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'Delivering the genomic dream' will require digitisation of health systems, says expert


Health systems in the UK and across the world must be "fully digitised" to realise the potential of genomics medicine, an expert in life sciences has said.

Helen Cline of Pinsent Masons, the law firm behind Out-Law.com, said genomics is already playing a role in informing the development of new drugs. However, she said it has the potential to revolutionise the way health care is delivered if allied with new digital technology.

Cline was commenting after the UK's chief medical officer, professor Dame Sally Davies, outlined a vision to put genomics at the centre of more personalised health care (256-page / 5.08MB PDF) in the country.

Davies said that there are believed to be "over 10,000 potential drug targets in the human genome" and she described this as a "potential goldmine" for influencing the development of new treatments, including where there are "areas of unmet medical need".

"We are already seeing a convergence between the life sciences, healthcare and technology sectors," Cline said. "Alliances between companies in these sectors, adopting a multi-disciplinary approach and using connected health solutions, are integrating knowledge, including genomic data, from multiple sources to inform drug development, reduce inefficiencies, improve patient outcomes and reduce the cost of care."

"However, a more fully digitalised and joined up health service in the UK and internationally is essential for the greater integration of knowledge from genomic and other data sources into patient care and drug development strategies anticipated by the report. It will also be critical to get agreement on international standards for using and sharing personal data that are acceptable to patients," she said.

Cline also said that existing regulatory and health technology assessment processes and policies "need to evolve in new and innovative ways" because, currently, they are seen as "a barrier to patient access to new medicines".

This view, she said, was supported by comments made by UK government ministers and Erik Nordkamp, UK managing director of Pfizer, in the media on Tuesday.

Health secretary Jeremy Hunt and business secretary Greg Clark stressed the need for innovators to "be able to get their products into the UK market as quickly and simply as possible" post-Brexit, in a letter to the Financial Times.

Nordkamp said there were issues other than Brexit that the industry wanted to see addressed and spoke about the fact that patients in the UK are not getting access to new drugs on the BBC's Today programme. Last month, in draft guidance, NICE said Pfizer's drug Besponsa, for treatment of leukemia, was too expensive for use on the NHS, despite the drug receiving regulatory approval.

Cline said: "The speed of decision-making, both regulatory and funding, affects how quickly patients can access new medical technologies."

She said Dame Sally's report echoed the recommendations for a 'patient first' approach to health care innovation, as well as a shift towards personalised medicines and increased use of new digital technologies to capture patient data, contained in the UK's Accelerated Access Review published last year.

Dame Sally's report discussed the current state of genomic service provision in the NHS in England. It explored the potential of genomics to improve health and prevent ill-health.

Dame Sally advocated reforms to genome testing laboratories across the UK in a bid to move away from what she called a "cottage industry" of specialisms to a standardised and streamlined national system for genomics which is "scalable, future-proof and delivers value for money".

"The aim must be an equitable service with higher throughput and at a lower cost than is currently achieved," Dame Sally said. "This can only be done through national standards and centralised genomic laboratories and related services."

"Under this new model DNA sequence data produced centrally would be distributed via a central database to local NHS Genomic Medicine Centres, where NHS staff, often supported by their colleagues in academia, will be responsible for the interpretation of the DNA sequencing results. The longer this system is in place the better it should become for patients; the consistent reporting will be increasingly supported by knowledge about the DNA sequence, which flows from regularly updating and analysing the central DNA database," she said.

The new system would require health professionals to work more closely with people with digital skills, such as diagnostic staff in laboratories and imaging; computer scientists; statisticians; (bio)informaticians; and data scientists, she said.

"This is not a fantasy future," Dame Sally said. "The 100,000 Genomes Project has already shown that the reading of the entire DNA code (Whole Genome Sequencing) to clinically-accredited standards can be delivered at high throughput from a single modern sequencing laboratory in England. We are also seeing a similar process taking place, for the benefit of patients, in other services such as x-rays and imaging results."

There have already been examples of the potential for genomics medicine being tested in the UK. The 100,000 Genomes project was set up by the Department of Health (DoH) in 2012 in an aim to sequence the DNA of 100,000 people by 2017 as part of research into the treatment of a number of chronic illnesses. 

In 2015, it was announced that ten pharmaceutical and biotech companies were to collaborate with Genomics England in analysing genetic data from the 100,000 Genomes project. At the time, Cline stressed the importance of addressing ethical issues inherent in genomics.

In her new report, Dame Sally also highlighted the ethical challenges that must be addressed, and said getting on top of those issues would be necessary for genomics medicine to become mainstream. Dame Sally said there is a "need to revisit the narrow model of patient confidentiality in which a patient confides intimate personal information with a health professional".

"Whilst this is still a major element of genomic medicine we also need to explicitly acknowledge the importance of linking data on a national, and even international, scale in order to give patients with rare diseases a diagnosis or to identify rare genetic changes in common disorders," Dame Sally said. "This means that the NHS – supported by the public, government and regulators – will need to develop an arrangement for handling genomic data that is acceptable to patients."

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