Ainsley Janelle Newson

Introduction: The translational nature of genomics highlights the importance of developing a robust genomic data governance framework. To inform the development of such a framework for Australia, we conducted a scoping review to identify genomic data governance and management differences between research and clinical care. Methods: For this scoping review, four databases were searched and 9528 relevant articles published between January 2013 and October 2024 were identified. After screening, 43 empirical, legal and theoretical/commentary articles were included. The differences reported to affect genomic data governance and management practices across clinical and research settings were extracted and synthesised. Results: Fifteen empirical articles revealed that the ‘community’ and the ‘workforce’ reported different consent priorities and differing understandings of the expected benefits of providing genomic data for research. Three legal articles reiterated the influence of regulatory regimes on genomic data practices and rights. Lastly, all twenty‐five theoretical/commentary articles were authored by researchers; none by community representatives. While 3/25 articles described the genomic data practices of rare and undiagnosed disease patient populations, 22/25 examined the ethical, legal and social implications arising from genomic data. Among the latter, 14/22 proposed ‘solutions’ to address identified genomic data challenges associated with consent, returning research genomic data to patients and advancing precision medicine. Conclusion: Differences in understanding, expectations and regulatory regimes can challenge genomic data governance and management practices and perceptions. Considering the implications of these challenges, meaningful community involvement will be critical in developing a governance framework that responsibly leverages genomic data to deliver more equitable health care. Lived Experience or Public Contribution: Members of the Genetic, Undiagnosed and Rare Disease (GUARD) Collaborative – the LINEAGE Consortium's Community Advisory Group partner – Emma Bonser, Monica Ferrie, Alex Fulton, Caroline Kiefer, Kate Marchant, Tony Neilson, Maya Pinn, Tania Prior‐Smith, Heather Renton, Susie Roczo‐Farkas and Joel Taggart contributed community perspectives and critical reflections during discussions of early findings, informing the development of this manuscript. Kate Marchant, a LINEAGE‐GUARD member, is an author of this manuscript, contributing critical revisions and approving the final manuscript.

We thank our commentators for their thoughtful responses to our Target Article (Watts and Newson 2026), as well as Halley (2026) for her editorial. In our article we sought to clarify what is at st...

The exponential growth of human genomic data presents a largely unexamined environmental challenge. Generating, storing, processing, using and sharing genomic data each contribute to environmental harms through substantial energy demands, resource use, and waste generation. This paper examines how we ought to respond to these environmental harms. We first argue that the environmental harms from genomic data warrant serious ethical consideration, even though the magnitude of such harms is relatively small compared to some other industries (e.g., fossil fuel industries). We then explore potential strategies for mitigation. While it is important to improve how genomic data is handled and to optimise the infrastructure required for handling it, we contend that these measures are not sufficient. We should, at least in some cases, also limit the amount of genomic data we generate and (continue to) store for environmental reasons. Although we recognise the uncertainty around the value of genomic data—what seems irrelevant today could prove valuable tomorrow—we argue that such uncertain benefits cannot justify unlimited data generation and retention. Decisions about when and how to limit genomic data should consider a range of factors, including which social groups are most likely to benefit from genomic research and which are most likely to bear its environmental harms.

Introduction: This project will establish a nationally consistent and ethically defensible approach to embed genomic testing in Australian primary care. Many non-genetic health professionals (eg, general practitioners (GPs) and other specialists) have limited experience with such testing. Current tests—both subsidised and consumer-paid—target a range of genes and conditions, making appropriate selection challenging. A structured implementation approach is therefore crucial. We will develop, test, refine and evaluate internationally relevant tools to support GPs and consumers in using genomics effectively. Methods and analysis: Aims of the project are to (1) develop, implement and evaluate key supports for GPs offering tests through three interventions: primary health point-of-care resources, a practical guide to dealing with ethical issues affecting clinicians and established recommendations for a national approach for genetic counsellors to support GPs providing genetic testing; (2) develop and evaluate consumer resources and plan the implementation strategies; (3) evaluate real-world utilisation and equity of access to genetic testing in primary care using linked Medicare and population data. This project will focus on two genomic applications recently made available in Australia on the universal insurance scheme (Medicare): a reproductive genetic carrier screen (an example of the role of genetics in reproductive testing) and genetic testing for familial hypercholesterolaemia (an example of a condition-specific test). Both tests can be complex for GPs to understand and explain to consumers and have potential implications beyond the purpose of the test (eg, personal health implications for carriers and results are also relevant to genetic relatives). Developing a robust clinical pathway and process for these tests will prepare GPs for future more complex applications of clinical genomics. The study will take place from January 2024 to December 2026. Ethics and dissemination: Ethical approval for this work has been received from the Macquarie University Human Research Ethics Committee (Ref: 520241849560183) and the Royal Children’s Hospital Research Ethics and Governance (HREC/112451). Findings will be disseminated via publications, conferences and engagement with primary care networks and policymakers.

This study explores parents’ perspectives on expanded genomic testing in pregnancy and its implications for reproductive autonomy. We conducted four workshops using dialogue group methodology and involving thirty-three Australian parents with recent experience of pregnancy. Participants used a fictional scenario involving prenatal testing to reflect on their own experiences and views. Four interconnected themes were identified: barriers to autonomous testing and choice, the need for guidance and support through the decision-making process, the impact of stress and social expectations on reproductive autonomy, and the importance of information to reproductive autonomy. Participants valued genomic information to help in decision-making and to give reassurance but struggled to comprehend the nature of the information that expanded testing could provide. They relied on trusted healthcare professionals to interpret the meaning of test results but recognized the reality of constraints on healthcare resources. Our findings show that reproductive autonomy in this context is both individual and relational and requires health systems that support values-based decision-making. In an era of expanding prenatal genomic testing, our study highlights the need for a framework for reproductive autonomy that goes beyond information provision, to provide the conditions necessary for genuinely autonomous decision-making.

Newborn bloodspot screening (NBS) programs aim to identify babies at risk of developing serious conditions where an effective preventive or ameliorative intervention is available in infancy or early childhood. In recent decades, new testing technologies have been introduced into NBS to expand the number of screened conditions. This now also includes the possible introduction of genomic sequencing. Those who support genomic newborn screening (gNBS) do so on the rationale that a wider range of treatable conditions will be able to be screened for, and that gNBS will enable more equitable communication of actionable information to families. However, significantly increasing the number of conditions screened for may also increase expectations of screening coverage. Within a context of increased expectations of conditions being detected via gNBS, there is also the potential for actual or perceived ‘missed cases’, a situation where a newborn has (or will soon develop) a genetic condition that was not detected on screening. In this paper, we consider legal and ethical issues pertaining to missed cases in gNBS. We argue that certain missed cases in gNBS constitute neither a legal nor moral harm, especially where gNBS is delivered within a systematic screening program rather than via a commercially marketed test. However, should gNBS be introduced, engaging with key interest-holders such as parents and policy-makers will be vital to ensure that the scope and limitations of gNBS are both appreciated and accepted, and that public trust in this important population screening program is maintained.

The integration of genomic sequencing into newborn screening (genomic newborn screening; gNBS) has the potential to identify more presymptomatic babies who could benefit from early intervention compared to traditional universal newborn screening (NBS). Realizing these benefits requires careful navigation of ethical, legal, and social implications (ELSI) to minimize harms, promote equity, and maintain trust in NBS programs. The primary objective of this scoping review is to synthesize the ELSI discussed in the gNBS literature, to support implementation and identify knowledge gaps. A secondary objective is to characterize the landscape and contours of the gNBS field. This review, conducted in July 2025, includes academic literature addressing genomic sequencing as a first‑line NBS screen. ELSI were identified within each publication, and these informed the development of a set of decision points with ELSI dimensions within gNBS. A total of 485 publications met inclusion criteria, with the first published in 1987. The volume of publications increased over time, with growing proportions of empirical studies and work associated with gNBS projects, alongside a decreasing proportion of publications from North America. In total, 3781 ELSI considerations were charted using AI-assisted methods, relevant to 59 decision points organized into nine areas. Current scholarship is concentrated on early implementation questions, while long‑term operational needs—such as data stewardship, clinical follow‑up, and sustainable governance—remain underexplored. These gaps, together with limited contributions from many regions due to a multitude of factors, highlight the need for more diverse, empirically grounded, and forward‑looking research to support responsible decisions around gNBS.

The integration of genomic sequencing into newborn screening (genomic newborn screening; gNBS) has the potential to identify more presymptomatic babies who could benefit from early intervention compared to traditional universal newborn screening (NBS). Realizing these benefits requires careful navigation of ethical, legal, and social implications (ELSI) to minimize harms, promote equity, and maintain trust in NBS programs. The primary objective of this scoping review is to synthesize the ELSI discussed in the gNBS literature, to support implementation and identify knowledge gaps. A secondary objective is to characterize the landscape and contours of the gNBS field. This review, conducted in July 2025, includes academic literature addressing genomic sequencing as a first‑line NBS screen. ELSI were identified within each publication, and these informed the development of a set of decision points with ELSI dimensions within gNBS. A total of 485 publications met inclusion criteria, with the first published in 1987. The volume of publications increased over time, with growing proportions of empirical studies and work associated with gNBS projects, alongside a decreasing proportion of publications from North America. In total, 3781 ELSI considerations were charted using AI-assisted methods, relevant to 59 decision points organized into nine areas. Current scholarship is concentrated on early implementation questions, while long‑term operational needs-such as data stewardship, clinical follow‑up, and sustainable governance-remain underexplored. These gaps, together with limited contributions from many regions due to a multitude of factors, highlight the need for more diverse, empirically grounded, and forward‑looking research to support responsible decisions around gNBS.