Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

Danya F Vears; Julian Savulescu; John Christodoulou; Meaghan Wall; Ainsley J Newson

doi:10.2147/PGPM.S376083

Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

Pharmgenomics Pers Med. 2023 Jul 1:16:681-691. doi: 10.2147/PGPM.S376083. eCollection 2023.

Authors

Danya F Vears^{1

2}, Julian Savulescu^{3

4

5

6}, John Christodoulou^{1

2}, Meaghan Wall⁷, Ainsley J Newson⁸

Affiliations

¹ Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia.
² University of Melbourne, Melbourne, Victoria, 3052, Australia.
³ Chen Su Lan Centennial Professor in Medical Ethics, Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
⁴ Visiting Professorial Fellow in Biomedical Ethics, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁵ Distinguished Visiting Professor in Law, Melbourne University, Carlton, Victoria, Australia.
⁶ Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK.
⁷ Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁸ Faculty of Medicine & Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Sydney, New South Wales, Australia.

Abstract

The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not "if" but "when and how" genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues relating to the use of genomic sequencing in a range of clinical settings. This review article synthesises the panel discussion and presents both the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic newborn screening is critical to the success of GNBS programs, both from a practical perspective and also in order to maintain public trust in an important public health initiative.

Keywords: bioethics; consent; genomic sequencing; infants.

Publication types

Review