The story of Nic Volker highlights the potential for genome sequencing to improve diagnosis of rare genetic conditions. As the cost falls and the speed increases, genome sequencing is hoped to cut short the lengthy “diagnostic odysseys” that many families experience. In the NICU, time is especially crucial to provide the best care possible for newborn patients with suspected genetic conditions.
This week, a group from Children’s Mercy Hospital in Missouri reported a new method for speeding up the process. Searching the entire genome for a mutation that is responsible for a disease is like trying to find a needle in a haystack. Here, they used a patient’s symptoms to narrow the search – arriving at a preliminary diagnosis in as little as 50 hours. However, it is important to note that sequencing will not always lead to a diagnosis, but it can rule out known candidate genes.
For more on this study, check out Monya Baker’s article in Nature News and Gina Kolata’s article in the NY Times.