Don’t oversell 100,000 genomes project, experts warn

The UK’s much-vaunted 100,000 genomes project is a ground-breaking initiative, but significant obstacles remain before it can have an impact on patient care, according to experts.

Life Sciences Minister George Freeman told the Astellas Innovation Debate yesterday evening that the project – which went live last November – could, in the future, be seen as having an effect on gene-based medicine equivalent to that seen on space exploration from the creation of NASA.

Genomics and big data are transformational technologies that can improve patient care and help the UK make sure it “uses every health pound spent more precisely” he said.

The 100,000 genomes project was first unveiled in December 2012 with the aim of improving the understanding of how genes affect rare inherited diseases and cancers, as well as guiding the development of new diagnostics and treatments.

The sequencing of 75,000 genomes among patients with rare diseases and cancer is expected to be completed by 2017, allowing scientists to explore their genotypes in the context of anonymised health records, to create “the world’s first at-scale database for genomic medicine”.

The project – and importantly integrating it into the NHS as a patient service – is a “once in a lifetime opportunity” that could allow the NHS to become a global hub for genomics research, he added.

Cancer specialist Rolf Stahel, who is president of the European Society of Medical Oncology (ESMO), welcomed the genomes initiative but injected a note of caution, pointing to the significant delay between the discovery of new genetic relationships with cancer and the availability of therapies that can address them.

“I can share the enthusiasm for gaining knowledge, but one should not make too many promises,” he noted, pointing to the discoveries already made in cancer with the identification of oncogenic mutations that while improving therapy and extending life “in no instances yet have resulted in a cure.”

Doctors and other healthcare workers must also be prepared to interpret the data that could be generated using this approach – which is not easy – and it is important that patients are not allowed to become overwhelmed and anxious about genomic read-outs that cannot really lead to any concrete action.

“Patients need to understand that today there are only a few instances in which the genomic findings are actionable,” said Stahel, noting that for lung cancer only around 15 per cent of patients have a mutation that can be addressed by a registered drug that – crucially – is reimbursed by the healthcare system in their country.

Several panellists pointed to the data protection implications, including Baroness Helena Kennedy of the Patients Association who pointed out that the data should not leave people open to exploitation by those wanting to sell them products or services or, indeed, to discrimination in terms of employment, health insurance or other factors.

On concerns about the potential for patients’ sensitive health information to be misused, Freeman insisted that the 100,000 genomes data “will be a reference library, not a lending library”, with tight controls on access.

Tom Fowler of Genomics England, which is overseeing the 100,000 genomes project, also noted that a major facet of the initiative is to learn how to use whole genome data in a healthcare setting.

“It is a real challenge to work out how to take this data and apply it to patient care,” he said.

A fair amount of discussion during the debate focused on whether whole genomics screening can be affordable and cost effective in terms of delivering care to patients.

Professor Sir John Burn, a clinical geneticist and director of NHS England, suggested that deploying it at scale can drive costs down and – potentially – could allow it to be deployed in the same way as other specialist tools such as magnetic resonance imaging (MRI) scanning.

Given the high price of personalised medicines, however, it was pointed out that the downstream costs of profiling could turn out to be enormously burdensome and will require a re-thinking by society in general – and NICE in particular – about how the NHS can pay for these therapies.

Interestingly, Burn also suggested private genome profiling companies such as 23andme – which recently launched in the UK – are unlikely to be successful in this country because the culture here is that patients trust their healthcare providers to “tell them what they need to know”.

Despite the outstanding issues that will have to be resolved, panellists and others participating in the debate clearly welcomed the initiative, and Freeman insisted it is a critical component in the government’s efforts to drive the UK’s position forward in health provision and life sciences R&D whilst supporting a thriving life sciences industry.

“This country is punching well above its weight in the life sciences sector, but unless we unlock the power of genetics and data in the 21st century we will slip behind,” he said.


UK’s world-leading genome project goes live

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