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Area of Science:

  • Genomics and Public Health
  • Bioethics
  • Pediatric Policy

Background:

  • State-mandated newborn screening (NBS) faces challenges with the integration of whole-genome sequencing (WGS).
  • Ethical, policy, and clinical practice issues arise from expanding NBS with WGS.

Purpose of the Study:

  • To examine perspectives of pregnant women and parents of children with primary immunodeficiency disorders on traditional NBS and WGS-expanded NBS.
  • To understand values related to genomic applications in newborn screening.

Main Methods:

  • Four focus groups were conducted with diverse pregnant women (n=26) and parents of children with primary immunodeficiency disorders (n=5).
  • Discussions covered traditional NBS, informed consent, return of results, and data storage.

Main Results:

  • Participants desired greater inclusion in the NBS process.
  • Concerns about privacy and control over genomic test results were raised, stemming from limited trust in the medical system and state NBS programs.
  • Optimism existed regarding the potential benefits of genomic NBS, with perceived limited harms.

Conclusions:

  • Expanded NBS with WGS requires robust informed-consent processes for managing genomic data and blood spot storage.
  • Implementation necessitates understanding how these technologies are perceived by diverse populations.
  • Pediatricians may need to manage a wider range of genetic conditions, including adult-onset disorders.