| Autor: |
Holder P; Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London, London SE5 9PJ, UK., Clark CC; Warwick Medical School, Warwick University, Coventry CV4 7AL, UK., Moody L; Centre for Arts, Memory and Communities, Coventry University, Coventry CV1 5FB, UK., Boardman FK; Warwick Medical School, Warwick University, Coventry CV4 7AL, UK., Cowlard J; Paediatric Respiratory Medicine, Royal London Children's Hospital, London E1 1FR, UK., Allen L; Cystic Fibrosis Trust, London EC3N 1RE, UK., Walter C; Cystic Fibrosis Trust, London EC3N 1RE, UK., Bonham JR; Pharmacy, Diagnostics and Genetics, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK., Chudleigh J; Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London, London SE5 9PJ, UK. |
| Abstrakt: |
The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF ( n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive-inconclusive diagnosis (CFSPID), an uncertain outcome ( n = 3), and adults with CF ( n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening. |
