Vice Chair, Participant Panel at Genomics England, Founder & Director, Hereditary Brain Aneurysm Support
Dr Richard Scott will chair a panel discussion with Sasha Henriques, Principal Genetic Counsellor at Guys and St Thomas NHS Foundation Trust, Dr Sarah Bowdin, Medical Director of East Midlands and East of England Genomics Laboratory Hub and Rebecca Middelton, Vice Chair of the Participant Panel at Genomics England. Together they’ll reflect back on the genomic revolution of the last 5 years and the difference it has made for rare disease patients and lay out their plans and vision for the coming 5 years.
Bio: As a rare disease patient, Rebecca joined the Genomics England’s 100,000 Genomes project in 2015, and now sits as Vice Chair of the Participant Panel. The panel is tasked with ensuring the interests of participants are always at the forefront of the organisation’s work.
Having lost family to brain aneurysms, and having undergone treatment for an aneurysm herself, Rebecca founded Hereditary Brain Aneurysm Support in 2020. The growing patient centred organisation supports and inform patients and families living with familial brain aneurysm syndrome and raises awareness of the condition as a rare disease, representing the patient experience and improving and saving lives.
Find out more about Hereditary Brain Aneurysm Support by visiting their website.
The strength and power of the patient voice in organisations, charities and through the research environment. This is leading to meaningful change and having a tangible positive impact.
Q: How has your work impacted rare disease progress over the last 5 years?
The Genomics England Participant Panel works collaboratively with Genomics England and other healthcare bodies to improve links between rare disease patients/participants, academic and commercial health researchers and clinicians. We hold Genomics England to account for what they do with all the patient and research participant data they hold, seeking to ensure that data is being held safely and used for good for rare disease and rare cancer patients, and for all participants and wider society. We continue to pursue results for the 100,000 Genomes Project participants and their families in perpetuity, and make sure that this rare disease and cancer cohort continues to benefit from advances in technology.
Q: What next? What do you want to see happen or change in the next 5 years that will have the most impact on diagnostics, care or treatment for those affected by rare conditions?
I would like to see further partnership and meaningful engagement with rare disease patients and their families. Rare disease impacts 1 in 17 of us, but we are more than a number. We have skills and experience that can help clinicians and researchers to get better at what they do. Learning and listening from groups of patients and families or individuals may hold the key for new discoveries or make a patient journey more bearable in the meantime. We can not move forward into a world of personalised medicine without listening to the person.