Year: 2024
Type: conference-abstract
Abstract: 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.
Authors: Nayana Lahiri, Lauren Limb, William Beckett, Alyson Bradbury, Rebecca Collier, Emily Craft, Donna Duffin, Claire Dolling, Andrew Douglas, Eshika Haque, Jenny Higgs, Vani Jain, Gabriella Jones, Suresh Komati, Nicol Lambord, Rhona Macleod, Lisa McGrath, Harriet McMillan, Alisdair McNeill, Sharon McDonnell, Mary O’Driscoll, Ruth Robertson, Cheryl Stopford, Shereen Tadros, Charlotte Tomlinson, Penny Van Besouw, Felicity Wadrup
Institutions: St George's Hospital, St George's, University of London, London North West Healthcare NHS Trust, Chapel Allerton Hospital, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Nottingham City Hospital, University Hospitals of Leicester NHS Trust, University Hospital of Wales, Birmingham Women's Hospital, Churchill Hospital, Guy's Hospital, Liverpool Women's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Royal Devon University Healthcare NHS Foundation Trust, St Mary's Hospital, Great Ormond Street Hospital, Addenbrooke's Hospital
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4402374620