'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives

Didu S Kariyawasam; Joanne Scarfe; Christian Meagher; Michelle A Farrar; Kaustav Bhattacharya; Stacy M Carter; Ainsley J Newson; Margaret Otlowski; Jo Watson; Nicole Millis; Sarah Norris

doi:10.1371/journal.pone.0299336

'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives

PLoS One. 2024 Mar 25;19(3):e0299336. doi: 10.1371/journal.pone.0299336. eCollection 2024.

Authors

Didu S Kariyawasam^{1

2}, Joanne Scarfe³, Christian Meagher², Michelle A Farrar^{1

2}, Kaustav Bhattacharya^{2

4

5}, Stacy M Carter⁶, Ainsley J Newson⁷, Margaret Otlowski⁸, Jo Watson⁹, Nicole Millis¹⁰, Sarah Norris³

Affiliations

¹ Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
² Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
³ Faculty of Medicine and Health, Sydney School of Public Health, Menzies Centre for Health Policy & Economics, The University of Sydney, Camperdown, New South Wales, Australia.
⁴ Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Randwick and Westmead, New South Wales, Australia.
⁵ Faculty of Medicine and Health, Discipline of Genomics, Sydney University, Westmead, New South Wales, Australia.
⁶ Australian Centre for Health Engagement, Evidence and Values, School of Health and Society, The University of Wollongong, Wollongong, New South Wales, Australia.
⁷ Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
⁸ Centre for Law and Genetics, Faculty of Law, College of Arts, Law and Education, University of Tasmania, Tasmania, Australia.
⁹ HTA Consumer Consultative Committee, Department of Health & Aged Care, Canberra, Australian Capital Territory, Australia.
¹⁰ Rare Voices Australia, Mentone, Victoria, Australia.

Abstract

Background: Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia's newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts. We must ask not only 'can' we use genomics to screen newborns?' but 'should we'?' and 'how much should health systems invest in genomic newborn screening?'.

Methods: This study will use qualitative methods to explore understanding, priorities, concerns and expectations of genomic newborn screening among parents/carers, health professionals/scientists, and health policy makers across Australia. In-depth, semi-structured interviews will be held with 30-40 parents/carers recruited via hospital and community settings, 15-20 health professionals/scientists, and 10-15 health policy makers. Data will be analysed using inductive content analysis. The Sydney Children's Hospital Network Human Research Ethics Committee approved this study protocol [2023/ETH02371]. The Standards for Reporting Qualitative Research will guide study planning, conduct and reporting.

Discussion: Few studies have engaged a diverse range of stakeholders to explore the implications of genomics in newborn screening in a culturally and genetically diverse population, nor in a health system underpinned by universal health care. As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening.

Copyright: © 2024 Kariyawasam et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

MeSH terms

Child
Genome*
Genomics
Humans
Infant
Infant, Newborn
Neonatal Screening*
Parents
Qualitative Research

Grants and funding

This study was funded by The Commonwealth of Australia Medical Research Future Fund, 2021 Genomics Health Futures Mission under the activity title gEnomics4newborns: integrating Ethics and Equity with effectiveness and economics for genomic newborn screening (APP2015965). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.