Three ways genomics is already helping NHS patients—and three ways it will soonBMJ 2022; 379 doi: https://doi.org/10.1136/bmj.o2643 (Published 24 November 2022) Cite this as: BMJ 2022;379:o2643
- Claire Ainsworth, freelance science journalist
England’s chief scientific officer is effuse in her praise of the “new era of genomic medicine” we are in. “It’s transforming patient care across cancer, rare diseases, diabetes, heart disease, and so much more—including for seriously ill babies—through faster and more accurate diagnoses, more effective and targeted treatments, and helping to predict and prevent conditions developing,” says Sue Hill.
In the two decades since the first draft of the human genome was published, genomics has been synonymous with the future of medicine—one tantalisingly close and yet always seeming intangible to most patients and doctors.
The NHS Genomic Medicine Service, launched in 2018, was intended to change that by embedding genomics in routine clinical care. Hill says it is “transforming the tools that clinicians have to deliver better care for patients—whole genome sequencing (WGS), large panels for cancer, RNA sequencing for rare diseases, and more—which is giving them more information about their patient’s condition and how best to treat them.”
The service hit the headlines in October with the announcement of the launch of a national rapid WGS scheme for babies and children who are seriously ill or born with a rare disease. NHS chief executive Amanda Pritchard hailed the moment as a “global first” and “a new era of genomic medicine.” The same day, NHS England launched its five year genomics strategy.1
Here are some of the ways the technology is already embedded in the NHS and benefiting its patients, and some of the ways it is likely to in the near future.
Genomic medicine in action
Faster and more democratic diagnosis of rare disease
There are about 7000 rare diseases, most are genetic. While they may be individually rare they …