Equipping clinicians to embrace genomic medicine

By Hilary Burton

19 July 2017


Generation Genome, the CMO’s recent wide-ranging report on genomics, is well named. As a society keen to get the best out of health and healthcare, we must embrace a new era of genomic medicine, where staying healthy, understanding and treating disease will be informed by a molecular level knowledge of biology.

Prof Dame Sally Davies calls on many sectors to achieve this: researchers, regulators, healthcare providers and the commercial sector; and she specifically appeals to citizens for a new willingness to share personal data – the bedrock of genomic knowledge. But her calls to clinicians and those who train them are arguably the most urgent. For whilst all the chapter authors, in describing the various advances and applications – in cancer, rare disease, infectious disease, therapeutics or prevention - enthuse about what could be done, implicit in their descriptions is the need for a different ‘genomically informed’ encounter between a healthcare professional and the individual.

Counting on clinicians

The 100,000 Genomes Project has, indeed, provided impetus and the proof of principle that ‘the reading of the entire DNA code (Whole Genome Sequencing) to clinically – accredited standards can be delivered at high throughput from a single modern sequencing laboratory’. Though an immense achievement, this is a far cry from the integration of genomic testing into clinical decision-making that must be practised on a day by day basis by clinicians around the country and in every clinical specialty. Put plainly, wherever they work and with whichever group of patients, the doctor needs to know which patients might benefit from genetic testing, how to work with the testing services to ensure a useful clinical result, what to do with that result and how to communicate effectively with the patient at all stages.

The CMO describes modern genomic science evolving into a new concept of the ‘clinical team’, including diagnostic staff in laboratories, computer scientists, statisticians and bioinformaticians, with review of results by multidisciplinary teams to advise on diagnosis and treatment. Such tests may be likened to other diagnostic services such as imaging, neurophysiology or immunology, and in all cases the science behind the tests and the expertise required both to undertake the test and interpret the results is immensely sophisticated and requires long years of experience.

Most clinicians do not need to understand how genomic sequencing is done or the results produced any more than they do for other investigations, but they do require the knowledge and skills to provide the necessary supporting clinical information, to engage with the uncertainties that may form part of the discussion and to be their patient’s advocate throughout – both understanding what genomics can and can’t do. All this means that genomics has to be a central part of medical training and not relegated to a small specialty to which most doctors have minimal exposure and which they go forward believing is complex (and expensive).

Embedding genomics in medical training

The CMO has provided a wake-up call that genomics must become a central part of medical education. Alongside anatomy, physiology, biochemistry, pathology – it must become part of basic preclinical education and continue as a foundation of clinical training right through to specialist training and CPD. She calls on regulators of medical education to ensure that clinicians are equipped for future genomic eras, and for Royal Colleges to ensure this training is built into CPD and revalidation.

Now is an opportune time to consider what physicians in training will need to be doctors of the future. The whole structure of training needs to change, as pointed out by Professor David Greenaway in his Shape of Training review, to provide a more flexible versatile workforce, able to provide clinical care across a wider patient base, able to develop skills across a number of related specialty areas – able to retrain or to work in tertiary, secondary or primary care settings. With this in mind the curricula are being reviewed now – aiming to be ready in 2020.

Mainstreaming genomics

Surely genomics needs to be part of that wide and flexible core? Through our leadership of the JCGM Working Group on Genomics in Mainstream Medicine, PHG Foundation has worked with clinicians from 20 different specialties. All are champions of genomics in their specialty, but frustratingly aware of the broad deficiencies in understanding that exist across the speciality as a whole – deficiencies that will be crucial barriers to the adoption of genomics. We have already produced resources that provide an introduction to the relevance of genomics in 13 different specialties, but for our champions the ultimate aim is to get genomics into the curriculum of doctors in training and particularly those who are going through the 5 or 6 years to become specialists. But for this, we need active engagement from the Royal Colleges and bodies such as the Joint Royal Colleges of Physicians Training Board (JRCPTB) with responsibility for oversight of the curriculum and training programmes.

A call to action

Implementing genomics into mainstream practice is about high quality, safe medicine that is fit for the 21st century. This will not be achieved by rapid and disruptive transformation, but by the steady and thoughtful development of good diagnostic practice in every clinical specialty. It requires clinicians to have the ‘headspace’ to undertake the necessary leadership work and for all clinicians, whether in early training or well established practice to develop new skills and be willing and able to implement them in their everyday practice. Those charged with medical training at all levels and with implementing a genomic medicine service across the NHS need to work together to equip our clinicians for the future – starting now.

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