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

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.