Prof. Margaret Otlowski1, Prof. Ainsley Newson2, Dr Gabriel Watts2, Dr Robin Banks1
1Center for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, Australia, 2Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
Biography:
Margaret is Professor of Law at University of Tasmania and Director of the Centre for Law and Genetics. Her research expertise is in health law focusing on law and genetics/genomics. She is an Investigator in an MRFF-funded gEnomics4newborns project and Fellow of the Australian Academy of Law.
Dr Gabriel Watts is a Post-Doctoral Research Fellow on the gEnomics4newborns project with Sydney Health Ethics at the University of Sydney.
Dr Robin Banks is a Post-Doctoral Research Fellow on the gEnomics4newborns project, working with the Centre for Law and Genetics in the Faculty of Law at the University of Tasmania. Robin is a human rights and discrimination lawyer and has worked across sectors, including as the Tasmanian Anti-Discrimination Commissioner.
Ainsley Newson is Professor of Bioethics at the University of Sydney. Ainsley has a longstanding track record in the ethics of newborn screening, including membership of the group that delivered Australia’s 2018 newborn bloodspot screening policy framework. Ainsley is an Investigator in two MRFF-funded projects looking at genomics in NBS.
Abstract:
Newborn screening (NBS) aims to identify babies at risk of developing a serious yet treatable condition. In recent decades, testing technologies have been introduced to enable an expansion of the conditions that NBS can screen for, e.g. genomic sequencing. While the use of genomics in NBS remains nascent, its possible introduction is under active consideration in many high-income countries, including in Australia.
Genomic newborn screening (gNBS) is underpinned by a rationale that a wide range of treatable conditions will be screened for and identified soon after birth, enabling more equitable communication of actionable information to families. However, significantly increasing the number of conditions screened for also increases the potential for actual or perceived missed cases. For instance, the demands of handling more testing volume, heightened expectations from patients and professionals, and the evidential and interpretive ambiguities that attend genomic testing can all lead to actual or perceived ‘missed’ cases.
In this panel we will consider ethical and legal issues pertaining to ‘missed’ cases in the context of the potential introduction of genomic sequencing as a first-line test in Australian NBS. Following a general introduction and overview [Margaret Otlowski (also Facilitator), 5 mins], we will begin by introducing exemplar conditions with high potential for missed cased [Ainsley Newson, 7 mins], followed by a discussion of ethical aspects of withholding information from screening results [Gabriel Watts, 14 mins]. We will conclude with a discussion of how legal liability for missed cases might arise and be determined [Robin Banks 14 mins].
Presentation Slides PDF – Click here