Future-proofing UK diagnostic capacity for stratified medicine
2 September 2014
The Medical Research Council (MRC) has released a new document examining the UK’s molecular pathology capacity, and in particular changes required to create a robust system that will support increasing need for diagnostic testing.
Molecular pathology is defined as the understanding of the origins and mechanisms of disease at the macromolecular level – primarily from analysis of DNA, RNA and proteins. The particular focus of the review is in examining the application of diagnostic testing from patient tissue or body fluid samples to underpin medicine.
Stratified or precision medicine refers to the increasing move towards disease classification on the basis of genetic and other molecular characteristics. Identification of a disease sub-group can inform not only diagnosis and prognosis, but in many cases also treatment choices. A growing class of therapeutics, especially for cancer, are targeted at diseases with specific molecular features, and therefore require a companion diagnostic test to determine their suitability before use in a given patient.
Taking into account the genetic features of patients such as their response to specific medicines can also further tailor treatment decisions, increasing efficacy and decreasing side-effects. The MRC’s new Molecular Pathology Review concludes accordingly that patient stratification ‘has the potential to deliver significant health and economic benefits’.
Dealing with diagnostics development
This view is shared by other Government and charitable funders, who together have established the Stratified Medicine Innovation Platform and made substantial financial investments in this area in recent years. The need for new diagnostic tests and strategies in order to realise the benefits from this work promoted the new review, which identified three broad areas of concern:
- In contrast with the development of novel therapeutics, there is not a defined or coherent pathway for the development of novel diagnostics.
- Work to develop novel diagnostics in the academic, industrial and health sectors lacks coordination, creating a fragmented environment.
- There is an outstanding need for complex diagnostic tests and mathematical algorithms to characterise disease strata.
Recommendations to address these issues are dubbed:
- Path - mapping of the diagnostic development pathway, including the relevant regulatory, evaluation and commissioning organisations involved.
- Proximity - bringing academic and industrial research closer with pathology services and test development.
- People - enhancing the skills base in the UK by ‘developing future research leaders in pathology and increasing capacity in data analysis and health economics’.
Making it happen
Importantly, the MRC has the financial capacity to take forward their recommendations on this issue and to make some of these changes happen. To this end, the MRC along with the Engineering and Physical Sciences Research Council (EPSRC) are contributing a total of £17.5 million to create several regional Molecular Pathology Nodes – centres of excellence for both clinical and research skills in diagnostics development and service delivery with a common infrastructure. The report correctly observes that ‘early engagement between the academic discovery and clinical communities could increase the likelihood of tests addressing true clinical needs, in turn increasing their likelihood of adoption’.
This is all well and good, as far as it goes. Closer alignment (and additional funding) for diagnostics development can only be a good thing, especially with the promised ‘industry involvement’. However, it does nothing to address the recommendation to map (let alone reform) the developmental pathway for diagnostics.
Whilst the UK Genetic Testing Network (UKGTN) evaluates genetic tests for rare inherited diseases and can advise commissioners on their value, and NICE is able to evaluate a certain number of genetic tests which are CE marked and have the potential to offer substantial benefits for the NHS, the report itself acknowledges the absence of a national body for the routine evaluation of genetic tests, companion diagnostics and other forms of diagnostics for common conditions which are or could be used by the NHS. Such a body will need to include laboratory developed tests as part of its process. The US has recently taken steps to update their own evaluation process for laboratory developed tests in the light of companion diagnostics and other developments in stratified medicine.
Foundering through false economy?
The MRC report hopefully concludes that the ‘current Department of Health-led review of the role of the UKGTN suggests that evolution in this area is possible’. Actually, for the health benefits of stratified medicine to take effect in a significant way within the UK, evolution is more essential than possible, the alternative being stagnation. But who will fund and carry out this work? And when? Investing money in more research, even into boosting collaborative and cross-sector research and development, can only go so far.
The development of a twenty-first century, fit-for-purpose system for the evaluation and commissioning of the full range of diagnostic tests for NHS use should be set in motion, and with adequate resources. These would amount to a tiny drop relative to the significant ocean of resources that have already been committed to innovation and discovery in this area. Without this, the health benefits of the new genomic and stratified medicine may remain sadly remote for much of the population.