PhD; MSc Genetic Counselling
Principal Investigator in RDM; Senior researcher; Genetic counsellor
Understanding the impacts of developments in genetics/genomics on patients, families and society.
Genetics and genomics have advanced rapidly in recent years. My research focuses on understanding the impacts of these developments on patients, their families and society.
A major research focus is on 'secondary' or 'additional' findings in people who have undergone genome sequencing. At present, genome sequencing in the NHS is performed to look for genetic causes of existing disease, when there is evidence that the disease may have a genetic cause. However it is technically possible to look for other variants in the genome which may increase risk of developing other diseases. The diseases in question often don't have symptoms for a long time, so people may not know they are at risk.
Looking for these variants in individual genomes might help to detect disease, through surveillance or medical management. We know that the majority of patients and the public would like this information. But at present, when genomic variants are found in this way, we don't understand what the risk is, or how best to manage it.
The 100,000 Genomics Project recruited people with a rare disease, and some healthy relatives, through the NHS. Adult participants were offered return of additional findings in a small number of genes. We have funding from the Wellcome ISSF to do a study of participants receiving additional findings, in the Oxford, West Midlands and Southampton areas.
Policy work: genomic health data generation
Genomic health data is now generated in several contexts: clinical/research hybrid models (such as the 100,000 Genomes Project), research initiatives and the direct-to consumer market as well as the new NHS Genomic Medicine Service. We have worked with policy makers - the Parliamentary Office of Science and Technology and Health Education England Genomics Education Programme - to understand how these models intersect, and the clinical, ethical, legal, policy and social issues arising from this intersection. This work was funded by grants from University of Oxford policy engagement schemes, and described in this blog: https://www.ox.ac.uk/news/science-blog/how-useful-personal-genetic-health-information.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA. et al, (2023), Am J Hum Genet, 110, 1482 - 1495
Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.
Nolan JJ. and Ormondroyd E., (2023), Clin Genet
Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services
Nolan J. and ORMONDROYD E., (2023), Clinical Genetics: an international journal of genetics and molecular medicine
A practical checklist for return of results from genomic research in the European context
Vears DF. et al, (2023), European Journal of Human Genetics