The place of uncertainty in the ethical delivery of health genomics
Ainsley Newson1, Kelly Ormond2, Sydney Health Ethics, University Of Sydney 2, 1Sydney Health Ethics, University Of Sydney Australia2ETH Zürich Switzerland
Abstract
Genomic screening and testing are increasingly being rolled out across various health domains, such as clinical care, population health and research. Improvements in sequencing technology and reductions in its cost mean that the default approach is frequently to look at more of the genome rather than less. However, generating genomic sequence data does not always straightforwardly enable its interpretation, and it is widely acknowledged that genomic screening and testing may increase, rather than resolve, uncertainty. In this paper, we will build on previous work on ethical management of uncertainty in genomic health. We start by presenting a taxonomy of genomic uncertainty. We then synthesise and critique responses to genomic uncertainty, to arrive at two claims. First, the inherent uncertainty in genomic screening and testing needs to be actively considered as part of health system planning in whatever setting genomic sequencing is to take place. Properly attending to genomic uncertainty also necessitates resisting or negating hype. Second, uncertainty can offer a valid justification for limiting the scope of genomic screening or testing. This is because sustainable (in all respects) provision of genomic testing needs to account for the psychosocial impact of uncertainty and its attendant ongoing management. Dealing with uncertainty will also impact scarce resources such as genetic counselling and even the carbon footprint of data storage and reinterpretation. Ultimately, uncertainty will remain inherent to genomic health, even with exemplary knowledge. Ethical provision of genomic sequencing in health necessitates both planning for uncertainty and minimising its impact.
Biography
Ainsley Newson is a bioethics academic whose research focuses on the ethical implementation of genomics in human health. Ainsley’s recent projects have focused on reproductive genetic carrier screening, prenatal genomics, the role of genomics in newborn screening, the ethical governance of genomic data and commercial influence on reproductive technologies.