Hilary L Bekker

Jun 20, 2024 | jmg.bmj.com | Jade Howard |Hilary L Bekker |Christopher McDermott |Alisdair McNeill

Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Mar 8, 2024 | jmg.bmj.com | Jade Howard |Hilary L Bekker |Christopher McDermott |Alisdair McNeill

IntroductionWithin the English National Health Service (NHS), all people with motor neuron disease (pwMND) are eligible for genome sequencing (GS),1 with panel-based reporting. In 20%–30% of apparently sporadic MND, and 60%–70% of familial MND, a potentially causal monogenic variant can be identified.2 3 As genomic technology advances, more pwMND will be found to have a monogenic cause, leading to an increased demand for testing.