Harnessing the health benefits of genomics

By Philippa Brice

28 February 2017


The House of Commons Science & Technology Committee (STC), a heavy-weight select committee that does not shy away from the highly complex issues surrounding topics as diverse as robotics and regulation, forensic science and funding, has set itself a new challenge.

The current Inquiry on Genomics and Genome Editing has a vast scope – to the extent that in February it was announced the inquiry would be split to consider applications in human health separately from those affecting plants, animals and ecosystems, with human health to be examined first.

The terms of reference for this part of the inquiry alone are far from trivial, encompassing the impact of genomics and genome editing on human health ‘with regard to treating disease, avoiding genetic disease and human enhancement’ and the associated commercial, ethical, regulatory and social implications. There will also be specific scrutiny of the 100,000 Genomes Project, investigation into investment in infrastructure and skills and training in the NHS for genomic medicine, and consideration of the extent to which genomics should form part of the forthcoming Industrial Strategy.

It will come as no surprise that the PHG Foundation chose to submit written evidence to the inquiry. And, broadly, our response was positive: we believe genomics could improve the prediction, prevention, diagnosis and treatment of human disease - in some areas it already is.

Only heroic scale long-term research will move us towards a true picture of the functions of our genomes and how they vary between individuals, between different parts of the body and cells, and over time.

The era of genomic medicine is certainly underway, with the early benefits most evident for selected rare disease and cancer patients, but we are a long way from realising the full potential of genomics to benefit health. This will require a comprehensive understanding of the highly complex genomics of health and disease. This is no simple matter. Only heroic scale long-term research will move us towards a true picture of the functions of our genomes and how they vary between individuals, between different parts of the body and cells, and over time. It may be that our current conception of medicine is fundamentally flawed, and that genomics will help us unravel underlying pathological mechanisms leading to the emergence not only of new treatments for disease but even a new classification of diseases.

Our comments to the inquiry were focused on actions to maximise the short and mid-term health benefits of genomics for UK citizens and patients.

Making the most of genomics for infectious disease control

The UK has been a world-leader in the science and application of microbial genome sequencing and analysis for the control of infectious diseases. But despite both research excellence and commercial ingenuity, other countries have been quicker to make use of genomics to detect and track new disease threats and outbreaks, to control hospital acquired infections and to combat antimicrobial resistance (AMR). Our report Pathogen Genomics Into Practice set out the steps needed to make the most of existing excellence; in our response to the STC inquiry we lament that a lack of both funding and leadership ‘has unnecessarily delayed by years the implementation of genomics services by Public Health England’. All is not lost - with appropriate leadership and strategic direction, our response says, infectious disease genomics could still be implemented across our public health and health service systems.

Making the most of the 100,000 Genomes Project

Setting up the 100,000 Genomes Project was a mighty challenge. Now well underway, the initiative has created the beginning of an invaluable biomedical research resource, and yielded some potentially transformative findings for a subset of the participating rare disease patients and their families. However, other rare disease patients will benefit only with the improvement of corresponding clinical services as set out in the UK Rare Disease Strategy.

We also stress that the transition from a research endeavour (with close clinical links) to a comprehensive clinical genomics service firmly embedded within the NHS must be supported by a formal evaluation system that systematically assesses the impact of whole genome sequencing on clinical decision-making and patient outcomes.

Looking further ahead, a clear strategy will be needed to support the collation and sharing of genomic data across the NHS, for both research and for clinical care -  two areas that cannot be functionally separated. Handling genomic data also demands integration of genomic and clinical information and vast infrastructure to maintain and deliver the evolving – and essential - computational technology.

Education, education, education

The final stumbling block that must be addressed to create a worthwhile NHS legacy from the 100,000 Genomes Project is the issue of workforce education. Whilst Health Education England’s genomics programme, for which £20 million was pledged at the start of the Project, offers a range of educational modules and a Master’s degree course in Genomic Medicine, based on our experience in mainstreaming genomics we call for genomics to be appropriately embedded in all medical training curricula - not only in medical schools, but in ongoing professional training for all specialists.

Progress towards personalised medicine

Genomics is the bedrock of precision medicine – targeting treatments based on the susceptibility or resistance of individuals to particular therapeutics, notably for cancer. However there are hurdles to overcome before patients will benefit, namely lack of access to the necessary genomic tests and to the corresponding therapeutics, both due to costs. Our inquiry response also notes the current lack of incentives for the NHS to implement non-commercialisable genomic tests, and recommends a fresh focus on bringing point of care genomic tests into practice, including consideration of the changes they will necessitate in clinical practice and care pathways.

When used in combination with other clinical, biomedical and lifestyle data, genomics has the potential to offer a degree of personalisation in disease prediction and prevention. However, we note, evidence will be needed to demonstrate whether or not genomics really can improve disease prevention as well as diagnosis and treatment.

Genomics is here to stay. What is needed now is cohesive policy impetus driven by politicians who understand the complexities of getting genomics into routine NHS practice where it can benefit patients.

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