G001 2023 UK national audit of predictive testing for Huntington’s disease

Le résumé fourni par la source

Background The UK Neuro-Predictive Testing Consortium carried out a 6 months prospective audit (clinicians) and service evaluation (patients) of Predictive Testing in Huntington’s Disease. Methods Questionnaires were adapted from a European Huntington’s Disease Network service evaluation. One questionnaire was given to patients following each HD predictive testing appointment. One questionnaire was completed following each HD predictive testing appointment by the clinician. Data was collected by from 1st February to 31st August 2023. Results There were 273 responses from clinicians from 18/23 UK Clinical Genetics Services 62 patient responses nationally. 72% of patients had their 1st appointment within 6 months of referral. 57% of patients had 3 appointments prior to having their predictive test activated. 92% of patients received their results within 6 weeks once testing was activated. The average predictive testing process for those that received results was between 9-12 months from referral. 79% of patients rated their satisfaction with the predictive testing process as 5/5. For those that received a result ALL said that the predictive testing process had helped them to prepare for their results. Discussion This was the first prospective national audit of Huntington’s Disease Predictive testing practise in UK and provides the first mapping exercise of the structure of predictive testing counselling appointments and the topics covered in each appointment as well as the method of delivery of appointments. It provides evidence of the flexibility required in Huntington’s Disease Predictive Testing and will aid in service planning.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.