Dr Steven Hardy
I’ve always been fascinated by science, particularly how the human body functions and how this links to disease. After completing a degree and PhD in Molecular Biology and Biochemistry, I joined the NHS and trained as a Clinical Scientist in Genomics. This allowed me to apply my passion in practice, working in state-of-the-art laboratories that analyse patient DNA to diagnose and identify the most appropriate treatments for a wide range of rare diseases and cancers.
In 2018, I joined the National Disease Registration Service (NDRS) to develop a national programme of work in Genomics and Rare Disease. My focus is on harnessing data in innovative ways to increase our understanding of these conditions and improve patient outcomes. We work closely with NHS genomic laboratories across England to collect and enrich data on cancer, congenital anomalies, and rare diseases at a population level. This supports initiatives such as identifying eligible individuals for targeted screening, evaluating equity of care and developing variant databases to enhance genomic test interpretation.
I am really passionate about using data in novel ways to improve patient outcomes.
One of the achievements I am particularly proud of is our work on Lynch syndrome – an inherited condition that significantly increases cancer risk. In a world first achievement, we established a National Lynch Registry which supports the safe and robust identification and enrolment of Lynch patients into the national Bowel Cancer Screening Programme, facilitating earlier detection and prevention of cancer.
An important part of my role is engaging with the scientific, clinical, and patient communities. I regularly present at national and international conferences, collaborating with experts to advance best practices in genomic medicine, rare disease registration, and screening. We talk a lot about data, but it is vital to remember that behind every data point is a patient. It is a privilege to work in a field where we can make a real difference to people’s lives.
Steven is sharing his work to mark Rare Disease Day on 28 February 2025.
Learn more and get involved to help raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers.