Genseize: Equity of access to genetic testing in patients with epilepsy

Introduction to project

Primary and secondary care is working collaboratively to offer the most up-to-date whole genome sequencing to all patients with primary epilepsy.

What is the condition?  

Epilepsy is a common neurological disorder affecting 0.5-1% of the population. A large proportion of people who have  epilepsy have a genetic origin for the condition.

What are we doing? 

The project aims to offer:

  • A greater understanding for the individual of the cause of their primary epilepsy.
  • A personalised approach to the management of epilepsy.
  • To deliver more accurate genetic counselling regarding reproductive risks and testing options in pregnancy.
  • To study the natural history of genetic forms of epilepsy and enable better medical advice and management in the future.

We have been working with two large primary care networks (PCNs) in the Central & South region to pilot this project – one based in the Midlands and one in Oxford. A nurse and GP within each PCN were trained with foundation knowledge of genomics to deliver this project.

We are currently identifying the patient cohort at both PCNs of patients with epilepsy that is potentially genetic in origin, and inviting all identified patients to the project.

The plan for this project is for the trained nurse/GP to hold conversations with interested patients including record of discussion and consent to genetic testing, and taking a blood sample. Conversations will also be held with the parents of the patient where possible, as their blood samples will also assist with the patient’s genetic test. 

What training is available?

A conversation about whole genome sequencing (13 mins)

Genomic Scenarios in Primary Care – Healthcare Course – FutureLearn

Royal College of General Practitioners – Webinars on Family History of Cancer and Rare Disease in Primary Care: Genomics Webinars ( RCGP Genomics Webinar Part 2: Rare Disease

Where can I find out more?

Podcast – Here’s how we began – with Torie Robinson — Epilepsy Sparks

Who can I contact?