Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

Area of Science:

• Medical Genetics
• Public Health Policy
• Bioethics

Background:

• Neonatal bloodspot screening (NBS) is expanding due to technological advancements, increasing potential health benefits for newborns.
• This expansion introduces significant healthcare, ethical, and societal challenges that require careful consideration.

Purpose of the Study:

• To explore multi-stakeholder perspectives on the current and future expansion of neonatal bloodspot screening (NBS).
• To understand the benefits, challenges, and acceptance of NBS expansion among professionals and parents.

Main Methods:

• Qualitative study employing semi-structured interviews with 22 Dutch professionals (healthcare providers, test developers, policymakers) and 17 parents.
• Exploration of themes including current expansion benefits/challenges, future expectations, and acceptance/consent procedures.

Main Results:

• Overall positive attitude towards NBS expansion for treatable disorders and health gain.
• Concerns identified: uncertain results, diagnosing asymptomatic mothers, subgroup screening, untreatable conditions, and complex consent.
• Two distinct perspectives on future NBS scope emerged: 'targeted-scope' (neonate health gain only) and 'broad-scope' (including reproductive planning and autonomy).

Conclusions:

• NBS expansion is viewed favorably when focused on treatable conditions and health benefits.
• Addressing concerns about uncertain results and respecting diverse stakeholder views on scope and autonomy is crucial for future NBS policy.
• Policymakers must engage with both targeted and broad scope perspectives to guide NBS development effectively.