We've Lost Count ...

Luke Jostins at Genomes Unzipped examines how research sequencing could translate into clinical sequencing — and what that might mean for future medical practice. In a recently published Genetics in Medicine paper, researchers at the Medical College of Wisconsin report how they used exome sequencing to diagnose a 15-month-old boy with intractable irritable bowel syndrome. While the Wisconsin team notes that it's "possible that continued single-gene testing ... may have eventually achieved a diagnosis in this child, no data existed to further guide" them as to which genes to interrogate in this iterative fashion. Jostins adds that as exome sequencing is often accessible to well-equipped institutions for less than £1,000, he agrees with the authors' conclusion that repeated single-gene tests would have been more "costly and time consuming." Based on this and other recent papers that demonstrate the utility and cost-effectiveness of exome sequencing, Jostins says that "it will be a very powerful tool in the doctor's diagnostic arsenal," and suggests that "the age of medical sequencing is coming fast."