Biggest ever gene study unlocks ‘treasure trove’ of data that could lead scientists to cures for heart disease and cancer

• UK Biobank published whole genome sequencing data for half a million people
• Researchers said it gives ‘the most detailed picture of human health that exists’

Scientists have released the largest ever set of patients’ genetic data that could drive new tests, treatments and cures, in a ‘momentous landmark for medical research’. 

UK Biobank published whole genome sequencing data for half a million people.

Researchers said it provides ‘the most detailed picture of human health that exists’ and equips them with the ‘ultimate toolbox’ to make new discoveries about how diseases develop.

Whole genome sequencing analyses the entire human genome – a unique genetic code of three billion building blocks.

Among other things, the data could enable researchers to look at personalised risk of common disease, better understand genetic diseases and develop new and better drugs.

Professor Naomi Allen, chief scientist, UK Biobank, said the release of the data means that ‘within a few years we may well see new and more effective drugs for diseases such as heart disease, type 2 diabetes, rare genetic diseases (Huntington’s, motor neurone disease) and cancers’.

She added: ‘It may also lead to more targeted healthcare, whereby your genetic make-up can help determine whether or not you are more or less likely to benefit from a certain treatment, or to have side-effects.

‘These data will also allow for accurate identification of individuals who are at high genetic risk of disease, leading to interventions for targeted screening and early disease diagnosis or for targeted preventive measures to be introduced.’

According to Prof Allen: ‘These data, together with the wealth of data of lifestyle, environment, biomarkers and health outcomes, means that UK Biobank provides the most detailed picture of human health that exists, equipping researchers with the ultimate toolbox to make previously out-of-reach links and discoveries about disease development possible.’

WHAT IS A GENOME? 

Your genome is the instructions for making and maintaining you. It is written in a chemical code called DNA. All living things – plants, bacteria, viruses and animals – have a genome.

Your genome is all 3.2billion letters of your DNA. It contains around 20,000 genes.

Genes are the instructions for making the proteins our bodies are built of – from the keratin in hair and fingernails to the antibody proteins that fight infection.

Genes make up about one to five per cent of your genome. 

The rest of the DNA, between the genes, used to be called ‘junk’ DNA. It wasn’t thought to be important. 

But scientists found that ‘junk’ DNA regulates the genes and the genome.

Genomics looks at the complete genome – including ‘junk’ DNA – to understand how it can affect health. 

Learning more about genomes can help identify the cause of genetic diseases. 

Source: Genomics England

After five years, more than 350,000 hours of genome sequencing, and more than £200million of investment, UK Biobank has released the world’s largest single set of sequencing data.

Professor Sir Rory Collins, principal investigator at UK Biobank, said: ‘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.’

Set up 20 years ago, the charity UK Biobank recruited half a million people to create a comprehensive source of health data.

It is used by researchers across the world, from academic, commercial, government and charitable settings, for scientific discoveries that improve human health.

The addition of sequencing data to the database comes after a series of developments made using the vast UK Biobank biomedical database.

This includes finding genes associated with protection against obesity and type 2 diabetes, which has the potential to lead to the development of new drugs.

It also includes identifying people at very high genetic risk for diseases such as heart disease, breast cancer and prostate cancer, which may help with screening.

This project was funded by Wellcome, UKRI and four biopharmaceutical companies – Amgen, AstraZeneca, GSK and Johnson and Johnson.

In return for investment, UK Biobank gives nine months’ exclusive data access to industry members of the consortium.

This way, commercial companies invest heavily to enhance a health dataset that is then available to approved research across the world.

The new data – and the rest of UK Biobank’s de-identified data – is now globally accessible for approved researchers on the UK Biobank Research Analysis Platform.