The beginning of the genomics revolution

Professor Carrie MacEwen, Chair of the Academy of Medical Royal Colleges, heralds the progress made on genomics and looks to the future.

For all sorts of reasons, 2019 promises to be a year of great change. But, while what’s going on in the world of politics fills our airwaves, newspapers and screens, there is a quieter and, arguably, much more positive revolution going on in the world of medicine affecting the development of genomics which is getting hardly a mention.

Last year’s passing of the first major milestone of sequencing 100,000 genomes from patients with cancer and rare diseases – all of whom willingly contributed their DNA for sequencing – is truly momentous in the history of medicine. Not that anyone would have necessarily known from the limited media coverage it received.

Those who had the vision to commit to this project back in 2012 are deserving of more public acclaim for getting us to this point. As a frontline clinician for more than 35 years, I have not seen so much optimism about the possibilities this may lead onto in terms of improving care and outcomes – already realised for many cancers and rare diseases and with the capacity to include so much more.

This is, undoubtedly, just the beginning but we need to truly harness the opportunities that genomic medicine potentially signifies for our patients by ensuring it becomes part of routine care where this is indicated. The Academy of Medical Royal Colleges is working, through frontline clinicians representing each College, Health Education England (HEE) and the NHS, to identify the best ways to provide a good understanding of the most appropriate genomic tests as well as the science behind them, where they fit into current medical care and how they can be developed safely in the future.

We need to do more to recognise the infrastructure that the NHS Genomic Medicine Service (GMS) has admirably created so that patients are able to access it fully and equitably cross the whole of the healthcare system and in all areas.

This process includes helping patients to understand the capabilities as well as the risks and limitations of genomic medicine. They need to be aware that genomic testing is no different from any investigation we perform in medicine – it is carried out for a specific indication with clearly proposed outcome actions which are dependent on the result.  Indiscriminate use, at this stage, would be hazardous.

Just as the developing NHS GMS and Genomics England have done an admirable job of describing their work; doctors too should be able to describe and share the benefits of genomic medicine with their patients. Issuing the results and their significance is not yet mainstream and pathways and protocols which are being set up by experts are an essential element of the process.

Big projects, undertaken at speed, in health do not have the best of histories and it will take the continued vision and determination that we have seen so far to make sure the service is sufficiently geared to meet the demand that will surely come: success breeds success.

And on this point too we need to be wary – equity of access based on clinical need must be front and centre of the philosophy that underpins this work. It may seem a minor point, but we cannot ignore the high costs that greater testing may bring and more specific treatment options. Neither can we disregard the risks of skewing what’s on offer towards just those with sharp elbows, money and resourcefulness who are able to acquaint themselves with this nascent branch of medicine.

Last year, the Academy published a celebration of the NHS at 70  if nothing else; it’s a story of remarkable progress, scientific endeavour and, above all, a desire to do our best for patients. When the NHS is eighty and the next list is compiled, the role of genomics will doubtless feature heavily. But, for me the other lesson from the last seventy years is that contrary to popular belief, doctors are not risk averse, they do, however, need confidence that all the bases have been covered to be certain that their patients are not being exposed to undue risk.

Professor Caroline MacEwen

Professor Caroline MacEwen, MD, FRCOphth, FRCS
Chair, Academy of Medical Royal Colleges
Caroline (Carrie) MacEwen is Chair of the Academy of Medical Royal Colleges and immediate past President of the Royal College of Ophthalmologists.

She is ophthalmology clinical co-lead for the Getting It Right First Time (GIRFT) project, a member of the Right Care Clinical Advisory Group and chaired the Elective Care Transformation Ophthalmology Working Group.

She is Ophthalmology Specialty Adviser to the Scottish Government and leads the National Ophthalmology Workstream in Scotland and is a member of the Scottish National Access Collaborative.

She has published more than 150 papers, written or edited 3 textbooks and written 17 book chapters. Carrie is an Associate Postgraduate Dean in the East of Scotland.