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Clinical Interpretation Partnership topics announced

 |  Cancer  |  Rare disease  |  Research  |  Press release

Genomics England has today (19th June) confirmed which researchers will work on data from the 100,000 Genomes Project, and what topics and disease areas they will be working on.

The researchers, from both academia and the NHS, have come together to form the Genomics England Clinical Interpretation Partnership (GeCIP). Their first meeting takes place today in London.

This is an important milestone. The results from the work of these researchers will enable us to better interpret the genomic data, leading directly to better clinical understanding and patient care. The way the researchers have been brought together will accelerate findings being used to benefit patients. More information and the full list of domains are on our GeCIP pages.

Our vision is to create a powerful research and training programme alongside the 100,000 Genomes Project. The Genomics England Clinical Interpretation Partnership (GeCIP) provides the environment for that activity. We want to ensure research findings go straight back to clinicians and patients so they can benefit and the GeCIP has been established to accelerate that. This work is at the forefront of technology and medicine. It’s a huge opportunity for everyone involved. Most importantly for patients – we want to deliver new diagnosis and new treatments for people as quickly as possible.

Professor Mark Caulfield

Chief Scientist at Genomics England

There are 31 topics (or domains) of research and over 2,000 researchers from academia and the NHS, plus international collaborators. Most domains cover a single disease or group of diseases. However some are wider. These include epigenomics, health economics and technology.

Dr James Brenton, lead of the ovarian cancer domain said: “Cancer is a genomic disease – changes to DNA in cells leads them to become cancerous. Whole genome sequencing will be especially important for patients with high grade serous ovarian cancer as their cancer cells have very complex genetic damage which is difficult to measure in the clinic, preventing personalised treatment. We will be supporting Genomics England to interpret the data in the project to directly improve patient care. We will also be undertaking research which we hope will lead to new clinical trials for treatments that are based on someone’s individual genetic make-up.”

Prof Bill Newman, lead of the validation and feedback domain said: “We will be working with bioinformaticians and molecular geneticists both within and outside of Genomics England. We will work across both cancer and rare diseases. The project is very likely to identify changes in the genome that can cause disease, and these changes won’t have been seen before. We will be working to verify all new findings, confirming them in the laboratory and with other further tests. This will improve our understanding of genomics and how it can be used in healthcare.”

Professor John McGrath, lead of the rare skin diseases domain said: “As well as working with Genomics England on interpreting data, we will be undertaking research into rare skin diseases. We aim to identify changes in the genome that cause disease. We also want to understand how these changes affect different symptoms. We hope this will enable us to recommend specific treatments for people, based on their genomic sequence.”

Within each domain, researchers will be focussing on improving the clinical application and interpretation of the data. In addition, research will be undertaken to improve our understanding of genomic medicine and its application to healthcare, leading the way to developing new diagnostics and treatments.

Find out more about GeCIP.

Media contact

Linda Todd

Communications & PR

[email protected]

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