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[Neonatal screening and the right to know: ethical considerations]

Carlo Petrini1

  • 1Responsabile dell'Unità di Bioetica, Presidenza, Istituto Superiore di Sanità

Igiene E Sanita Pubblica
|October 30, 2014
PubMed

Insights

Newborn screening using tandem mass spectrometry offers extensive metabolic data. However, ethical considerations arise regarding parental rights to know results not covered by national screening programs, especially when it may not benefit the child.

Area of Science:

  • Biochemistry
  • Medical Ethics
  • Neonatal Care

Context:

  • Tandem mass spectrometry (TMS) is a powerful analytical technique for metabolite profiling.
  • Neonatal screening programs aim to detect congenital metabolic disorders early.
  • International variations exist in the scope of disorders included in newborn screening.

Purpose:

  • To explore the ethical implications of providing comprehensive TMS data beyond established national screening protocols.
  • To examine the concept of parental "right to know" in the context of neonatal screening.
  • To discuss the potential benefits and harms of disclosing incidental or non-standardized findings.

Summary:

  • Tandem mass spectrometry (TMS) generates extensive metabolite data for neonatal screening of congenital metabolic disorders.
  • Screening program variations across regions create an ethical dilemma regarding the "right to know" for parents.
  • Ethical considerations include the non-absolute nature of the right to know, parental judgment, and prioritizing the patient's best interest.

Impact:

  • Informs ethical guidelines for neonatal screening programs and genetic testing.
  • Promotes discussion on data sharing and parental consent in healthcare.
  • Highlights the importance of patient welfare over absolute information disclosure.

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