Genomics 101: What is the Genomics England Research Environment?

In this series, ‘Genomics 101’, we go back to basics and explore some of the most important topics in genomics. In this blog, we explain the Genomics England Research Environment. 

First things first, what is the Research Environment?

In short, the Genomics England Research Environment is an online space that allows approved researchers to access de-identified data volunteered by participants.

These participants may have joined studies such as the 100,000 Genomes Project, or may have had their DNA sequenced through the NHS Genomic Medicine Service.

Data from these participants sits in the National Genomic Research Library, which researchers then access through the Research Environment.

So, the Research Environment and the National Genomic Research Library are different things?

Correct!

The National Genomic Research Library, sometimes shortened to the NGRL, is where all the data from participants is stored.

This includes information about their DNA, known as genomic data, as well as information about their health or medical history, known as clinical data.

The Research Environment is a secure platform where approved researchers can access the data that sits in this library.

Why do researchers want access?

Studying genomic and clinical data can help to reveal important information about our health.

Each person’s genome is the complete end-to-end sequence of DNA. It forms the instruction manual for our bodies, telling us how to grow, function, and survive.

Changes in this instruction manual can sometimes lead to problems with our health, for example rare conditions and cancer. 

By analysing genomic and clinical data, researchers can learn more about how changes in our DNA can affect our health, and how we can diagnose and treat people as best we can.

Do you have an example?

Sure! There are many examples in which research using data from the NGRL has led to real-life impact.

A significant one is the discovery of the gene that causes ReNU syndrome, a neurodevelopmental disorder that affects learning, movement, speech and behaviour.

By analysing data from over 100,000 participants, researchers identified a single gene that causes ReNU syndrome, leading to the diagnosis of over 200 people, with potential to diagnose thousands more.

In fact, the gene discovered, known as RNU4-2, is estimated to be one of the most common causes of neurodevelopmental disorders.

You can learn more about ReNU syndrome by listening to our previous podcast episode: What happens after a new rare genetic condition is discovered?

How do researchers get approved to access the Research Environment?

To get access to the Research Environment, researchers must be a member of a registered institution, such as an approved university, hospital, or pharmaceutical company.

Researchers must also submit a proposal explaining how they intend to use the data. This proposal is then checked against criteria set by the Access Review Committee to ensure it aligns with Genomics England’s ethical standards.

This committee is made up of participants, scientists and doctors, who set the criteria that all proposals must pass.

How is participants’ data kept safe?

Great question. Genomic and clinical data is extremely personal. Keeping this data safe is  a highly important part of the work we do at Genomics England.

To help ensure participants' privacy is protected, all data in the NGRL is fully de-identified. This means there are no names, no dates of birth, and no NHS numbers.

Additionally, there are strict limitations around taking data out of the Research Environment. If a scientist wishes to take data out as part of their research, the only way they can do this is through a process known as Airlock.

In this process, data is reviewed by an expert in the Airlock team who check whether a proposed data export could risk a participant being re-identified, and that the research aligns with Genomics England’s mission.

Only once this data has been approved will researchers be able to take it out.