World's largest genetic study could spark healthcare revolution, opening doors to new era of cures

One of the world's largest health databases has made its data on the genes of some 500,000 participants available to scientists for analysis, which in combination with the study of its contributors' long-term health information, could revolutionize biomedical science as we know it, geneticists say.  

The British health study known as the UK Biobank – a "treasure trove" of long-term health data set up in 2006 to investigate how our genes and environments affect the development of disease – is considered the world's most important health database and has the biggest whole genome dataset in the world, made up of half a million people.

This has now been opened up to approved researchers, a decision which the UK Biobank says will "transform the way in which scientists study the genetic determinants of a wide range of health outcomes," providing "the most detailed picture of health and disease we've ever had." 

"This is a veritable treasure trove for approved scientists undertaking health research, and I expect it to have transformative results for diagnoses, treatments and cures around the globe," said Professor Sir Rory Collins, the principal investigator for the UK Biobank.

Why is the UK Biobank so important?

The key to why the UK Biobank's data is so important is that since it was set up, it has recorded hundreds of thousands of participants' long-term health information, collecting more than 10,000 variables on each volunteer. Basics like height, weight and waist measurements are taken, but so are blood, urine and saliva samples; blood pressure, heart rate, bone density, and lung conditions, and many more factors are also measured. 

But beyond physical facts, volunteers also share details on their lives and lifestyles. For example, where they live, their education, their job demands, their mental health, their alcohol and junk food consumption, even the amount of time they spend sunbathing, are all taken into account. This makes it possible to cross-reference such information with their genetics to see who might be more at risk of certain diseases and how to fight them. 

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One example is that 100,000 Biobank volunteers wore smartwatches for a week, which were used to check in on their physical data. Using the data, researchers found that they could predict who is likely to develop Parkinson's disease up to seven years before clinical diagnosis.  

Other such studies spearheaded by the UK Biobank are also driving research into heart disease, dementia, arthritis and diabetes. But why are genome sequences in particular so key to helping fight disease? 

Why is access to whole genome sequences so important?

A genome is all of the genetic material in an organism. It's largely made up of DNA sequences, which are determined by the order of the four 'letters' that make up DNA (A,T,G and C).

Whole genome sequencing is then analyzing the genetic sequence for a person's entire genetic code: the unique makeup of three billion building blocks that constitute what each individual is made of. Previously, the Biobank had released such data on 200,000 people, but now it has more than doubled that, releasing the genetic makeup of a massive 500,000 people. 

The Biobank says that whole genome sequencing data on this scale will allow researchers to explore "rare and hidden genes" involved in health and disease, find patterns in data that might be missed in a smaller dataset, and make "previously impossible discoveries" about how diseases develop, and how we can diagnose, prevent and treat them.

Combined with the other data in Biobank, researchers will now have an "unprecedented insight" into how our genes, behaviors and environments play a role in our health. "The sheer amount of genetic data is exceptional – it is twice as much as anywhere else," said Collins. "But UK Biobank's data is so illuminating because we've been able to follow the health of our brilliant volunteers for around 15 years."

So far, over 30,000 researchers from more than 90 countries have registered to use the Biobank, with over 9,000 peer-reviewed papers published using the data. And because of the law of numbers, it has already allowed for more targeted drug discovery and development, particularly in tandem with the use of artificial intelligence. In fact, evidence taken from the database has made drugs twice as likely to be approved for clinical use. 

"From the sequencing of the genomes themselves through to innovative and secure data storage, the release of this rich dataset marks a significant and impressive moment in scientific research," said Cheryl Moore, chief research programmes officer at the Wellcome Trust. "It's truly field-opening for understanding the interactions between our genetics, environment and health… in turn offering huge potential to unlock new discoveries and enhance our understanding of health to improve lives around the world."

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