Genome sequencing for sale on the NHS
BMJ 2019; 364 doi: https://doi.org/10.1136/bmj.l789 (Published 25 February 2019) Cite this as: BMJ 2019;364:l789- Christopher Semsarian, professor12
- 1Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney NSW 2042, Australia
- 2Department of Cardiology, Royal Prince Alfred Hospital, Sydney
- c.semsarian@centenary.org.au
Major advances have been made in the field of genomics in recent years. We are now able to sequence the entire genome. Rapid advances in genetic technologies have led to greater availability, and at lower costs, of all forms of genetic tests, ranging from online direct to consumer DNA test kits to clinical whole genome sequencing of all 20 000 human genes.12
England’s health secretary, Matt Hancock, recently announced plans to offer healthy people the option to have their whole genome sequenced by the NHS for an as yet undisclosed fee (thought to be a few hundred pounds).3 These “genomics volunteers” would receive a personalised health report indicating genetic risks of various diseases including cancer, dementia, and cardiovascular disease. These extensive personal genomic data will be shared with researchers to provide opportunities to improve our understanding of human diseases. This proposal raises several important clinical, logistic, social, and ethical issues, which must be carefully …
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