Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism

Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of thousands of genetic diseases that are not currently included in universal newborn screening. Most of the serious ethical, legal, privacy, and social concerns raised by genome sequencing of all infants can be avoided by implementing genomic newborn screening in accordance with widely-accepted public health criteria.

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Publication Details

Journal
npj Genomic Medicine
Published
2024-12-19
DOI
https://doi.org/10.1038/s41525-024-00451-7
Citations
11
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
6.05
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article

Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism

Jan M. Friedman
11 citations
npj Genomic Medicine
Genomics and Rare Diseases
6.05
article

Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism

Jan M. Friedman
article en
11 citations

Abstract

Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of thousands of genetic diseases that are not currently included in universal newborn screening. Most of the serious ethical, legal, privacy, and social concerns raised by genome sequencing of all infants can be avoided by implementing genomic newborn screening in accordance with widely-accepted public health criteria.

npj Genomic MedicineVol. 9(1)
University of British Columbia Hospital (CA), University of British Columbia (CA)
Openalex Percentile: Top 3%
Genomics and Rare Diseases
6.05
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