Professional perspectives towards implementing artificial intelligence in next generation sequencing–based newborn screening: A Q methodology study

Abstract

• Newborn screening can include genomic sequencing with assistance of AI. • Q method was used to explore perspectives on AI in genetic-based newborn screening. • Professionals give importance to retaining control over the task for which AI is used. • Maintaining parental acceptance and a high screening uptake are crucial. The use of next generation sequencing (NGS) to expand current newborn screening (NBS) is being explored. NGS would enable early detection of more early onset diseases. However, to interpret a large amount of data within a short turn-around time, it is necessary to use artificial intelligence (AI). Use of AI in NGS-based NBS raises ethical and societal issues that require investigation of how healthcare professionals view the use of AI in this context and which requirements need to be met to realize responsible development and deployment of AI in NGS-based NBS. To explore professionals’ perspectives on the requirements that are important for responsible development and deployment of AI in NGS-based NBS. Q methodology was used to examine the perspectives of professionals, involving two steps: 1) an online focus group discussion to provide input for the development of 40 statements regarding requirements for responsible use of AI in NGS-based NBS and 2) an online sorting by the participants ( N = 30) of the list of statements, according to their importance. The Q methodology approach identified two participant perspectives. The first emphasized the importance for professionals that they retain control over the task for which the AI is used. The second prioritized the importance of parental acceptance and of high uptake of the screening offer. The findings indicate an overall optimistic attitude and suggest that for responsible development and implementation of AI in an NGS-based NBS, it is important to consider requirements covering ethical, legal and societal aspects.

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