- Inherited Heart Disease Service Research Group
MA; MSc; DPhil
Specialist Genetic Counsellor in Inherited Cardiac Conditions
I have been a specialist Genetic Counsellor in the Inherited Cardiac Conditions team in Oxford since 2011, and in that time our service and the number of patients we care for have grown significantly. We look after patients with inherited heart muscle conditions (Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Arrhythmogenic Cardiomyopathy) and inherited arrhythmia conditions (Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia). Our multidisciplinary team aim to address both the cardiac and genetic needs of our patients in a coordinated way, and to help inform and screen relatives where necessary.
My career began as a scientist: following a degree in Natural Sciences (Genetics), I worked as a research assistant and then DPhil student in the Bhattacharya lab. I was lucky to be sponsored by the British Heart Foundation to carry out my doctoral research which focussed on the genetic network surrounding a transcriptional coactivator called CITED2. Disruption of this gene affects the development of the heart and can contribute to causing congenital heart disease in our mouse model.
After completing my DPhil, I won a place on the MSc in Genetic Counselling at Cardiff University. I had realised how much genetic conditions can affect patients and their families, so I decided to train as a genetic counsellor in order to help patients and relatives to access genetic testing. Now that I am in practice, I find it very rewarding to see how genetic tests can help guide the clinical screening we need to offer families affected by inherited heart conditions, and to help patients understand why and how a condition runs in their family. We are now moving towards looking at a patient's whole genome when we carry out genetic testing, which will enable us to learn about more genes which have not yet been linked to inherited heart conditions. However it will also generate results which are more complex and challenging to interpret. Many of our patients have been eligible to take part in the 100,000 Genomes Project and we are continuing to recruit suitable families.
I would like to engage in more patient-centred research in the future, focussing on the patient experience in the Inherited Cardiac Conditions clinic with respect to how they view genetic testing, and what value it provides to them. I am also passionate about improving advice and assistance for families who have been bereaved suddenly due to a sudden cardiac death. I am a member of the Association for Inherited Cardiac Conditions and the Association of Genetic Nurses and Counsellors. I am also a UK Registered Genetic Counsellor, and Sign-Off Mentor for the Registration process.