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Eur J Hum Genet. 2015 Dec;23(12):1593-600. doi: 10.1038/ejhg.2014.289. Epub 2015 Jan 28.

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Author information

  • 1Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
  • 2Department of Human Genetics, Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
  • 3Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
  • 4Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN, USA.
  • 5Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium.

Abstract

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.

PMID:
25626707
[PubMed - in process]
PMCID:
PMC4795188
Free PMC Article
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