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Updated: Jul 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Storing paediatric genomic data for sequential interrogation across the lifespan.

Christopher Gyngell^1,2, Fiona Lynch^1,3, Danya Vears^1,2

¹Biomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Journal of Medical Ethics

|June 1, 2023

Summary

Storing genomic data from newborn screening can benefit individuals and public health throughout life. Ethical considerations like privacy and consent must be addressed for this lifetime health resource.

Keywords:

Databases- Genetic Ethics- Medical Pediatrics Policy

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Methyl-binding DNA capture Sequencing for Patient Tissues

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Published on: October 31, 2016

Area of Science:

Genomics
Bioethics
Paediatric Medicine

Background:

Genomic sequencing (GS) is expanding in pediatric medicine for screening, research, and treatment.
Health systems are piloting GS in newborn screening programs, raising questions about genomic data management.
Existing research addresses ethical storage of de-identified genomic data for research, but not for future clinical use.

Purpose of the Study:

To examine the ethical case for storing genomic data as a lifetime health resource.
To explore the potential benefits of reanalyzing genomic data throughout an individual's life.
To identify and address ethical challenges associated with long-term genomic data storage.

Main Methods:

Ethical analysis of storing genomic data for sequential reanalysis.
Examination of privacy, consent, justice, and equality issues.
Review of current practices and future implications in genomic medicine.

Main Results:

Storing genomic data as a lifetime resource offers potential individual and public benefits.
Reanalysis of genomic data can provide ongoing clinical insights.
Significant ethical challenges, including privacy and equity, require careful consideration.

Conclusions:

Health systems should develop frameworks for the sequential interrogation of genomic data across the lifespan.
Ethical guidelines are crucial to ensure responsible storage and reanalysis of genomic data.
Genomic data holds promise as a dynamic resource for lifelong health management.