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Related Experiment Videos

[Sequencing babies?].

Bertrand Jordan1

  • 1UMR 7268 ADÉS, Aix-Marseille, Université/EFS/CNRS, Espace éthique méditerranéen, hôpital d'adultes la Timone, 264, rue Saint-Pierre, 13385 Marseille Cedex 05, France - CoReBio PACA, case 901, parc scientifique de Luminy, 13288 Marseille Cedex 09, France.

Medecine Sciences : M/S
|October 21, 2015
PubMed
Summary
This summary is machine-generated.

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Genome sequencing for newborn screening is feasible, but requires careful consideration of scientific, organizational, and ethical challenges. Ongoing trials aim to maximize benefits and mitigate risks of this emerging technology.

Area of Science:

  • Genomics
  • Medical Diagnostics
  • Public Health

Context:

  • Newborn screening programs are established public health initiatives.
  • Advances in genome sequencing technology make its application to newborns increasingly feasible.
  • The private sector is beginning to offer direct-to-consumer genomic services for infants.

Purpose:

  • To explore the scientific, organizational, and ethical implications of extending newborn screening to include genome sequencing.
  • To identify strategies for maximizing the benefits of genomic newborn screening.
  • To proactively address and mitigate potential risks associated with genomic newborn screening.

Summary:

  • Genome sequencing is a potential extension of current newborn screening protocols.
  • Implementing genomic newborn screening necessitates addressing complex scientific, organizational, and ethical considerations.

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  • Urgent exploration through discussions and funded trials is underway due to the rapid advancement and commercial availability of these services.

    • Impact:

    • Informing the development of responsible policies and guidelines for genomic newborn screening.
    • Guiding the ethical implementation of genome sequencing in pediatric diagnostics.
    • Ensuring equitable access and benefit from advanced genomic technologies for all newborns.