100,000 genomes – what’s the future?

The NHS has achieved David Cameron’s vision of sequencing 100,000 genomes, with practices playing a key role in the project. It’s establishing the NHS as a global leader in genomic medicine – but what does this mean for patients, the health service and for medicine – now, and in the future?

 In October 2018, Matt Hancock announced that the UK had sequenced the genomes of 100,000 patients with certain cancers and rare diseases. The news was greeted enthusiastically by former prime minister David Cameron, who tweeted his delight at the announcement that the original programme had reached its 100,000 goal – albeit a year later than originally planned.

Launched in 2012, the ambitious project uses whole genome sequencing technology to analyse the DNA of patients with rare inherited diseases and cancers. Speaking in 2014, Cameron said, “I believe we will be able to transform how devastating diseases are diagnosed and treated in the NHS and across the world, while supporting our best scientists and life science businesses to discover the next wonder drug or breakthrough technology.”

At the October announcement the secretary of state set out a new target to sequence 5 million genomes in the UK over the next 5 years. At the same time he also announced the launch of the NHS Genomic Medicine Service which will offer all seriously ill children and adults with certain rare diseases or cancers the opportunity to have their whole genome sequenced as part of their care from 2019.

“I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health,” Matt Hancock said, speaking at the launch.

The future of genetic medicine is exciting – with the UK, arguably, the world leader – but there are questions about how capable the NHS is at managing the data gathered and how informed patients are at giving their consent – particularly with the NHS hoping to sell access to the database to generate much-needed funds.

Life-changing results

Since 2012 patients with certain rare conditions have been invited to take part in the programme conducted by Genomics England. Those patients who consent allow Genomics England to analyse their 23,000 ‘active’ bits of genetic code, comparing this to ‘gene panels’ on which scientists have identified genes associated with certain medical conditions.

The UK government has invested £300 million to date in its attempt to analyse the genetic code of patients (and, in some cases, their parents too). Overseen by thirteen NHS Genomic Medicine Centres (GMCs), the analysis is completed by a state-of-the-art sequencing centre in Cambridge, with the results automatically returned to the patient’s care team. Since the project was launched, Genomics England says that it has delivered ‘life-changing’ results for patients, with 1-in-4 people with a rare disease receiving a diagnosis for the first time.

The project is genuinely ground-breaking, with the UK the first nation in the world to apply whole genome sequencing, at scale, in direct healthcare. By understanding the DNA of patients, doctors are better able to identify those at risk of certain diseases which, in some cases, can aid prevention and a detailed insight into the genes can enable better personalisation of treatments, giving patients the best chance of recovery.

Primary care has played a pivotal role in the success of the project, identifying, educating and supporting patients and their families. Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, is keen to thank all of those who have taken part. “This achievement has only been possible because of the amazing commitment and contribution of NHS teams across the country and I would like to thank each and every one of them for rising to this challenge and excelling in its delivery,” she said.

Harnessing the power

On its website, NHS England declares its role as harnessing thepower of genomic technology and science to improve the health of our population’. The opportunities for identifying and treating rare conditions are clear, with the NHS aiming to become the ‘world-leading healthcare system’ using genomic technologies to predict and diagnose inherited and acquired diseases, and developing the ability to personalise treatments and interventions.

The push toward genomic medicine is driven by patient care, but there’s a financial imperative too. In the cash-strapped NHS, opening up the world’s biggest – and most integrated and informed – genomic database could be massively profitable. NHS England is clear that there are ‘significant benefits’ that can be ‘leveraged’ by opening up this database to the world’s biggest spending pharmaceutical companies.

This may come as surprising news to 82% of the British public who have either never heard of ‘genomics’ and/or have little understanding of it. Norman Lamb MP, chair of the common’s science and technology committee, noted ‘potential public concerns over sharing personal health data’, and called upon the NHS to invest more in patient education.

Lamb also acknowledges that patients may fear the security of their data, calling upon the NHS to develop ‘a robust consent process and improve public knowledge about genomics’. The expansion of the programme comes at a time when the NHS is already dealing with the negative publicity and data concerns of DeepMind’s shift of patient data to Google, and Genomics England being called upon to publicly deny that it’s DNA database had been targeted by hackers.

Genomic medicine has a promising future, with the NHS is committed to embracing its potential and power. There are clear benefits for patients in developing new, and more personalised, treatments; in the future, DNA testing may be able to identify those at risk of developing certain conditions before they have an impact.

The potential for predictive medicine raises significant moral questions that the NHS has, as yet, failed to answer completely. Politicians and patients are hoping that effective regulation, control and protection of personal data are all being developed as quickly as the technology.

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