One in 17 people will encounter a rare disease of genetic origin in their lifetime. Approximately half of those will be children, with 30% of those children not surviving beyond the age of 5 years. Before the introduction of whole exome sequencing (WES) and whole genome sequencing (WGS), patients waited on average six years for a diagnosis through the standard diagnostic pathway. Often, patients remained undiagnosed and 38% of families consulted with at least six doctors before receiving a diagnosis. Providing access to WES and WGS increases the number of children diagnosed and significantly reduces the time to diagnosis for children with suspected genetic conditions.
