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UK Firm Genomics Sees New NHS Report, Disease Detection Program as Boon to Business


NEW YORK – UK company Genomics believes a recent National Health Service report, as well as its participation in the UK's new Accelerating Detection of Disease program, could support increased adoption of polygenic risk scores into routine screening programs across Britain.

While the Oxford, UK-based company has focused on drug development partnerships to date, it is also keen to see uptake of genetic disease risk screening by the NHS. Earlier this month, the NHS released the 136-page Report of the Independent Review of Screening Programs in England, which favorably discussed the implementation of such tools.

Sir Mike Richards, former chief inspector of hospitals at NHS England, oversaw the report. In it, the NHS specifically references the potential use of polygenic risk scores by the service, calling the testing of multiple genes to create such risk scores "both feasible and more affordable" than in the past.

Genomics CEO Peter Donnelly said the report provided "good recommendations on how to improve current screening programs," noting that his company is poised to contribute to such programs as it develops polygenic risk scores and foresees their implementation in routine care.

"Polygenic risk scores have been a big part of growth at our company," said Donnelly. "We have been using polygenic risk scores to identify individuals at increased risk and to think about how they can be helped with healthcare," he said. "Screening is one natural possibility."

Donnelly, a professor of statistical science at the University of Oxford, cofounded Genomics in 2014, creating a team of specialists focused on building machine learning and statistical tools to turn genomics data into information to guide both the drug discovery process and to create informative risk scores for use in healthcare.

Last year, the company — which employs roughly 60 people across offices in Oxford and Cambridge — raised £33 million ($43 million) in Series B funding and announced a partnership with Vertex Pharmaceuticals, a lead investor. The cash infusion has provided Genomics with money to fund its programs.

"Within Genomics, we have built a data resource by bringing together many different data sources that link genetic variations to outcomes in people," noted Donnelly. "One can use that information to find better drug targets and to find out which patients should receive those drugs," he said. "But we also do risk prediction for common diseases via polygenic risk scores."

Genomics has also worked to combine that genetic data with other disease risk indicators, such as body mass index, cholesterol levels, age, and gender, to create integrated risk scores. The company would like to see the approach adopted within UK healthcare, which is why the new NHS report is so significant for the firm. Also, according to Donnelly, there is a general trend in UK healthcare toward implementing screening programs that rely on genetic risk assessment.

For instance, in July, UK Research and Innovation, a state-supported NGO, announced the £79 million Accelerating Detection of Disease (ADD) program. It is part of the UK government's sprawling, £1.3 billion Life Sciences Sector Deal 2, which was announced last year.

The ADD program intends to recruit 5 million healthy volunteers during a five-year period to support early detection and diagnosis of disease. Goals include the creation of a national resource to enable AI approaches to diagnosis and biomarker discovery, as well as the development and assessment of new diagnostics at scale.

Donnelly has been tapped to convene an expert group for the project and to design a genotyping array. All 5 million volunteers will be genotyped he said. Genomics will also provide polygenic risk scores for a number of yet-to-be-decided diseases as part of the ADD program, he said. The ADD program is currently being set up and aims to start enrolling volunteers in 2021. "We think genetics can have a huge impact in clinical medicine," Donnelly said. "The ADD program is one part of that."

There are signs of a broader shift toward using genomics in screening programs across the UK. Donnelly noted, for example, that it is addressed in the NHS Long-Term Plan, a major proposed overhaul of the service published earlier this year, which lays out the NHS's intention to make genomic testing available to all people with cancer for whom it would be of clinical benefit over the next 10 years, among other goals.

In the report, NHS called genomics a "transformative" area of innovation, noting that genomic testing will be "increasingly available to help diagnosis and treatment." Also in July, the UK Department of Health and Social Care published Advancing Our Health: Prevention in the 2020s,  also known as the "Prevention Green Paper," which specifically calls for "embedding genomics in routine healthcare and making the UK the home of the genomic revolution." The UK government is also set to announce a National Genomics Healthcare Strategy later this year.

"A key part of these plans is prevention, not waiting for people to be sick," noted Donnelly. "It's driven both by a desire to save money and to improve health outcomes for individuals. If we can stop disease or catch it early with improved screening programs, there are obvious cost benefits as well."

The government's increased interest in implementing genomic screening dovetails with Genomics' continued growth. In recent years, it's made a number of high-profile appointments, naming Gil McVean, director of Oxford's Big Data Institute, as chief information officer, and Jeff Barrett, a senior group leader at the Wellcome Sanger Institute, as CSO. The company last year also opened its Cambridge office. Donnelly estimated that about a third of its staffers are based there.

"We are more committed than ever [to the idea] that genetic approaches are incredibly important," said Donnelly of the company's forward trajectory. His firm will continue its work in drug discovery with partners like Vertex, he added, while it drafts new tools for common diseases.