4 July 2017
The important annual report of the Chief Medical Officer (CMO) for England, Prof Dame Sally Davies, has been released today, and it is focused solely on genomics. Generation Genome sets out a vision for the future of genomics in terms of research excellence, NHS practice, and maximal patient benefit.
Not surprisingly, the 100,000 Genomes Project and the potential it offers to improve diagnosis and care for patients with rare diseases and cancer loom large in the report. The CMO says she is proud of the achievements of the 100,000 Genomes Project (currently at over 31,000 genomes sequenced) and the ‘significant transformation and standardisation within the NHS’ it has already heralded, but warns that a ‘concerted effort’ is needed to deliver the vision of the project, against increasing international competition.
There is a broad overview of opportunities for precision medicine, in rare diseases, cancer and beyond. The Sanger Institute’s ground-breaking Deciphering Developmental Disorders study is highlighted in the chapter on rare diseases, whilst another chapter by an author from Vertex Pharmaceuticals (which has a portfolio of drugs to treat cystic fibrosis) discusses the development of novel treatments for severe genetic diseases. Cancer merits a chapter relating to diagnosis, whilst a chapter on therapeutics examines the potential genomics offers for targeted cancer treatments; the CMO emphasises the need for ‘new models to replace the old “one size fits all” approach for developing, prescribing and evaluating new cancer drugs’. The same chapter also covers discovering new therap eutics for other conditions, re-purposing existing drugs to treat new conditions, and providing personalised medicine by way of choice and dosage of drug for a given patient.
An entire chapter of the report is devoted to genomics and obesity, the subject of a 2013 PHG Foundation report; the CMO echoes the conclusion that clinicians must recognise that a significant proportion of children with severe early onset obesity may have a rare genetic disease. For the wider population, variable genetic drivers are acknowledged but the CMO firmly advocates public health action on the prevailing ‘obesogenic environment’ to combat the wider problem of obesity.
She next turns to the subject of personalised prevention with a chapter by PHG Foundation founder and Chair of Trustees Dr Ron Zimmern, which sets out the need to embrace not only population-based approaches to disease prevention but also the more personalised opportunities to predict and prevent disease in the individual. Additional chapters on newborn screening and non-invasive prenatal testing set out other important areas where genomics has provided major impact for health – and which the Foundation has examined in detail in the past. Similarly, the potential of pathogen genomics to transform the management and control of infectious diseases (as set out in the 2015 Pathogen Genomics Into Practice report) merits another entire chapter.
The Report emphasises the need for ongoing investment, both to maintain and further expand the UK’s position as a global leader in genomics research (said to be exemplified by the Genome Campus outside Cambridge), and in health services to ensure that patients benefit. Indeed, it is emphasised that ‘the more [research] can be integrated into the health system the better’. The CMO explains she wishes to see an environment that supports world-leading researchers and clinicians and a ‘genomic literate’ workforce. The need for genomic literacy was acknowledged when the 100,000 Genomes Project was launched; dedicated funding led to the provision of specific courses for NHS professionals by Health Education England including a Masters degree in Genomic Medicine. Mainstreaming genomics for clinicians is an issue that the PHG Foundation has long considered important, including supporting the production of educational resources for specialised clinicians.
Expanding on the theme of integration of genomics into routine medical practice, the CMO notes requires both ‘systems and a workforce equipped and prepared to handle the scale and complexity of genomic data’. A whole chapter is devoted to the thorny problems of solving these data challenges (another area of focus for the PHG Foundation), and another on the economics of genome sequen cing; the CMO also emphasises the need to offer ‘cost-effective treatments sooner to those patients who can benefit the most' .
She shrewdly observes that, whilst implementation at scale and decommissioning of outdated practices are vital elements in achieving cost-efficacy for genomics,‘we have never been good at stopping things in the NHS when outdated’. To combat this, and to ensure equity of access to genomics for patients across the country, she proposes a new national genomics laboratory structure, national standards for defining patient phenotypes, and standardised provision of genomic services for national commissioning, among many other practical policy recommendations.
All in all, this is an excellent report, combining as it does a summary of what the future may hold thanks to genomics with practical steps needed for the country to maintain and consolidate its international reputation in research and clinical practice, and get the most from genomics for the benefit of people and populations. Whilst some of her proposals may provoke considerable debate (of which more later), they nevertheless manage to combine inspiring vision with robust pragmatism – which is not easy to achieve.