Public views on participating in newborn screening using genome sequencing.

Area of Science:

• Genomics and Public Health
• Bioethics
• Population Health Management

Background:

• Whole-genome or exome sequencing (WG/ES) is increasingly discussed for newborn screening (NBS).
• Concerns exist about incidental findings and public acceptance of WG/ES in NBS.
• Public expectations and perceptions of parental responsibility for NBS are not well understood for WG/ES.

Purpose of the Study:

• To assess public willingness to participate in NBS using WG/ES compared to current NBS.
• To evaluate public beliefs about parental responsibility for WG/ES-based NBS versus current NBS.

Main Methods:

• Cross-sectional national survey of Canadian residents.
• Internet panel recruitment reflecting Canadian demographics.
• Self-reported attitudes on participation and parental responsibility were examined.

Main Results:

• Fewer respondents were willing to participate in NBS using WG/ES (80%) compared to current NBS (94%, P<0.001).
• A smaller proportion perceived parental responsibility for WG/ES-based NBS (30%) versus current NBS (48%, P<0.001).

Conclusions:

• Integrating WG/ES into NBS may decrease public participation rates.
• This could challenge the moral authority of NBS programs relying on population benefit.
• Caution is advised for the untargeted application of WG/ES in public health settings.