https://orcid.org/0000-0002-6290-545X
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.
Acknowledgments
The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children’s Hospital Foundation. This work was supported by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant numbers 76749 and MRF2015937), and the Australian Research Council (Grant number DP190101547). We also thank Profs Lynn Gillam and John Massie, and Drs Fiona Lynch and Christopher Gyngell for their assistance in the planning and execution of the panel discussion.
Disclosure
Julian Savulescu is a Partner Investigator on an Australian Research Council Linkage award (LP190100841, Oct 2020‐2023) which involves industry partnership from Illumina. He does not personally receive any funds from Illumina. Julian Savulescu presented at a Genomic Prediction‐organised webinar (2021), but received no payment or other benefits from Genomic Prediction Ltd. Julian Savulescu is a Bioethics Committee consultant for Bayer. Julian Savulescu also reports grants from Wellcome Centre for Ethics and Humanities, Centre for Ethics of Paediatric Genomics, Murdoch Children’s Research Institute, Chen Su Lan Research Funding, during the conduct of the study; and is an advisory panel member for the Hevolution Foundation, outside the submitted work. Professor Ainsley J Newson reports grants from Medical Research Future Fund, during the conduct of the study; and Ainsley Newson is a member of the New South Wales Newborn Screening Expert Advisory Group. The remaining authors declare no conflicts of interest in this work.