New DNA sequencing technology could be more effective in genetic diagnosis

New DNA-reading technology could be used in the diagnosis of muscle-wasting diseases such as muscular dystrophy. The DNA sequencing machine would allow for a more accurate long-term prognosis, meaning that patients could make better-informed decisions about their futures. Traditionally, to get a genetic diagnosis, the genes involved in muscular dystrophies would need to be tested one by one. In one patient, a research team at the University of Nottingham instead used whole genome sequencing in diagnosis, which can decipher all of the over 25,000 genes of the human genome simultaneously. To further ensure accuracy, they filtered out gene differences that had already been reported by healthy people. This led to narrowing down the diagnosis to two mutations in a specific gene, correcting a prior wrong genetic diagnosis. “New DNA sequencing machines will be cheap to run, easy to use, fit on a desk and decode an entire human genome in minutes,” Andreas Leidenroth, an author of the study, said.