UK leads in genomic sequencing but must invest more, warns top scientist

The UK will be unable to take full advantage of its global leadership in genomic sequencing unless the government invests more in expanding its application across the NHS, one of the country’s top scientists has warned.

Professor Matt Brown, chief scientific officer at Genomics England, a government-owned company, told the Financial Times the price of sequencing a whole genome was “plummeting”, having fallen from $1,000 just 12 months ago to $100 today. 

He said that genomic sequencing — where computers are used to transcribe the genetic code of an organism — could be rapidly expanded to tackle a range of health problems.

The technology could, for example, be used for early diagnosis of certain types of heritable illnesses, or to screen for risk of cancer and other diseases, helping to shift the focus of healthcare from reactive to preventive. But Brown suggested the opportunities yielded by the lower cost of sequencing had not been adequately recognised by the government.

In some respects the health service had done “incredibly well”, he said, noting that NHS England’s genomic sequencing programme for people with rare diseases was “the most comprehensive and best in the world”. 

Establishing the 100,000 Genomes Project — a British initiative launched in 2012 to study the role genes play in health and disease — was “one of David Cameron’s great legacies” and the support of politicians “from both sides” for the project had ensured Britain’s “leadership position”. He did not see this “changing any time soon”.

However, progress on applying genetic coding to practical problems on a wider scale would require more capital, Brown said.

Genomically sequencing all newborn babies and everyone over the age of 70 would involve more than half a million people a year and “at the moment there’s no plan [or] pipeline for getting us to that”.

Brown said the government should invest more in rolling out the technology more widely and hiring personnel to analyse the data. This could potentially save the NHS money in the long run while improving public health and increasing lifespan.

The NHS employs clinical scientists to interpret genomes and report on the data. But he said there were “not nearly enough” of them. The hope was that AI would ultimately make a big difference in boosting capabilities “and I think that’s very likely”. However, it had yet to make much of an impact, he said.

“This is one of the few big data areas where analysis is still pretty much a manual cottage industry and there aren’t widely used AI-enabled decision support software tools to interpret genomes either for rare diseases or for cancers,” Brown added. 

The government last week sought to streamline cancer diagnosis and treatment targets to ensure doctors were not overloaded with multiple goals that sometimes slow the pace at which patients receive care.

The move, which Brown welcomed, came after successive years in which the NHS had struggled to efficiently diagnose and treat life-threatening cancers, amid a swelling backlog caused by the Covid-19 pandemic.

From October 2022 to June 2023, 623,000 patients were still waiting for a diagnosis or to have cancer ruled out 28 days after an urgent referral, equating to three in every ten patients.

About 95 per cent of genomic sequencing taking place today is to detect and understand rare diseases and viruses.

Brown said the NHS would need to increase sequencing from about 4,000 people a month today to 40,000. That would enable it to sequence the genome of all newborns and ascertain which diseases they were liable to develop, and to track predisposition to adverse drug reactions in all people over 70.

Several recent cancer studies have shown that genomic mutations leading to cancer can occur several years before a patient is diagnosed with the disease, so if sequencing is used to detect those early, patients could be treated pre-emptively. 

The government said that last year it had announced more than £175mn in new genomics funding, including £26mn for cancer diagnosis. “Taken together, this funding will ensure we can continue to offer NHS patients the most advanced and effective treatments — ultimately saving and changing lives,” it added.