Date: Tuesday 19th November 2024
Time: 12.30 – 13.30
Title: MND Predictive Genetics
Speaker: Dr Alisdair McNeill & Dr Jade Howard, Sheffield Children’s Hospital NHS Foundation Trust
Abstract:
“Clinical whole genome sequencing for ALS families – challenges with implementation
Abstract: Amyotrophic Lateral Sclerosis (ALS) is a monogenic disease in a minority of cases, with autosomal dominant inheritance. All people with ALS can access genome sequencing in the English NHS. Consequently, requests for genetic counselling and predictive (unaffected) testing of family members are similarly expected to rise, alongside pre-symptomatic clinical trials. Despite this, there is no evidence-based guideline for predictive genetic testing in ALS. This talk provides an overview of the genomic basis of ALS, and lays out the complexities of ALS predictive testing, including the genetic landscape characterised by incomplete penetrance, clinical and genetic heterogeneity, and reported cases of oligogenic inheritance. We then present our research findings on implementation of genome sequencing for ALS in mainstream neurology clinics. We will describe the service level barriers to offering genome sequencing in mainstream neurology and clinician training needs. The views and preferences of families on how genome sequencing should be offered to people with ALS and predictive testing will also be discussed. Lastly, we will present our development of a decision aid to support ALS genome sequencing in mainstream neurology and those considering predictive testing
Location: St Mary’s Hospital, Manchester M13 9NQ
Cost: Free
Registration: If you would like to attend this lunchtime seminar session, please contact: mrcc@mft.nhs.uk