Realising the benefits of pathogen genomics for personal and population health

Dr Leila LuheshiThursday, 2 October 2014

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Infectious disease genomics

Leila is responsible for the delivery of the scientific expertise and analysis that underpin our work.

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At the PHG Foundation, we have been working for nearly a year on a major piece of strategic policy research and development focused on supporting the successful introduction of pathogen whole genome sequencing into the health service to improve the investigation and management of infectious diseases. Low cost, high throughput and fast pathogen whole genome sequencing, when combined with an understanding of the clinical and epidemiological significance of pathogen genomic variation, has the power to transform management of individual patient’s infections and, in particular, the investigation of outbreaks of infectious disease. In our analysis, microbiology services (whose job it is to manage infectious diseases for patients and populations) are likely to be some of the greatest beneficiaries of the ongoing genomics revolution and their patients stand to gain significantly through reduced risk of infection and improved treatment of infections too.

Given the importance of infection control as part of government health policy, with particular emphasis currently being placed on healthcare associated infections, tuberculosis and influenza, the successful implementation of a technology that has the potential to have such transformative effects must be seen as a priority. With this in mind, an early goal of our policy research has been to identify the critical barriers to the successful introduction of pathogen genomics into the health system and to work with stakeholders to find ways to overcome them.

Whilst great strides have been made by researchers in the UK and elsewhere in establishing the scientific and clinical validity of genomics based investigations of infectious disease outbreaks, and even in predicting the resistance of some infectious diseases (such as tuberculosis) to antibiotics, it is our view that their remain significant challenges to be overcome in translating these insights into clinical and public health services that deliver high quality and evidence based care on a population wide and equitable basis.

In our new briefing note, Leading the way: driving the delivery of pathogen genomics into practice we highlight these challenges and what we believe will be an effective way to overcome them, through greater co-operation and co-ordination across the highly fragmented system that is responsible for development and implementation of genomics into the microbiology services that are at the core of any effective infectious disease management system. Whilst we remain optimistic that the introduction of pathogen genomics will ultimately benefit both patients and populations, it remains a concern that unless these significant barriers are tackled head on, and tackled soon, these benefits may take far longer than necessary to be realised or may, in some cases, fail to be realised at all.