Cures for disease may be step closer thanks to release of largest ever whole genome sequencing data

Category: (Self-Study) Health

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The UK Biobank has been tracking the medical outcomes of people since 2006. Inside this giant freezing unit, a robot can access samples provided by half a million people in the UK. The samples include blood and saliva while computers have whole-body scans and medical updates from participants going back almost two decades.

The Biobank says tens of thousands of scientists have already benefited from the data stored here, adding to knowledge that can be used to fight disease.

This too will be released to researchers aiming to find effective treatments for so far, incurable diseases like dementia, Parkinson’s, and soft tissue cancers.

According to UK Biobank, the result comes after a £200 million (GBP) investment.

Naomi Allen, Professor of Epidemiology at the University of Oxford and the Chief Scientist at the UK Biobank says the information being made available to medical professionals is unprecedented.

“We’re releasing the most ambitious project ever, which is the single largest tranche of whole genome sequencing data on half a million people. […] So whole genome sequencing data consists of measuring all of the genetic variation across your entire genome, which has not been done before at this scale,” says Allen.

Importantly, the Biobank will be able to offer new insights into how particular diseases can be more prevalent in certain populations, such as Black, Asian, and Hispanic people as well as White people.

But the aim of UK Biobank is not just to treat disease and tackle it early but to prevent it too which would be a hugely progressive step for public health.

Having information from the whole genome could help anticipate which drugs would work better on a person and which are likely to have severe side effects.

According to UK Biobank, the genome bank could also accelerate understanding of illnesses that aren’t properly understood such as Parkinson’s, Alzheimer’s, and autoimmune diseases. Allen believes the dataset can reveal how our genetics affect proteins, metabolites, and other physiological factors that could contribute to these illnesses.

According to Allen, the dataset could also accelerate the application of new medical technologies such as gene editing.

This article was provided by The Associated Press.

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[Robotic freezer where 11 million human samples are stored at the UK Biobank]

[Samples being processed]

[Laboratory worker stacking samples at UK Biobank]

Naomi Allen (interview): “We’re releasing the most ambitious project ever, which is the single largest tranche of whole genome sequencing data on half a million people. So this is all of the participants in in UK Biobank. So whole genome sequencing data consists of measuring all of the genetic variation across your entire genome, which has not been done before at this scale.”

[People walking through shopping area]

[Sweet shop in shape of bus]

[Person buying sweets]

Naomi Allen (interview): “Because of the sheer size of UK Biobank, although we only have about 5% of the half million participants who are Black, or ethnic Asian minority, it still means that we have 10,000 individuals with whole genome sequencing data from Asian ancestry and from African ancestry, which at the moment is still the world’s largest database on whole genome sequencing data on those individuals. So although, you know, Black and ethnic minorities, are a minority for UK Biobank, it still represents at the moment the largest dataset to understand the genetic differences between different ethnic and racial groups, which will be incredibly important to look at how the genetic determinants of disease vary across different populations.”

[Researchers working in the gene sequencing laboratory at the Wellcome Sanger Institute]

Naomi Allen (interview): “Genetic data on his own is frankly not very useful. When you combine it with vast amounts of information on lifestyle factors, environmental factors and health outcomes over the last 15 to 20 years, then it becomes an absolute treasure trove for researchers around the world have got the data at their fingertips to make scientific discoveries and use the data in imaginative ways that, frankly, you or I would not be able to think of sitting here today.”

[Woman receiving mammogram]

[Cancer medications]

Naomi Allen (interview): “Now that we have information on the variation across the whole genome, we can perhaps identify women who are high genetic risk of developing breast cancer based on all of the genetic information that we have and then those individuals who are high genetic risk we can target them for more early screening or more intensive mammographic screening in order to diagnose the disease earlier and therefore treat the disease earlier.”

[Researcher working in the gene sequencing laboratory at the Wellcome Sanger Institute]

Naomi Allen (interview): “So once we have a much better understanding about how genetic mutations and other types of variation influence disease risk then will absolutely be able to target using gene editing and splicing technologies, target those areas of the defective genome in order to implement treatments and cures. So these data will absolutely accelerate those types of treatments where you’re actually trying to change the genetic underlying cause of the disease and therefore treat the disease and stop it in its tracks.”

[Researchers working in the gene sequencing laboratory at the Wellcome Sanger Institute]

This script was provided by The Associated Press.