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What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and

Sylvia Martin1, Åsa Grauman1, Joshua Coulter2

  • 1Center for Research and Bioethics (CRB), Uppsala University, Uppsala, Sweden.

Public Health Genomics
|July 14, 2026
PubMed

Insights

Parental decisions on genetic newborn screening for rare diseases involve complex factors like disease certainty and potential negative outcomes. Clear communication and healthcare professional support are crucial for informed choices.

Area of Science:

  • Genetics
  • Public Health
  • Pediatrics

Background:

  • Rare diseases (RDs) present diagnostic challenges with significant patient and family burdens.
  • Genetic newborn screening (NBS) offers early diagnosis and treatment opportunities for RDs.
  • Parental involvement is key to the successful implementation of NBS programs.

Purpose of the Study:

  • To explore factors influencing parental decisions on participating in genetic NBS for RDs.
  • To compare these factors across two European countries: Italy and Germany.

Main Methods:

  • A mixed-methods qualitative study utilizing focus group discussions and ranking exercises.
  • Involved parents seeking genetic testing (n=5) and expecting parents (n=11).
  • Thematic analysis was conducted by two independent coders.

Main Results:

  • Key themes included decision-making complexity, the importance of disease certainty, and anticipation of negative consequences.
  • Parents expressed trust in healthcare professionals but stressed the need for education and support.
  • Concerns were raised regarding test accuracy, psychological impact, and social implications.

Conclusions:

  • Parental experiences and nuanced considerations are vital for genetic NBS for RDs implementation.
  • Accessible education, clear communication, and trusted healthcare professional support are essential.
  • Ethical reflection is necessary for equitable integration of genetic NBS into newborn care.
Abstract

Keywords:
Decision-makingGenetic newborn screeningParental preferencesQualitative researchRare diseases

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