Contact information
Collaborators
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Elizabeth Ormondroyd
Principal Investigator in RDM; Senior researcher; Genetic counsellor
Research groups
Websites
Joshua Nolan
MSc, BSc
Postdoctoral Research Assistant
Research Genetic Counsellor
I am a research genetic counsellor with a passion for the power of genomics to improve healthcare. I have completed a BSc in Genetics, an MSc in Genomic Medicine, and most recently, I completed the NHS Scientist Training Programme in Genomic Counselling. I am a registered Genetic Counsellor with the Health and Care Professions Council.
Our current research builds on the 100,000 genomes project. This project used whole-genome sequencing to try and identify the cause for suspected genetic, but previously undiagnosed, health conditions. As part of the project, patients could consent to receive genetic risk information from a small list of genes that are unrelated to their current condition, but that contribute to their risk of cancers and heart disease. We call these genetic results "additional findings".
It is the first time that the NHS has offered to return non-clinically indicated additional findings to patients. Our research aims to understand the healthcare, behavioural, and psychosocial impacts of additional findings for healthcare services, and more importantly, the patients and their families. You can find more information about our study, the SAFE study, here.
As the NHS increasingly uses genomic technologies in mainstream medicine, our research offers insights into using genetic information to benefit healthcare.