Usually it takes weeks for scientists to sequence an entire genome. But [neurologist Jennifer] Friedman and her colleagues at Rady [Children’s Hospital] have sped up the process to less than a week, making it much faster to identify what’s wrong with critically ill babies so they can get the treatment they need to recover.
Genetic diseases are the leading cause of death for infants in North America, affecting an estimated 4 percent of newborns. So while the work at Rady is still in the research stage, costing the hospital about $6,000 per baby, the hope is that it could lead to a standard medical test with the potential to save thousands of lives.
First they insert snippets of DNA into small glass slides, which are scanned with a laser in a sequencing machine. The machine reads the DNA letters so that the genetic code can be reassembled and analyzed on a computer. Then lab workers use a data-crunching computer chip and a combination of different software tools to spot genetic mutations and identify the cause of illness.
So far, researchers at Rady have used their rapid technique to sequence the genomes of 340 children, most of them newborns and infants.
Read full, original post: Fast genome tests are diagnosing some of the sickest babies in time to save them