Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward

Population-based newborn screening (NBS) is among the most effective public health programs ever launched, improving health outcomes for newborns who screen positive worldwide through early detection and clinical intervention for genetic disorders discovered in the earliest hours of life. Key to the...

Full description

Bibliographic Details
Main Authors:	Vasiliki Rahimzadeh, Jan M. Friedman, Guido de Wert, Bartha M. Knoppers
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-07-01
Series:	Frontiers in Genetics
Subjects:	exome sequencing genome sequecing newborn screening population health genomics access public health ethics
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.865400/full

Similar Items

Cancer Patient Experience of Uncertainty While Waiting for Genome Sequencing Results
by: Nicci Bartley, et al.
Published: (2021-04-01)

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study
by: Brittan Armstrong, et al.
Published: (2022-04-01)

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns
by: Kuntal Sen, et al.
Published: (2021-11-01)

Editorial: Unveiling novel aspects of SARS-CoV-2 to combat COVID-19
by: Nimisha Ghosh, et al.
Published: (2024-02-01)

A policy Delphi study to validate the key implications of data sharing (KIDS) framework for pediatric genomics in Canada
by: Vasiliki Rahimzadeh, et al.
Published: (2021-06-01)

Newborn Screening Is on a Collision Course with Public Health Ethics
by: Robert J. Currier
Published: (2022-09-01)

Ethical and Psychosocial Implications of Genomic Newborn Screening
by: Harvey L. Levy
Published: (2021-01-01)

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
by: Alessandro Borghesi, et al.
Published: (2017-11-01)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
by: Burcu Yaldiz, et al.
Published: (2023-05-01)

Newborn sequencing is only part of the solution for better child health
by: Luca Brunelli, et al.
Published: (2023-09-01)

Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations
by: Juan F. Cabello, et al.
Published: (2021-01-01)

Beneficial effects of ginkgetin on improving nonalcoholic steatohepatitis characterized by bulk and single-cell RNA sequencing analysis
by: Chaoyang Wang, et al.
Published: (2023-10-01)

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design
by: Amanda Pichini, et al.
Published: (2022-05-01)

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing
by: Imane Lalami, et al.
Published: (2021-07-01)

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma
by: Lucas W. Thornblade, et al.
Published: (2021-08-01)

The Role and Challenges of Exome Sequencing in Studies of Human Diseases
by: Zuoheng eWang, et al.
Published: (2013-08-01)

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs
by: Lynn Bush, et al.
Published: (2022-05-01)

Genome-Wide and Exome-Capturing Sequencing of a Gamma-Ray-Induced Mutant Reveals Biased Variations in Common Wheat
by: Yuting Li, et al.
Published: (2022-01-01)

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
by: Kee Chan, et al.
Published: (2023-10-01)

The Future of Newborn Genomic Testing
by: John D. Lantos
Published: (2023-06-01)

Whole exome sequencing of a patient with metastatic hidradenocarcinoma and review of the literature
by: Eva Gupta, et al.
Published: (2015-02-01)

Newborn Screening by Genomic Sequencing: Opportunities and Challenges
by: David Bick, et al.
Published: (2022-07-01)

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
by: Melissa Hill, et al.
Published: (2022-07-01)

Implications of Genomic Newborn Screening for Infant Mortality
by: Monica H. Wojcik, et al.
Published: (2023-02-01)

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration
by: Kiran Narta, et al.
Published: (2023-02-01)

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center
by: Elizabeth K. Baker, et al.
Published: (2022-07-01)

A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms
by: Ayam Gupta, et al.
Published: (2020-08-01)

Genomics and Newborn Screening: Perspectives of Public Health Programs
by: Aaron J. Goldenberg, et al.
Published: (2022-01-01)

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
by: Kristen P. Fishler, et al.
Published: (2022-03-01)

Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital
by: Rajeswari Swaminathan, et al.
Published: (2018-02-01)

BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU
by: Ruibang Luo, et al.
Published: (2014-06-01)

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing
by: Calli O. Mitchell, et al.
Published: (2022-05-01)

Parental Preferences for Expanded Newborn Screening: What Are the Limits?
by: Nicole S. Y. Liang, et al.
Published: (2023-08-01)

Supplementary testing after negative or inconclusive exome sequencing results
by: Balsam AlMaarik, et al.
Published: (2023-06-01)

Clinical Applications of Next Generation Sequencing in Cancer: From panels, to exomes, to genomes
by: Tony eShen, et al.
Published: (2015-06-01)

The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review
by: Johanna Eichinger, et al.
Published: (2021-09-01)

Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America
by: André M. Ribeiro-dos-Santos, et al.
Published: (2020-10-01)

Clinicians’ Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss
by: Lauren Notini, et al.
Published: (2021-12-01)

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data
by: Manojkumar Kumaran, et al.
Published: (2019-06-01)

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
by: Jovanka R. King, et al.
Published: (2023-04-01)