Evaluation of the adult neurogenetics clinic in Wessex

<h3></h3> Genomic testing is increasingly used as a first-line investigation, though choosing the appropriate panel and variant interpretation can be challenging. The Wessex adult neurogenetics clinic runs once per month with a Clinical Geneticist and Neurologist. We performed service evaluation to determine the rate of neurogenetic diagnosis. Between March 2021 and September 2023, 73 cases were reviewed (61 new, 12 follow-up). 47% referrals were from a Neurologist, 25% from Clinical Genetics, 11% from Paediatrics, 8% from Primary Care. 69% of new referrals had undergone prior genomic testing (31% variants likely pathogenic/pathogenic, 45% variant of uncertain significance, 31% negative). As a whole 48% (35/73) of referrals received a genetic diagnosis. When those with genomic tests pending or those with a non-genetic condition are excluded the success rate is 73%. The 35-patients with a positive genetic diagnosis included those with myopathy (31%), neuropathy (20%), spinocerebellar ataxia (11%), mitochondrial disorder (9%), syndromic disorder (9%), cavernoma (9%), movement disorder (6%), leukodystrophy (3%) and hereditary spastic paraplegia (3%). The adult neurogenetics clinic provides an effective service for patients in Wessex. Neurogenetics services are likely to require expansion as our patient group continue to demand early diagnosis for access to clinical trials and emerging treatments.