Making the most of genomics: supporting clinical research and care

Philippa Brice

10 November 2022


The UK is a global leader in genomic research and healthcare, with the NHS Genomic Medicine Service (NHS GMS) the first clinical service to offer whole genome sequencing as part of routine care for some patients, including for all those with childhood and certain adult cancers. Two new publications focus on the need for action to ensure that the benefits of genomics for patients are properly realised:

Policy developments in genomics

It is widely recognised that genomics offers increasing capacity to understand, predict, prevent, diagnose and manage diseases with greater precision. Advances in scientific knowledge and genomic tools and technologies are transforming not only areas of clinical care, but also ongoing research, ranging from the development of new drugs and therapeutics to potential new approaches to disease risk prediction, screening and prevention.

The recent NHS England five-year strategy Accelerating genomics in the NHS released in October 2022 set out commitments to provide equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases and enabling precision medicine. This new strategy builds on (and aligns with) the broader Genome UK ten-year strategy released in 2020, which also seeks to build on UK strengths in genomics to improve care and accelerate research and innovation, as well as the Data saves lives: reshaping health and care with data NHS strategy of 2021/22.

Few would argue with these laudable ambitions and plans to make the most of genomics for both current and future healthcare, so why should there be a need for further policy scrutiny?

Genomics and precision medicine

Genomic testing can distinguish between cancers that appear similar on the basis of their presentation, but which may have very different genomic features that inform the prognosis and best choices of treatment. Targeted cancer therapies are directed against specific genetic changes in tumours, enabling more precise action to kill cancer cells effectively whilst minimising side-effects.

They include a relatively new group of drugs called tumour agnostic therapies (TATs) or histology independent therapies (HITs), which are approved for use against specific cancer-associated genomic features, which may occur in different tumours. If the genomic change of interest is present in a tumour, the corresponding targeted therapy may be effective, even if the tumour location or appearance is variable. NHS genomic testing is already enabling access to histology independent treatments for cancer patients, but does more need to be done?

Supporting targeted cancer treatments - today and tomorrow

The panel of independent experts behind the new Roche report agreed that NHS England’s plans to implement a new ‘genomics first’ approach to cancer testing are likely to improve patient access to targeted therapies, especially by revealing potentially actionable genetic changes at diagnosis, rather than later in the patient pathway (such as when first-line treatments fail).

They noted the need for clear guidance and support for both health professionals and patients about pathways and developments in genomics and precision medicine, and collaboration in developing new approaches. The new GeNotes oncology resources for health professionals were thought to be one promising source of information for professionals, to help make them aware of new and emerging testing and treatment opportunities for patients and increase equity of access.

However, the experts also felt that this genomic testing strategy needed to inform and enable clinical trial design and patient recruitment, as well as immediate clinical care. The precision of highly targeted treatments makes this particularly challenging, but good data is needed to understand whether they are effective in patients with different presentations of cancer but shared genomic features. To this end, they made a series of recommendations including:

  • ‘Future-proofing’ of cancer panel testing to include not only clinically actionable genomic information, but also information to inform research and clinical trial recruitment
  • Patient consent processes to enable long-term storage and sharing of all genomic information
  • Routes to trial targeted cancer treatments in non-licensed indications and collect data on clinical efficacy
  • Evolving approaches to regulation and evaluation in line with developments in adaptive clinical trial designs.

Thinking big

The Roche recommendations nicely illustrate the need for (even) more joined-up thinking and actions to support ongoing research as well as clinical care. Whilst it is important to distinguish between evidence-based, clinically actionable genomic findings and other genomic information being used on a research basis only, ensuring that clinical testing and practice can feed into research smoothly is beneficial to everyone – patients, health professionals and researchers.

Meanwhile, the ABPI report takes an even wider view, and calls for a UK-wide Genomic Research Collaborative to enable all recipients of genomic testing to participate in research, noting the alarming decline in patient recruitment to clinical trials. It also echoes the Roche findings that at present, access to genomic testing for cancer and potential access to targeted treatments, is limited and uneven.

In theory, the policy pillars are all in place to address these and the host of associated concerns, such as effective collection, storage and sharing of high-quality, interoperable genomic and linked clinical data. The NHS GMS Research Collaborative already brings together NHS England with Genomics England, and the NIHR to facilitate larger-scale genomic research. The Genome UK, Data saves lives and Accelerating genomic medicine strategies all acknowledge these points.

As ever, the strategies, whilst vital, are not sufficient. The proof of the pudding is in the delivery of proposed changes, and many of these challenges are far from easy. However, what remains clear and is emphasised by policy reports and recommendations such as these is that the drivers for change – even at a time of considerable fiscal and operational strain for the NHS – are no less compelling.

 It will not be possible to realise the full potential of genomics for health, even in a country that is currently an acknowledged global leader in genomic medicine and research, without fundamental changes to connect data, research and practice. Therefore, calls for speedy, collaborative, cross-sector working (including patients and citizens) to design robust, resilient approaches that offer health and economic benefits for everyone should continue to be recognised, and resourced.

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