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Dr Kate Downes is the Clinical Scientist Lead for the East Genomic Laboratory Hub. Genomic medicine is a rapidly growing and dynamic field, and we are increasingly finding
more answers to help us provide more results to patients and their families.

The East Genomic Laboratory Hub (GLH) provides genetic testing for patients in the East Midland and East Anglia regions for both rare disease and cancer as part of the NHS Genomic Medicine Service. As the Rare Disease Clinical Scientist Lead, Kate works across the three genetic laboratories within the region at Cambridge, Leicester and Nottingham. All three laboratories receive rare disease test orders from doctors and healthcare professionals for patients who have a suspected genetic disorder. Genetic testing may be performed in house, with technologists generating genetic data, bioinformatics teams analysing results and Clinical Scientist interpreting the genetic variants identified and generating clinical results reports. As Kate explains, for some specialist genetic tests, the East GLH sends DNA to one of the other six GLHs in England to perform genetic testing and the East GLH also receives DNA for testing for specialist testing performed at the Cambridge Genomics Laboratory. In this way, the seven GLHs work in partnership to offer comprehensive genomic testing for all NHS patients.

This is a thrilling time to be working in the world of genomics, as explained by Kate.

“We are using new technologies and we are introducing new technologies all the time to perform testing in patient samples to identify the cause of their rare disease and clinical symptoms. We are translating new techniques, tests and analysis methods alongside using the latest understanding of new genes and disorders. We can now use big databases of genetic data from population and patient cohorts generated across the world. These resources help the Clinical Scientists interpret a new genetic variant we have identified in a patient. The questions we ask is: has this genetic variant been seen before in another patient with similar clinical symptoms? If the answer is yes then it is likely that this genetic variant is the cause of the patient’s disorder.”

“Together the introduction of new technologies and analysis methods with increased data sharing across the world help is provide more and more genetic diagnosis to patients.”
Dr Kate Downes

Clinical Scientist Lead

Having been an academic scientist for most of her career, Kate decided to move into the NHS. Supported by colleagues at the University of Cambridge and the NHS Cambridge Genomics laboratory, she was trained and gained experience that enabled her to register as a Clinical Scientist. She has worked in the Cambridge Genomics Laboratory as a Clinical Scientist for three years now and has welcomed the opportunity to take on her current role as the East GLH Clinical Scientist lead.

Kate loves her job, working with a huge team of people who are enthusiastic and incredibly knowledgeable in lots of different areas, located across the East region.


Dr Kate Downes
Genomics Lab CUH Hospital

My day to day role is really varied. I get to speak with members of the East GLH team within the Cambridge, Nottingham and Leicester laboratories, I also take part in national discussions to improve and standardise genomic services and improve patient pathways. And why do I love doing that? The reason I am in this role is to provide the best possible service for patients and their families right now, but also importantly to bring in new technologies, processes and knowledge into the laboratory to improve testing strategies in the future.

Come and join Kate and the East GLH team at RAREfest22, as they help people understand the genetics of rare disease. Do you fancy a career in health science?

We would really like to inspire young people to consider a career in healthcare science within the NHS. So at RAREfest22 we will have some fun activities alongside the opportunity to ask questions for our Clinical Scientists, Genetic Technologists and Bioinformaticians. We are planning to entertain and hopefully educate and inspire the next generation of healthcare