Getting generation genome into the NHS
23 October 2017
Last year saw a major inquiry by the House of Commons Science and Technology Committee into Genomics and Genome Editing.
Brought to a hasty close by the election, an interim report recommended areas for future investigation, including several highlighted by PHG Foundation evidence to the inquiry, such as the need to properly evaluate the overall performance of the critical 100,000 Genomes Project against original objectives, funding and timescales; to examine the transfer of responsibility for (and progress of) infectious disease genomics to Public Health England; and to consider NHS preparedness for the incorporation of genomic testing and analysis into mainstream genomic medicine.
With the new Parliament, the newly reformed Science and Technology Committee has resumed the inquiry, but with a reframed focus on Genomics and Genome Editing in the NHS, looking in particular at the recommendations of the Chief Medical Officer’s Generation Genome report released over the summer. The PHG Foundation has already commented on various aspects of the report (to which our Chair of Trustees contributed the chapter on Personalised Prevention), and naturally has responded to the latest call for evidence.
Putting data sharing at the heart of genomic services
The CMO made several recommendations on the reconfiguration and oversight of national genomics services, which PHG Foundation evidence broadly supports, especially the call for a ‘secure central data platform’ to underpin the services. We note that ‘the current absence of a dedicated NHS database to facilitate [genomic data aggregation and sharing] is arguably the single greatest impediment to delivery of patient benefit from genomic medicine in the NHS’ and emphasise that all data infrastructure and systems must fully support genomic data sharing.
Hear the CMO talk about her vision for Generation Genome at Healthy futures: genomics and beyond
Comprehensive digitisation of NHS records is an essential first step towards this, and we warn against the assumption that the existing 100,000 Genomes Project infrastructure is appropriate. Rather, a new data platform is needed, an evolving computational system that can cope with ‘the collection, analysis, interpretation and storage of genomic data; integration with clinical records; and sharing between NHS providers’. Similarly, systems and standards need to ‘keep pace with scientific and technological developments’
Preparing for change
Anticipating change is also important; we point out that in genomic medicine ‘clinical decision making is constantly evolving as new data linking variants and disease emerges’, hence the need for data sharing. One important implication of this is that there is a need to reanalyse and reinterpret data over time, and potentially, to re-contact patients in whom clinically actionable new findings might be made.
Additionally, the distinction between research and clinical care can be very blurred, requiring a suitably flexible ‘hybrid’ model of patient consent for both clinical care and ongoing research. This in turn may be problematic if there is insistence on tighter restrictions of access to genomic data for research. It also prompts our support for current efforts by the Information Commissioner’s Office (ICO) to develop ‘context-specific safeguards that are proportionate to the potential harms resulting from data use (or misuse)’.
Promoting public health and engagement
Proposals for wider public engagement to ensure understanding of genomics meets with our approval; the 100,000 Genomes Project has laid a good foundation for productive public engagement by raising the profile of genomic medicine, but we call for ‘a clear focus on public understanding of the need for genomic data sharing within the NHS, for both direct/individual and widespread benefit’. And when it comes to moving from the Project itself (as a primarily research-driven enterprise) to embedding genomic medicine in the NHS, we propose a formal evaluation of the Project is undertaken, to ensure maximum learning is derived for future NHS deployment.
Making the most of genomics for individual and population health via Public Health England also elicits enthusiastic support from PHG Foundation, especially the CMO’s suggestions for a ‘thorough evaluation of new and emerging opportunities for genomic screening’, the possible introduction of universal DNA-based non-invasive prenatal testing (NIPT) – as opposed to use only in higher-risk women – and most of all in support of genomic pathogen data sharing to combat infectious diseases. Our own Pathogen Genomics Into Practice report calls strongly for PHE to provide a national database with interoperable standards for sharing of data from microbiology laboratories, to maximise the speed and clinical utility of research. We also agree on the need to support international cooperation in sharing genomic research and health intelligence data for infectious disease threats.
Ensuring equity of access
To make these efficient modern genomics services accessible to all patients, we also call for co-development of standardised referral processes and test reports to enable all mainstream clinicians to appropriately and confidently order genomic tests and use their results to inform clinical management decisions. A call that is based firmly on our work with mainstream clinical champions in genomics, and the findings from a recent workshop looking at these very issues are due out soon. Similarly, we note the need for co-development of support systems with planned NHS end-users, and for a resolution and clear communication with respect to current uncertainties over legal issues relating to data sharing.
We welcome the report’s emphasis on education and agree there is a need for basic genomic literacy, understanding of the potential medical benefits, and competency in test interpretation and clinical actionability among health professionals, at all levels of specialist training. We also suggest a clear distinction is made between 'courses offered to early adopters and enthusiasts’ (such as the HEE Masters in Genomic Medicine), those aimed at mainstream health professionals, and those offering other forms of specialist training, such as in bioinformatics.
Finally, we also would like to underline that NHS commissioners must allocate additional resources for cost-effective genomic diagnostics that can improve the quality and volume of care delivered via the new service, particularly where this will introduce not only new testing costs but also a requirement to change existing patient pathways. Without addressing these issues, clinicians will be unable to access the tests and the changes in clinical practice required for patients to benefit from genomic medicine cannot be delivered.
Keeping it real
Overall, it is great that the new Science and Technology Committee are giving these issues scrutiny. The aspiration that the NHS lead the world in genomic medicine can be realised, and the will is there (as evidenced by the high-profile attention and ongoing promotion of genomics in the NHS) - but only careful attention to the less glamorous realities of practical implementation will see these plans succeed.