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. 2022 Jul 15;8(3):40.
doi: 10.3390/ijns8030040.

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

David Bick  1 , Arzoo Ahmed  1 , Dasha Deen  1 , Alessandra Ferlini  2 , Nicolas Garnier  3 , Dalia Kasperaviciute  1 , Mathilde Leblond  1 , Amanda Pichini  1 , Augusto Rendon  1 , Aditi Satija  1 , Alice Tuff-Lacey  1 , Richard H Scott  1
Affiliations

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

David Bick et al. Int J Neonatal Screen. .

Abstract

Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the lens of the Wilson and Jungner criteria. Each of the ten criteria are examined to show how they might be applied by programmes using genomic sequencing as a screening tool. While there are obvious advantages to a method that can examine all disease-causing genes in a single assay at an ever-diminishing cost, implementation of genomic sequencing at scale presents numerous challenges, some which are intrinsic to screening for rare disease and some specifically linked to genomics-led screening. In addition to questions specific to routine screening considerations, the ethical, communication, data management, legal, and social implications of genomic screening programmes require consideration.

Keywords: genome; newborn; screening; sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

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