Health economics and genomic testing: threat or opportunity?

The provision of healthcare within any society is determined by a number of independent factors relating to the availability of diagnostic, therapeutic and implementation systems within a defined care pathway. Given that the available resources will almost always be subject to some degree of financial constraint, one of the critical roles fulfilled by a healthcare purchaser will be that of prioritization, with the objective of maximizing the benefit to the defined health economy, given the level of finance available.

This broad principle operates equally at an individual, organizational, regional or national level, allowing rational decisions to be made with regard to optimum use of resources. While personal, societal and political imperatives are likely to influence the final decision, some type of objective assessment of the options helps to ensure that the decisions made are based on a fuller understanding of the consequent implications of that decision: this is the basis of health economic analysis.

Image: Photo by Drew Hays on Unsplash

The health economic analytical process is relatively simple in principle. If, for example, a new approach offers greater benefit than what is currently being done, at an increased cost, all that is required is to ascertain whether the magnitude of additional benefit is sufficiently great to justify the additional cost.

While the details of how this is best determined and ascertaining where this acceptability threshold should lie can prove contentious, it is a straightforward process. When health economics is applied to the use of genomics in the diagnosis and treatment of rare diseases, however, there are complications that may obstruct uptake.

The fundamental problem we face is that we tend to consider “rare diseases” as a distinct group entity, while in reality the category covers a huge range of different conditions, each of which has a unique health economic profile.

We could envisage, for instance, the following scenarios:

  • The rare disease in question is associated with an effective and affordable treatment that can mitigate the risk of serious and potentially expensive long-term consequences. Early diagnosis allows treatment to start earlier, with the added treatment cost being offset by a reduction in long term expenditure. In this situation, the route to demonstrating cost effectiveness is clear.
  • The rare disease in question is similarly amenable to treatment, but this is only available at a very high cost. In this circumstance, the cost of treatment may outweigh the later savings and make the net cost unacceptably expensive.
  • We may be considering a rare disease that is clinically obvious at an early age and, although genomic testing is possible, it offers no advantage over conventional diagnostic approaches. In this circumstance it is difficult to justify the additional cost, in the absence of additional clinical benefit.
  • Finally, we can consider a rare disease that is diagnosable by genomic testing, but which currently has no effective treatment available. While in this situation we can see the personal advantage for the individual patient, from a health economic standpoint this is difficult to justify, although it may help set the agenda for future therapeutic development.

Across the entire spectrum of rare diseases, all four scenarios will be seen. The consequence is that, if we consider rare diseases as a single entity, genomic diagnosis of those conditions that are associated with an acceptable level of cost effectiveness are at risk of being drowned out by those conditions where the figures do not add up.

The danger is that we may conclude that genomic diagnosis of rare diseases is not supportable overall from a health economic perspective, whereas the true conclusion is that the approach needs to be targeted to yield the desired gains. Achieving this will require considerably more work than for a homogenous disease classification. Furthermore, given the low incidence of the diseases of interest, it may be a challenge to identify sufficiently robust data sources to support the modelling process.

Moving forward into the genomics era, early attention must be given to identifying those rare diseases where there is a reasonable expectation of being able to demonstrate cost effectiveness and to concentrate on generating the necessary evidence to support the analytical framework in this subset of conditions.

If we fail to do this, we expose ourselves to the danger that genomic testing, as a whole, is ruled out as an acceptable healthcare investment, thereby depriving many patients of the potential benefits of early diagnosis.

Jonathan Belsey, Managing Director of JB Medical

About Us



Partners & Members

  • Join Us

Language Editions

Privacy Policy & Terms of Service

© 2024 World Economic Forum