Whole genome sequencing in 50 hours

There are thousands of genetic diseases, many of which are lethal in untreated newborn babies. Unfortunately, the conventional whole genome sequencing (WGS) methods required to detect these defects can take up to six weeks—time that infants may not have. Thanks to the efforts of more than twenty authors (and countless other people) from Children’s Mercy Hospital and two universities in Kansas City, MO, WGS can now be done in just over two days.

Several innovations were responsible for this great decrease in time. First, sample preparation time was decreased from sixteen hours to only 4.5 hours. The sequencing itself, which used to take well over a week, was reduced to just over one day. Finally, the subsequent analysis time was likewise drastically reduced. By combining these time saving factors, the researchers were able to successfully complete WGS on several infants in only fifty hours. Because much of the work was fully automated, only five of those hours required human involvement.

Although many genetic diseases can be managed with prompt and proper care, there are sadly many others for which any treatment is futile. However, even in cases where an infant has an inevitably fatal illness, parents may still benefit from knowing sooner rather than later. In some cases, rapid WGS might quickly rule out suspected genetic diseases, or help researchers find genetic connections for diseases with unknown causes. For these reasons, this new technique will probably find wide use in hospitals.

Carol Jean Saunders, & et al (2012). Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units Science Translational Medicine DOI: 10.1126/scitranslmed.3004041