CareLit Fachartikel
The case against genomic sequencing of healthy newborns
Ross, L.F. · Ethik in der Medizin · 2025 · Heft 7 · S. 1 bis 19
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562002
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Jahr
2025
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Zusammenfassung
BackgroundThe history of newborn screening (NBS) begins with the discovery, treatment, and diagnosis of phenylketonuria (PKU), an inherited metabolic disorder that can cause intellectual and developmental disabilities if a special diet is not begun shortly after birth. Asbjørn Følling of Norway is credited with discovering PKU in 1934 (Følling 1994). In the 1950s, scientist-clinicians at Birmingham Children’s Hospital (Horst Bickel) and Great Ormond Street (Louis Woolf) in the United Kingdom (UK) developed a phenylalanine-free medical diet for children with PKU (Woolf and Adams 2020). Less than a decade later, R…
Schlagworte
Neugeborenen-Screening
PKU
genetische Sequenzierung
metabolische Störungen
Diagnose
universelles Screening
Newborn Screening
Phenylketonurias
Genetic Testing
Metabolic Disorders
Diagnosis
Universal Screening
Ethik in der Medizin
