Government launches new genomics strategy

The government has launched a new genomics strategy, Genome UK, which sets out how it will create the world’s most advanced genomic healthcare system.

The strategy aims to use the next 10 years to create a genomic healthcare system that will be underpinned by scientific advances to deliver better health outcomes at a lower cost.

“We will do this by working together across our four nations and reducing boundaries between clinical care and research,” said the strategy.

“We will support earlier detection and faster diagnoses, use genomics to target interventions to specific groups of patients, support patients in understanding what genomics means for their health, and bring the full might of our capabilities in this field to bear against new global pandemics and threats to public health.”

It sets out three pillars to achieve this. The first is diagnosed and personalised medicine, where the government plans to incorporate the latest advances in genomics with routine healthcare to improve diagnosis and treatment.

In 2018, health secretary Matt Hancock announced plans to sequence five million genomes by 2023 and roll out genomic testing across the NHS.

The strategy said the NHS England Genomics Medicine Service “will be the first national healthcare system in the world to offer whole genome sequencing [WGS] as part of routine care, delivering on our promise to sequence 500,000 whole genomes”.

The second pillar will see the government focus on prevention through enabling predictive and preventative care to improve public health and wellness and expanding screening in early life and targeted screening, using genomics to improve population health through better screening

“This includes the use of personalised and risk stratified screening and testing of the family members of cancer patients to identify where they are at increased risk of cancer,” the report said. “We also expect to see development of non-invasive pre-natal testing using sequencing to identify diseases.”

The third pillar is to support research and ensure a “seamless interface” between research and healthcare delivery, including focusing on data to support innovation and ensuring diversity and equity of access.

“We believe we can achieve the aims of this strategy because we have all of the ingredients to succeed,” said the strategy, “the commitment at Budget 2020 to increase public spending on research and development by £22bn by 2025, putting the UK on track for 2.4% of GDP being spent on R&D by 2027, a world-leading academic and science base with access to skilled people, and technology and financial expertise to collaborate and deliver maximum impact for patients.”

Announcing the strategy, Hancock said genomics has the potential “to transform the future of healthcare by offering patients the very best predictive, preventative and personalised care”.

He added: “The UK is already recognised around the world as a global leader in genomics and this strategy will allow us to go further and faster to help patients right here in our NHS and give them the best possible chance against a range of diseases.

“The UK is using its expertise in genomics right now to advance our understanding of Covid-19, develop new treatments and help us protect the most vulnerable.”

Hancock himself has taken part in a UK-wide Covid-19 genome sequencing study and called on others who have recovered from the virus to take part by donating blood for the study, which examines genetic susceptibility to the virus.

The study is led by the University of Edinburgh as part of the GenOMICC consortium and Genomics England, which aims to sequence the genomes of 20,000 people who required intensive care and compare them with 15,000 people who did not need hospitalisation.

The data will be compared to people from similar backgrounds to help understand if individuals’ genetic make-up could lead to a more severe reaction.

Mark Caulfield, chief scientist at Genomics England, said it is not yet fully understood why some people are more likely to become very ill with the virus while others have little or no symptoms.

“It is possible that the answer could lie in an individual’s genome and therefore we need people of all ages and ethnic backgrounds affected by Covid-19 to volunteer, so we have the broadest representation across the UK,” he said.

“This will give us the very best chance of discovering whether a person’s response to Covid is influenced by their genetic make-up and if this could identify novel therapies that could help us save lives.”

The government’s genomics strategy is based on a set of principles, including putting patients at the heart of the initiative and encouraging “the availability and appropriate use of data for research and innovation that serves the public interest, while promoting the protection of privacy and data security”.

It also includes enabling patients and the public to have access to their own genomic and health information and have a voice in the use of their data, as well as training the workforce and incorporate robust ethical frameworks, be open to working internationally and adhere “to a common set of protocols and standards to ensure that data, information and samples can be widely accessed and reused for research and health benefits”.

“Over the next 10 years, we will continually evaluate genomics technologies and their applications to bring the greatest benefit to UK patients, ensuring they are implemented into our healthcare system at the earliest opportunity,” said the strategy.

“As we learn more about the role and function of the genome in disease, the implementation of genomic technologies in routine healthcare becomes ever more impactful. Most patients with genetically mediated disease will not be aware that the genes responsible may not yet have been identified and that it is only through detailed further analysis of their genomes that the cause of their disease can be uncovered.

“Concerted efforts will need to be made to facilitate this process for the benefit of patients whose diseases are not yet fully understood.”

Commenting on the strategy, life sciences minister Lord Bethell said the UK has a “proud history as a world leader in genomics”.

He added: “As we face the single biggest global health emergency in our lifetimes, now, more than ever, it is paramount that we harness the potential of genomics, to support earlier detection and faster diagnosis of disease, tailor and target treatments and protect against threats to public health.

“I am confident that the launch of Genome UK – our National Genomic Healthcare Strategy - will help us achieve this.”