of Genetics in Medicine, also suggests that under certain assumptions, NGS-based testing is a cost-effective strategy for uncovering disease causes among all children with undiagnosed rare diseases who are under the age of 18.
