Exploring the Ethical Dimensions of Sequencing Newborns’ Genomes

Interest in genetic testing has significantly increased since the mapping of the human genome in 2003, offering great insight into disease risk. National Health Service (NHS) Genomic Medicine Centres have now been rolled out across England and offer tests from the NHS National Genomic Test Directory, with partner organisations in Wales, Scotland and Northern Ireland. This has increased the range of tests available and made genetic tests more accessible. The current focus of these tests, and the 100,000 Genomes Project led by Genomics England, is rare diseases and cancer, and the primary objective is to reduce diagnosis time and inform treatment decisions and estimates of prognosis. As part of this investment in incorporating genomics into clinical practice, Genomics England, in partnership with NHS England and NHS Improvement (NHSE/I), are conducting a research programme to investigate the use of whole genome sequencing (WGS) within a newborn screening context, as well as for wider genomics research to support new diagnostics and treatment for rare genetic conditions.