We have entered a new era of personalised care. Advances in genomic medicine are opening up new ways to treat disease, improving survival rates and quality of life. Yet for all the hype, patients generally have yet to enjoy any significant benefit. All that may be about to change.
Dame Sally Davies, Chief Medical Officer in England, has grown impatient with the lack of progress. She has called on the NHS to deliver her “genomic dream” within five years. She wants an end to the current “once size fits all” approach to care, particularly for patients with cancer or rare diseases.
What does that mean in practice? It means giving clinicians the tools they need to treat each patient with drugs they know are most likely to work, while reducing the risk of toxic side effects. This is achieved by understanding the genetic make-up of the patient and their tumour, which is often more important than where it is found.
Tens of thousands of NHS patients have already had their DNA mapped, but the new recommendations set out in Dame Sally’s Generation Genome report aim to multiply the numbers many times over. Her vision is for millions of patients to have all their DNA tested as genome sequencing becomes as routine as MRI or CT scans. Ultimately, the goal is for every cancer patient to have their whole genome sequenced, making the procedure as standard as blood tests and biopsies. For cancer patients, and for those with rare diseases, this would end the diagnostic odyssey of multiple tests and visits to different specialists.
Dame Sally’s vision for genetics in the NHS will be welcomed by companies like HSL, who already put genetics at the heart of pathology. HSL is the leading provider of cell-free DNA diagnosis in the UK. Its high throughput core molecular laboratory, which brings together all the specialities that use molecular technology, carries out around 1.6 million molecular tests a year. HSL also plays a leading role in international research into molecular diagnosis of complex infections.
One significant development that brings genome sequencing within reach concerns finance. The cost of sequencing has fallen from billions of pounds two decades ago to just £700 for each patient today. This modest outlay can quickly be recovered through use of drugs that are more likely to be effective
The biggest obstacle to realising Dame Sally’s dream may yet be public attitudes. People must give consent for a database of their genetics. For this to happen the NHS has to address concerns about its ability to protect the confidentiality of data, after a succession of breaches. Persuading patients that conflicted third parties, such as insurance companies, will not be able to exploit the data, must be a priority.
The most powerful argument is that life-saving treatment may be missed if doctors do not have the genetic data to understand the best way to respond. So, appealing to self-interest may be the best way forward for the NHS.
Martin Barrow is a journalist and former health editor at the Times. Follow him on Twitter @MartinBarrow