I’ve always loved science, particularly how the human body works and how that links to disease. I did a degree and PhD in molecular biology before joining the NHS, where I trained to be a Clinical Scientist in Genomics.
Here, I was able to put my passion into practice, working in state of the art labs that test patient DNA samples for a wide variety of rare diseases and cancers.
In 2018 I joined the National Disease Registration Service team to build a programme of work in genomics.
We work closely with the NHS genomic labs in England to collect data to support and enrich registration of cancer, congenital anomalies and rare diseases on a population level, and produce outputs that improve patients outcomes including evaluating equity of access to genomic testing and production of variant databases that help us better interpret genomic test results.
I am really passionate about using data in novel ways to improve patient outcomes. I am particularly proud of our work on Lynch syndrome – a genetic condition that leads to an inherited predisposition to colorectal and other cancers.
By creating a national Lynch Registry for the first time, my team and I are supporting the enrolment of Lynch syndrome patients into the national bowel cancer screening programme. This will improve patient outcomes by preventing or detecting cancer at an earlier stage when it is easier to treat.
A big part of what I do is promoting our work with the scientific, clinical and patient communities by attending national and international conferences to build awareness and share best practice.
We talk a lot about data, but it is so important to remember that there is a patient behind the data we use. It is a real privilege.
