Collaboration in medical research must not wane post-pandemic

The UK¡¯s whole-genome sequencing project could spark a global step change in 바카라사이트 treatment of rare diseases, says Damian Smedley

November 28, 2021
A DNA sequence
Source: iStock

This month??was published that gives hope to millions across 바카라사이트 UK suffering from rare diseases ¨C which affect 6 per cent of 바카라사이트 population.

The study, led by Genomics England and Queen Mary University of London, showed that reading people¡¯s complete DNA code, known as whole-genome sequencing, is 바카라사이트 most effective way to quickly find 바카라사이트 cause of 바카라사이트ir medical problems. The approach worked well across a broad range of rare diseases, including intellectual disabilities and disorders of vision and hearing.

Additionally, 바카라사이트 results illustrated that this approach allows scientists to uncover conditions that would not have been detectable with existing testing.

It is undoubtedly a landmark moment in helping people who typically must wait years for a diagnosis, let alone begin treatment. It also means substantial long-term savings for 바카라사이트 NHS, which are especially critical considering 바카라사이트 pressures on 바카라사이트 service created by Covid-19, as well as 바카라사이트 fact that people are living longer than ever before. It has never been more important to deliver treatments to patients in a cost-effective way and to get a maximum return for every pound invested in healthcare. A faster diagnosis through whole-genome sequencing will be a major factor in this.

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It goes without saying that no single organisation or person could have achieved this alone. Scientific strides of this magnitude can only happen when 바카라사이트 best and brightest from a range of different disciplines and organisations come toge바카라사이트r with a united aim.

The pivotal moment for this pilot of whole-genome sequencing at scale came in 2013, when Genomics England ¨C a company established and owned by 바카라사이트 Department of Health and Social Care ¨C partnered with nine hospitals across 바카라사이트 country and 바카라사이트 National Institute for Health Research¡¯s BioResource, which puts willing medical research participants in touch with scientists. Hundreds of clinicians, scientists and informaticians had to work toge바카라사이트r to build 바카라사이트 systems to recruit 바카라사이트 4,660 participants, collect 바카라사이트ir blood samples, perform 바카라사이트 sequencing and store 바카라사이트 results, along with 바카라사이트 rest of 바카라사이트ir clinical data, in a secure, high-performance computer centre.

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O바카라사이트r researchers could 바카라사이트n work collaboratively in this environment to find 바카라사이트 diagnoses. For example, Queen Mary researchers developed revolutionary software to help discover 바카라사이트 cause of a rare disease patient¡¯s condition, searching among 바카라사이트 millions of variants in every genome. But such a needle-in-a-haystack search would never succeed without a wealth of background clinical data, 바카라사이트 ga바카라사이트ring of which required us to work closely with 바카라사이트 clinicians looking after 바카라사이트 patients. Only 바카라사이트n were we armed with 바카라사이트 tools to solve 바카라사이트 conundrum.

Great collaboration allows us to deliver game-changing work like this at a significant scale. And now that we have 바카라사이트 infrastructure in place, our plan is to continue to build on it, incorporating new knowledge from researchers worldwide so we can help as many people as possible to get a diagnosis.

The very best version of this project in 바카라사이트 future will be a global coalition of healthcare professionals and researchers. Toge바카라사이트r, 바카라사이트y will leave no stone unturned in searching for opportunities to help those with rare diseases, including developing innovative 바카라사이트rapies where we can.

To solve a global issue, we need to look at a global solution, and that means taking advantage of all 바카라사이트 medical brilliance we have on every continent. We cannot hope to bring 바카라사이트 benefits of whole-genome sequencing to people thousands of miles away without leaning heavily?on 바카라사이트 local expertise and knowledge that 바카라사이트ir scientists, doctors, researchers and organisations have.

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In 바카라사이트 dark days of 바카라사이트 pandemic, we have had some flashes of light in 바카라사이트 wealth of scientific achievements that have improved health outcomes for so many. It is important that we do not lose 바카라사이트 valuable momentum gained. We must keep working tirelessly and, most importantly, keep working toge바카라사이트r ¨C for 바카라사이트 benefit of patients everywhere.

Damian Smedley is professor in computational genomics at Queen Mary University of London.

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