Whole genome sequencing is increasingly becoming integral to enabling the personalization of medicine. The U.K. is leading the way in this regard, with the National Health Service (NHS) in England scaling up rapid whole genome sequencing in a population-wide effort. In January 2019, all children with cancer in England were offered whole genome sequencing, and in June 2019 the NHS implemented a program in which any baby or child in England admitted to intensive care with an unexplained condition became eligible - together with their parents - for whole genome sequencing. Now, the NHS is launching the “Newborn Genomes Programme” to sequence the genomes of up to 100,000 newborns to facilitate detection of genetic illnesses. Clinical scientists, geneticists and bioinformaticians will carry out much speedier processing of DNA samples, from saliva and other tissues, as well as blood. The data will be de-identified and added to Britain’s National Genomic Research Library to be mined and analyzed by researchers and healthcare companies for the development of new treatments and diagnostics. In the U.S., five states currently offer comprehensive coverage of rapid whole genomic sequencing screening for critically ill infants, with discussions underway in other states regarding expansion of genetic testing services. This major step towards realizing a key objective of precision medicine will undoubtedly be watched closely as a model for other countries.
NHS England Moves to Sequence Whole Genomes of Critically Ill Infants