and Martin Delatycki, as well as members of the Mackenzie's Mission Research and Gene Selection Committees, for helpful discussions that informed the drafting of this article. Competing interests: Lisa Dive's position at the University of Sydney is funded by Mackenzie's Mission. Ainsley Newson is a Chief investigator with Mackenzie's Mission.
Autonomy plays a central role in bioethics, but there is no consensus as to how we should understand this concept. This paper critically considers three different conceptions of autonomy: the default conception prevalent in bioethics literature; a broader procedural account of autonomy drawing on moral philosophical approaches; and a substantive, perfectionist account. Building on Rebecca Walker's critique of the default conception of autonomy, we will argue that a substantive, perfectionist approach both fulfils Walker's criteria for a conception of autonomy in bioethics and lends itself to application in practical scenarios. In so doing, we draw on scenarios from genomic medicine to show that a substantive, perfectionist approach not only offers a more conceptually adequate understanding of autonomy in more complex cases, but also lends itself to practical application by helping health professionals identify how they can maximize people's capacity to exercise their autonomy.
Reproductive genetic carrier screening (RCS) is increasingly being offered more widely, including to people with no family history or otherwise elevated chance of having a baby with a genetic condition. There are valid reasons to reject a prevention-focused public health ethics approach to such screening programs. Rejecting the prevention paradigm in this context has led to an emphasis on more individually-focused values of freedom of choice and fostering reproductive autonomy in RCS. We argue, however, that population-wide RCS has sufficient features in common with other public health screening programs that it becomes important also to attend to its public health implications. Not doing so constitutes a failure to address the social conditions that significantly affect people’s capacity to exercise their reproductive autonomy. We discuss how a public health ethics approach to RCS is broader in focus than prevention. We also show that additional values inherent to ethical public health—such as equity and solidarity—are essential to underpin and inform the aims and implementation of reproductive carrier screening programs.
Background: Biobanks provide an important foundation for genomic and personalised medicine. In order to enhance their scientific power and scope, they are increasingly becoming part of national or international networks. Public trust is essential in fostering public engagement, encouraging donation to, and facilitating public funding for biobanks. Globalisation and networking of biobanking may challenge this trust. Methods: We report the results of an Australian study examining public attitudes to the networking and globalisation of biobanks. The study used quantitative and qualitative methods in conjunction with bioethical analysis in order to determine factors that may contribute to, and threaten, trust. Results: Our results indicate a generally high level of trust in biobanks and in medical research more broadly. Key factors that can reduce perceived trustworthiness of biobanks are commercialisation and involvement in global networking. Conclusions: We conclude that robust ethical oversight and governance standards can both promote trust in global biobanking and ensure that this trust is warranted.
While this paper does not explicitly define the concept of autonomy, the way Ubel et al describe clinicians' failures to enhance their patients' autonomy reflects a broader understanding of autonomy than the default account as free and informed choice. In this OPC I would demonstrate that the communication strategies the authors recommend reflects a more sophisticated conception of autonomy than the understanding that typically prevails in bioethics. I will also distinguish between weak and strong forms of paternalism, and argue that a weak paternalistic approach is not only defensible but also aligns with the strategies the authors propose. Thus, by clarifying the concept of autonomy we can show how it can be enhanced in practice.
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a higher prevalence of certain severe recessive or X-linked genetic conditions, or (as carrier testing) to those with a family history of a particular genetic condition. Commercial providers are increasingly offering carrier screening on a user-pays basis. Some countries are also trialing or offering public reproductive genetic carrier screening with whole populations, rather than only to those known to have a higher chance of having a child with an inherited genetic condition. Such programs broaden the ethical and practical challenges that arise in clinical carrier testing. In this paper we consider three aspects of selecting genes for population reproductive genetic carrier screening panels that give rise to important ethical considerations: severity, variable penetrance and expressivity, and scalability; we also draw on three exemplar genes to illustrate the ethical issues raised: CFTR, GALT and SERPINA1. We argue that such issues are important to attend to at the point of gene selection for RGCS. These factors warrant a cautious approach to screening panel design, one that takes into account the likely value of the information generated by screening and the feasibility of implementation in large and diverse populations. Given the highly complex and uncertain nature of some genetic variants, careful consideration needs to be given to the balance between delivering potentially burdensome or harmful information, and providing valuable information to inform reproductive decisions.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.