Expanding the notion of "benefit": comparing public, parent, and professional attitudes towards whole genome sequencing in newborns

• Published in: New genetics and society 2022-04, Vol.41 (2), p.96-115
• Main Authors: Clark, Corinna C.A., Boardman, Felicity K.
• Format: Article
• Language: English
• Subjects: Autonomy; Genetics; genomics; Governance; Health services; healthcare professionals; Medical personnel; Medicine; newborn screening; Parents & parenting; public and parent views; Public health; Social groups; Tests
• ISSN: 1463-6778; 1469-9915
• DOI: 10.1080/14636778.2022.2091533

Whole genome sequencing (WGS) is being considered as a tool to deliver newborn screening (NBS) internationally. Its use would dramatically increase the number of genetic variants identified, presenting a host of ethical, social, and practical considerations. A scoping review was conducted to examine the acceptability of WGS-NBS among parents, the public, and health professionals. Parent/public groups were enthusiastic about WGS-NBS, holding panoramic views of current/future benefits, incorporating family and wider society. While actionable early-onset findings were prioritized, non-actionable and uncertain results were still viewed as empowering. Conversely, professionals preferred selective results disclosure, prioritized by clinical need. They emphasized the need for meaningful consent and protection of the child's autonomy. All groups outlined the importance of properly considered implementation (e.g. resources, governance) to minimize harms and prevent a reduction in NBS participation. As genomic medicine integrates into healthcare, divergent conceptualizations of "harms" and "benefits" across social groups must be considered.