Adolescents’ views on new-born screening
Research type
Research Study
Full title
Exploring adolescents’ perspectives on new-born screening based on their experiences of diagnosis in childhood.
IRAS ID
331419
Contact name
Roberta Rizzo
Contact email
Sponsor organisation
University Hospital Southampton NHS Foundation Trust
Duration of Study in the UK
0 years, 8 months, 19 days
Research summary
Genomics England together with NHS England is set to start a pilot research project to explore the implications and potential challenges to offer new-born whole-genome sequencing. Consultations are being undertaken to investigate public’s, parents’ and healthcare professionals’ perspectives regarding the long-term impact of the project. One of the main ethical dilemmas that arose during the discussions is the management of the initial and ongoing consent for storage and re-analysis of the sequencing data over-time. While the initial consent for WGS would be undertaken by parents, re-consent for storage and use of the sequencing data later in life could be undertaken by young people at 16 years of age. The issue of consent, and the effects that the identification of a genetic condition has had on the child and their family, have been explored in families and individuals diagnosed with genetic conditions through the current new-borns screening programmes. Most studies have analysed the long-term health outcomes and the psychological impact that a genetic diagnosis through new-born screening has had on the parents and their relationship with the child.To our knowledge, no study has explored adolescents’ perspectives on new-born screening based on their experiences of diagnosis. Multiple metabolic genetic conditions are already being screened for in the current newborn screening programme and therefore it is anticipated that more metabolic conditions will be included in the new-born WGS pilot study. Through semi-structured interviews with 10 adolescents, this project aims to explore adolescents’ views on newborn screening based on their experiences of diagnosis during childhood. The results of this project may help to inform the current development of the Newborn Genomes Programme.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
23/SW/0096
Date of REC Opinion
25 Aug 2023
REC opinion
Favourable Opinion