What next for Generation Genome?

Philippa Brice

7 July 2017

As the initial media focus on the publication of Generation Genome, the 2016 Annual Report of the Chief Medical Officer (CMO) subsides, it seems worth pausing to examine the CMO’s specific recommendations ‘for how genomic medicine and services in England can be improved’.

Prof Dame Sally Davies first calls for a National Genomics Board to be established by the Department of Health (DH), with a brief to oversee delivery of genomic medicine in the NHS, prioritising patient and public interest; coordination of research efforts; partnering between NHS England (NHSE) and Genomics England (GEL); supporting regulation; and industrial development, including steps to ensure any future Life Sciences Strategy ‘provides funding for the digital infrastructure necessary to make the UK a great place to carry out clinical trials that embed genomics’.

Towards standardised NHS genomic services

Next, the CMO recommends that NHSE proceed with the planned reconfiguration of national genomics laboratory services to ensure equitable patient access across the country. It is unfortunate that she did not choose to commend the existing genetics services for their massive contribution in laying the groundwork of genomics expertise that has brought us to our current world-leading position. Nevertheless, she now calls for a transition to a cost-effective, scalable system of NHS Genomic Laboratory Hubs. Whilst the final details of this national network are not yet public, the CMO notes that its introduction ‘will inevitably mean fewer laboratories doing different types of work’. NHSE is further charged with embedding implementation research supported by NIHR ‘at all stages of service redevelopment and laboratory reconfiguration’.

When it comes to commissioning, a number of issues are highlighted for the attention of NHSE, and of DH with respect to implementation planning for the UK Rare Disease Strategy:

  • The consistent use of standardised Human Phenotype Ontology
  • Access to regularly updated information on when and how genetic testing should be used for clinicians
  • A national network of Multidisciplinary Teams to review and advise on complex and ultra-rare syndromes, leaving regional and local MDTs to deal with more common ‘rare disease’ reviews
  • Annual advice on approved tests and indications from a standing committee of clinicians and researchers
  • Rapid genetic assessment of all patients with severe childhood onset obesity to identify all those with rare inherited forms of disease

Research, research, research

The CMO, who established the National Institute for Health Research in 2006, calls for research funders to seek justification from applicants for any research that does not include genomic analysis – a clear expectation of DNA analysis at all times and in all places. DH is asked to convene a group to agree a ‘national, simple, two-stage routine consent model, acceptable to patients, that allows re-contact for invitation to enrol in research studies and clinical trials’. NHSE, GEL and the Human Tissue Authority are asked to explore the feasibility of offering enrolment in the 100,000 Genomes Project to NHS patients in relevant clinical trials, whilst the Care Quality Commission is exhorted to include opportunities for patients to participate in such trials as a measure of success for NHS Trusts.

Getting the most out of genomics for health

The CMO makes a number of specific and highly laudable recommendations in areas that the PHG Foundation has explored in the past as opportunities to make science work for health. The use of genomics to improve different forms of screening is strongly supported, with proposals that the National Screening Committee evaluate these opportunities, and with support from NHSE also ensure that the introduction of contingent non-invasive prenatal testing (NIPT) is accompanied by an ‘evaluation of the cost-effectiveness of universal NIPT testing for Down’s syndrome and other indications’. The NSC has previously taken a cautious and conservative stance on emerging genomic technologies to improve screening; this, surely, is a green light for prompt consideration and robust evaluation of these possibilities.

Similarly, Public Health England (PHE) is directed to ensure that ‘researchers have easy and quick access to national pathogen, registry and screening data’, a move called for in the 2015 report Pathogen Genomics into Practice, and to work with NHSE on integration with centralised genomics services. A further recommendation (and surely music to the ears of companies such as Oxford Nanopore) is that Innovate UK should prioritise early clinical evaluation of point-of-care genomic testing for serious pathogens.

Calling for changes in attitude

Finally, the CMO recognises the vital importance of appropriate systems, standards and regulations for rapid and responsible NHS data sharing, not least with respect to infectious disease threats. She notes the ongoing need for secure and appropriate data storage, but strongly underlines the enormous value of data sharing for direct and indirect patient benefit. To enable this, she says that it is time to move on from outdated concepts of genetic exceptionalism, pointing out that there are forms of non-genomic medical data (such as sexual history or mental health) that are potentially far more sensitive, and also that whilst genetic differences between individuals are important, our shared genetic heritage is arguably more significant.

NHS patients are not the only group in whom a change in attitude is expected. The CMO turns to health professionals themselves, saying that entrenched beliefs that genomics is only for the far future, or is ‘a potential burden rather than a boon’ have to change, including in public health ‘where genomics can have such a big impact’ – a belief in which led to the founding of the PHG Foundation’s predecessor body in 1997. She therefore calls for ‘a new genomic paradigm to be integrated into all training curricula and specialty training of all clinicians’ – an area to which the Foundation is also actively contributing via the Genomics in Mainstream Medicine project.

It is probably fair to say that the CMO’s recommendations have set some cats among pigeons. They are clearly intended to lay some serious groundwork for the widespread introduction of genomic medicine across the NHS – no small challenge. However, besides the pursuit of wide-ranging benefits in the future, it is good to see her calls for the ‘low hanging fruit’ of immediate patient benefit from genomics that is already possible to be delivered without delay.