- Clare Ainsworthfreelance science journalist
England’s Chief Scientific Officer is effusive in her praise of the “new age of genomic medicine” we are in. faster and more accurate diagnoses, more effective and targeted treatments and helping to predict and prevent disease onset,” 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 that is tantalizingly close, yet always seems elusive to most patients and doctors.
Launched in 2018, the NHS Genomic Medicine Service set out to change that by embedding genomics into routine clinical care. Hill says it “transforms the tools clinicians have to provide better care to patients – whole genome sequencing (WGS), large panels for cancer, RNA sequencing for rare diseases, and more – giving them more information about the state of their patient and how best to treat them.”
The service made headlines in October when it announced the launch of a national rapid WGS scheme for babies and children who are seriously ill or born with a rare disease. NHS chief Amanda Pritchard hailed the moment as a “global first” and “a new era of genomic medicine”. On 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 patients, and some of the ways it is likely to do so in the near future.
Genomic medicine in action
Faster and more democratic diagnosis of rare diseases
There are about 7000 rare diseases, most of them are genetic. While they may be rare individually, they are…