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

Howard, Heidi; Knoppers, Bartha Maria; Cornel, Martina C; Wright Clayton, Ellen; Sénécal, Karine; Borry, Pascal; endorsed by the European Society of Human Genetics,

doi:10.1038/ejhg.2014.289

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

Author:

Howard, Heidi

Knoppers, Bartha Maria ; Cornel, Martina C ; Wright Clayton, Ellen ; Sénécal, Karine ; Borry, Pascal ; endorsed by the European Society of Human Genetics,

Keywords:

Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, BLOOD SPOT, CHALLENGES, Genetic Testing, Genome-Wide Association Study, Health Planning Guidelines, Humans, Infant, Newborn, Sequence Analysis, DNA, European Society of Human Genetics, P3G International Paediatric Platform, Human Genome Organisation; and the PHG Foundation, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

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.European Journal of Human Genetics advance online publication, 28 January 2015; doi:10.1038/ejhg.2014.289.