Health of the nation: why genomics must be made to deliver

Lucia von Bredow

8 May 2014

At the PHG Foundation, we want a world in which science works for health by making the benefits of innovation in biomedicine and genomics universally available. We believe that this is something worth fighting for, and that now is the time to do it - we have started engaging with the three major UK political parties to ensure that genomics is part of the new programme for Government in 2015.

With the potential to deliver cost-savings as well as improved care, genomics could (and should) be delivering health benefits more widely across the NHS. That's why we are currently producing our own manifesto, where we will be challenging the parties to incorporate a strategy for genomics into the public health strands of their vision for Government.

With the health of the nation at stake, genomics must be made to deliver. Here are three reasons why:

1. Delivering benefits to patients and the NHS

Whole genome sequencing (WGS) , together with whole exome sequencing (WES) and our evolving knowledge of genes and disease, has the potential to change the practice of medicine and public health by facilitating improved genetic testing, and underpinning more accurate diagnosis, prognosis, prevention and management of disease.

  • WGS and WES are providing molecular diagnoses to many rare disease patients for whom existing genetic testing was either unavailable or unsuccessful. Genetic testing can make diagnosis quicker and more efficient. Increasingly we can treat these conditions, but even where this is not possible we may be able to predict and prevent disease in family members and help couples make decisions about reproduction. Simply diagnosing and naming a condition offers significant psychosocial benefits to patients too.
  • Testing can already be used to identify subsets of cancer patients whose tumours have specific genetic features that mean they will respond to targeted therapies (e.g vemurafinib for melanoma), a practice that is expected to expand.
  • Whole genome sequencing of pathogens significantly improves our ability to track down the sources of outbreaks in our hospitals and in our communities. This enables more effective infection control, reducing the number of infections and saving money.

2. Genomic healthcare - it's a public health priority too

We are increasingly familiar with the concept of personalised medicine. In the same way, personalised prevention recognises that people differ in their risk of disease and in their likely response to preventive interventions. Using genomics could improve current risk-stratification of populations and improve targeting of preventive interventions towards those at greatest risk.

  • Targeted prevention allows resources to be directed to those in most need, maximising health benefits and minimising harms.
  • Improved understanding of interactions between genetic and environmental factors in disease risk might help to identify individuals who would be particularly susceptible to disease given a particular exposure.
  • Eventually, better understanding of the molecular characteristics underlying disease aetiology could enable stratified, disease-specific prevention programmes - such as more accurate screening or prophylactic drug, dietary or even surgical interventions.

3. The UK is ready for change

The foundations for realising the true potential of genomics for public health and medicine are in place; now we need to build on them.

  • The Human Genomics Strategy Group, a cross-departmental group, was set up in response to the House of Lords report on Genomic Medicine to develop a strategy for genomics in the NHS and oversee integration of genomic medicine into mainstream healthcare.
  • This has led to a national policy emphasis on medical applications of whole genome sequencing; the 100,000 Genomes Project has brought the issue to the fore, and sequencing technologies are faster and cheaper than ever before.
  • The NHS and research communities already have considerable expertise necessary to deliver improved care. National expertise in clinical genome sequencing, analysis and clinical and public health application already exists as a general framework and can inform wider implementation - there just needs to be a strategic effort. We believe that by making a meaningful commitment to incorporate a genomics plan into healthcare on a national level, the UK can become a frontrunner in the global movement to a more personalised approach to healthcare. It is our hope that the new Government will rise to this challenge - and over the next few months, we will be explaining exactly how we can help them achieve that goal.

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