Newborn Screening by Genomic Sequencing: Opportunities and Challenges

被引：44

作者：

Bick, David ^{[1
]}

Ahmed, Arzoo ^{[1
]}

Deen, Dasha ^{[1
]}

Ferlini, Alessandra ^{[2
]}

Garnier, Nicolas ^{[3
]}

Kasperaviciute, Dalia ^{[1
]}

Leblond, Mathilde ^{[1
]}

Pichini, Amanda ^{[1
]}

Rendon, Augusto ^{[1
]}

Satija, Aditi ^{[1
]}

Tuff-Lacey, Alice ^{[1
]}

Scott, Richard H. ^{[1
]}

机构：

[1] Genom England Ltd, Dawson Hall,Charterhouse Sq, London EC1M 6BQ, England

[2] Univ Ferrara, Dept Med Sci, Med Genet Unit, I-44121 Ferrara, Italy

[3] Pfizer Inc, Collegeville, PA 19426 USA

来源：

INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2022年 / 8卷 / 03期

关键词：

newborn; screening; genome; sequencing; JOINT CONSENSUS RECOMMENDATION; MEDICAL GENETICS; AMERICAN-COLLEGE; VARIANTS; PRINCIPLES; GUIDELINES; DISORDERS; STANDARDS; UTILITY;

D O I：

10.3390/ijns8030040

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：13

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