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The blurred distinction between treatable and untreatable conditions in newborn screening

Donald B Bailey1

  • 1RTI (Research Triangle Institute) International, USA.

Health Matrix (Cleveland, Ohio : 1991)
|May 23, 2009
PubMed

Insights

Newborn screening is expanding to include conditions without early effective treatments. This study questions disclosure policies and explores future screening possibilities for all infants.

Area of Science:

  • Medical ethics
  • Public health policy
  • Genetics

Background:

  • Newborn screening (NBS) historically included only conditions with early, effective treatments.
  • Expanding NBS to untreatable conditions raises ethical questions about parental disclosure.

Purpose of the Study:

  • To examine the ethical implications of disclosing information about untreatable conditions found via NBS.
  • To challenge the traditional distinction between treatable and untreatable conditions in NBS.
  • To propose a framework for future NBS expansion.

Main Methods:

  • Literature review and ethical analysis.
  • Exploration of potential future treatments for currently "untreatable" conditions.
  • Policy and research question formulation.

Main Results:

  • The treatable/untreatable distinction for NBS is becoming less clear.
  • Potential interventions exist even for conditions lacking early, effective treatments.
  • Future NBS may include a broader range of conditions.

Conclusions:

  • NBS policy must adapt to include conditions without immediate treatments.
  • Further research and policy development are needed for rational NBS expansion.
  • Ethical guidelines for parental disclosure require re-evaluation.

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