A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study

Area of Science:

• Genomics
• Public Health
• Bioethics

Background:

• Genomic sequencing is being considered for integration into existing newborn screening (NBS) programs.
• This raises discussions about its potential benefits and challenges within current healthcare frameworks.

Purpose of the Study:

• To explore multi-stakeholder perspectives on incorporating genomic sequencing into newborn screening (NBS).
• To identify opportunities and challenges associated with this integration in the Netherlands.

Main Methods:

• Qualitative study utilizing semi-structured interviews.
• 26 professionals involved in NBS or clinical genome sequencing were interviewed.

Main Results:

• Opportunities include a single test for multiple genetic conditions, reduced diagnostic odyssey, expanded NBS scope, and improved efficiency.
• Challenges involve genetic variant interpretation, parental anxiety, data privacy, information provision difficulties, and high costs.
• Key tensions identified in screening strategy, performance, and stakeholder roles and responsibilities.

Conclusions:

• Genomic sequencing is acknowledged to have a future role in NBS, though not currently as a first-tier test.
• Implementation must not compromise current NBS participation rates.
• Enhancing stakeholder knowledge, communication, and collaboration is crucial for future decision-making, balancing benefits and harms.