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The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing

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Abstract

Precision medicine aims to tailor medical treatment to match individual characteristics and to stratify individuals to concentrate benefits and avoid harm. It has recently been joined by precision public health—the application of precision medicine at population scale to decrease morbidity and optimise population health. Newborn preventive genomic sequencing (NPGS) provides a helpful case study to consider how we should approach ethical questions in precision public health. In this paper, I use NPGS as a case in point to argue that both precision medicine and precision public health need public health ethics. I make this argument in two parts. First, I claim that discussions of ethics in precision medicine and NPGS tend to focus on predominantly individualistic concepts from medical ethics such as autonomy and empowerment. This highlights some deficiencies, including overlooking that choice is subject to constraints and that an individual’s place in the world might impact their capacity to ‘be responsible’. Second, I make the case for using a public health ethics approach when considering ethics and NPGS, and thus precision public health more broadly. I discuss how precision public health needs to be construed as a collective enterprise and not just as an aggregation of individual interests. I also show how analysing collective values and interests through concepts such as solidarity can enrich ethical discussion of NPGS and highlight previously overlooked issues. With this approach, bioethics can contribute to more just and more appropriate applications of precision medicine and precision public health, including NPGS.

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Notes

  1. There is some debate over what precision public health actually is (e.g. Olstad and McIntyre 2019) and whether it is an appropriate public health exercise at all (e.g. Bayer and Galea 2015). And there is debate (e.g. Brothers et al. 2019) over which testing contexts would qualify as precision medicine. In this paper, I assume that the example I discuss—newborn preventive genomic sequencing—is an example of precision public health, and that precision public health is a form of public health.

  2. It is assumed that any such precision public health initiative would be publicly funded. Additional ethical concerns will arise with precision public health initiatives in a user-funded or personal insurance-based healthcare system. While a full discussion is beyond the scope of this paper, these are questions that public health ethics can help address.

  3. At the time of writing, example tests include the BabyGenes™ test from South Genetics (https://southgenetics.com/babygenes/), the Nova™ Postnatal Peace test from sellers including EasyDNA (https://www.easydna.com.au/downloads/postnatalnova.pdf), the Natalis™ test from sema4 (https://sema4.com/products/natalis/), the NextGen test from GenePath laboratories (https://www.genepathlabs.com.au/nextgentest), and the Children’s DNA Kit (0–3 years) from TellMeGen (https://shop.tellmegen.com/en/kits/11-dna-test-kid-0-3-years.html). All websites accessed in February 2021.

  4. I endorse the point made by Bunnik et al (2015) that genomic information has personal utility: “if and only if it can reasonably be used for decisions, actions or self-understanding.” These authors assert that “perceived utility does not equal personal utility.” As such, mere curiosity will not beget utility; while sound clinical judgement might.

  5. There is a wider ethical question regarding how to ethically manage the potential for overdiagnosis in population screening. The key issue is whether it is more appropriate to over-diagnose and generate harms, or under-diagnose and not detect everyone. Debate on this continues yet is beyond the scope of this paper to address.

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Acknowledgements

Thank-you to past and present colleagues at Sydney Health Ethics who contributed many helpful ideas, especially Prof Angus Dawson and Prof Stacy Carter. Research Assistance to support aspects of this paper was provided by Patrick McConville.

Funding

Sydney Medical School Research Accelerator Award (2017-18), University of Sydney.

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  1. Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Level 1 Medical Foundation Building, 92-94 Parramatta Road, Sydney, NSW, 2006, Australia

    Ainsley J. Newson

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Newson, A.J. The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing. Hum Genet 141, 1035–1043 (2022). https://doi.org/10.1007/s00439-021-02269-0

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