Medscape November 21, 2023
PARIS — Will the traditional newborn screening program developed 60 years ago by Dr Robert Guthrie soon be superseded by genome screening at birth? Routine sampling and analysis of newborn DNA would allow us to screen for many hundreds of childhood genetic diseases. This is the claim made by David Geneviève, MD, PhD, chair of the French Association of Clinical Geneticists and lecturer at the University of Montpellier, France, at the 9th annual conference of the French Society of Predictive and Personalized Medicine (SFMPP).
To date, newborn screening has consisted of taking a drop of blood from a newborn’s heel. In the future, DNA samples could be taken from babies for whole genome sequencing to look for diseases that are...
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