- Claire Ainsworthfreelance science journalist
England’s chief scientist is unstinting in his praise of the “new era of genetic medicine” we are in. “It’s transforming patient care across cancer, rare diseases, diabetes, heart disease and so much more – including for seriously ill children – with faster and more accurate diagnoses, more effective and targeted treatments and helping to predict and deliver prevent the development of diseases. 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 and yet always seemed intangible to most patients and doctors.
The NHS Genomic Medicine Service, launched in 2018, aimed to change that by incorporating genomics into routine clinical care. Hill says it’s “transforming the tools doctors have to provide better patient care—whole genome sequencing (WGS), large panels for cancer, RNA sequencing for rare diseases, and more—giving them more information about their patient’s condition and how best to treat them.
The service made headlines in October when it announced the launch of a national fast-track WGS system for babies and children who are seriously ill or born with a rare disease. NHS chief executive Amanda Pritchard hailed the moment as a “world 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 technology is already embedded in the NHS and benefiting its patients, and some of the ways it is likely to be in the near future.
Genetic medicine in action
Faster and more democratic diagnosis of rare diseases
There are about 7000 rare diseases, most of which are genetic. While they may be rare individually, the…