This paper reports the results of an Australian qualitative study investigating the return of raw genomic data to research study participants. Increasing numbers of participants request access to their raw genomic data, although the legal position in relation to whether data should be returned lacks clarity, particularly in Australia. Interviews were conducted with stakeholders involved in two research studies where participants have undergone whole genome sequencing: ZERO Childhood Cancer, and the Australian Pancreatic Cancer Genome Initiative. Four major themes were identified: whether raw genomic data should be returned; reasons for seeking access; risks in returning data; and processes for return. Our findings indicate that health professionals, scientists, bioinformaticians, patients and patient advocates overwhelmingly support the return of raw data upon request, with ethical imperatives providing a strong basis for this support. Many stakeholders went on to stress the importance of adequate support for participants to ensure risks associated with the return of raw genomic data are minimized, including the provision of explanation and, where necessary, counselling and clinical advice. Our findings provide a basis for arguing that adequate resourcing must be built into research projects from the outset, given expected increases in participant demand for genomic data.

BACKGROUND:Public trust in research depends in part on the capacity of the system to detect and correct errors in the research record. In Australia, this task is largely entrusted to research institutions through a self-regulatory framework. The present article seeks to contribute to ongoing conversations about whether the Australian framework is fit for purpose. METHODS:Here, we assemble and analyze two sources of information that appear not to have been previously analyzed: research misconduct investigation policies at Australian Group of Eight universities (a group of Australian universities that purport to be its leading research-intensive universities) and published decisions and appeals arising from workplace disputes involving allegations of research misconduct. RESULTS:Together, these materials support existing concerns that universities are not adopting robust policies regarding reporting findings of misconduct and correcting the record, and that they sometimes fail to follow their own policies. CONCLUSION:Claims that the current self-regulatory approach is sufficient are not supported by our evidence. These findings provide a foundation for reform, including revisions to the existing guidelines and the creation of an independent oversight body with adequate enforcement powers.

The concepts of uncertainty and trust in genomic research and clinical care have not been consistently defined across studies, leading to varied claims about the relationship between them. The role that social groups play in this relationship is also therefore unclear. A categorisation of themes of trust and uncertainty will help to clarify and compare research claims. A review was conducted of peer-reviewed literature that discussed both ‘trust’ and ‘uncertainty’ in genomics research and/or medicine from 1 January 2018 to 28 June 2024. Exclusion criteria removed studies that did not focus on human genomics, and did not mention ‘trust’ or ‘uncertainty’. Discussions of ‘trust’, ‘uncertainty’ and ‘social groups’ were coded into distinct categories. The search returned 1070 unique abstracts from which 26 studies passed the exclusion criteria. Sixteen distinct uses of ‘trust’ and fifteen uses of ‘uncertainty’ were identified alongside sixteen social groups. Relationships between uncertainty and trust were often described as being mediated by a third variable. Irreducible forms of uncertainty reported in studies suggest a need to move towards assisting patients and data donors understand and feel comfortable with uncertainty and make use of ‘productive uncertainties’ to foster trust. More research is needed to understand how social group belonging may shape the relationship between trust and uncertainty.

Indigenous communities are under-represented in genomics research, contributing to inequitable health-related knowledge, outcomes, and benefits. Under-representation reflects enduring consequences of colonial research practices that have engendered cultural, ethical, legal, and social (CELS) concerns among communities. Researchers must understand, navigate, and address these in their research practices. This study aimed to identify and synthesise CELS considerations to inform Indigenous genomics research practices. A systematic scoping review was conducted, including peer-reviewed papers on genomics that discussed cultural, ethical, legal, or social matters relevant to Indigenous Peoples globally; available in full-text and in English. Inductive content analysis using NVivo 12 Plus was undertaken to identify CELS considerations and develop content categories, with papers coded to multiple categories where relevant. As of May 2024, 186 papers were identified for inclusion: n = 70 (38%) included cultural, n = 91 (49%) ethical, n = 49 (26%) legal, and n = 125 (67%) social considerations. Cultural considerations included cultural harm, significance of blood, and the need to integrate Indigenous knowledges. Ethical considerations included consent, data access and sharing, privacy, and confidentiality. Legal considerations included laws protecting Indigenous interests, control of genomic samples and data, biovalue and DNA as a commodity, genetic discrimination, and the use of genomic data in constructing and defining racial identity. Social considerations included collective decision-making, genetic determinism, and stigmatisation, and the importance of contextualising findings within wider social determinants of health frameworks. Overall, researchers need to understand, navigate, and address CELS considerations of relevance to Indigenous Peoples to build trust, promote inclusion, and support equitable benefit-sharing in genomics research.

Complex genomic technologies are increasingly utilised in research. However, human research ethics committee (HREC) members lack confidence reviewing genomics applications. This study developed and evaluated the acceptability and utility of an online educational resource on genomics and the ethical considerations for HREC members. Resource development and evaluation was theoretically informed. Qualitative semi-structured interviews with HREC members and subject experts were transcribed and deductively analysed. Participants (n = 29) found the content to be comprehensive, appropriately pitched, and optimal in quantity. Most reported the resource was easy to access and intuitive to navigate. HREC members reported improved confidence in reviewing genomics ethics applications and intentions to re-access as needed. Most (n = 28/29) would recommend to other HREC members, and some volunteered that they would recommend to researchers. Suggested navigation improvements included a progress bar, active learning elements, and a more clearly visible menu. Content suggestions included more detail on data storage/management and considerations when engaging diverse communities. This is the first study to develop and evaluate a genomic educational resource tailored to ethics committees. Following refinement and quantitative evaluation, it is hoped that this resource will increase HREC member confidence in reviewing genomics ethics applications and the quality of researchers’ submissions.

The importance of generating and sharing human genomic data for human health is widely recognised. Whilst several international high-level frameworks provide guidance, local governance challenges and concerns of previously under-represented populations mean that the full potential of genomic data sharing remains unrealised. This commentary introduces the LINEAGE study, an Australian research project that is building an empirically-informed and normatively robust governance framework for the generation and sharing of genomic data.

BACKGROUND AND AIM:Historical genetic sequencing of specific cancer variants has been superseded by comprehensive genomic profiling (CGP). This narrative review aimed to capture current international evidence on the clinical utility of CGP for cancer prevention, detection and treatment. MATERIALS AND METHODS:A literature search of three databases was performed to identify key studies on the frequency of germline and somatic variants in adult cancers and the extent to which they inform diagnosis, management and outcome. Findings were inductively mapped and narratively synthesised. RESULTS:Consolidated results from 95 original research papers showed that pathogenic germline (familial) variants are found in ~10% of adults with cancer, of whom 53%-61% are offered germline genotype-directed treatment. Importantly, 50% of germline carriers would not have satisfied the eligibility criteria for genetic testing and/or reported a negative family history. Actionable somatic variants occur in 27%-88% of cases, which markedly impact the diagnosis for cancers of unknown primary. Matched treatments were identified for 31%-48% of cancer patients, of whom 33%-45% received it. Response and survival rates were better in individuals receiving matched therapies compared to those receiving standard of care or unmatched therapies. Trials show that circulating tumour DNA (ctDNA) assays are feasible and sensitive. The relatively non-invasive ctDNA sample collection is appealing for cancers with inaccessible or unknown primary sites, and serial monitoring of residual disease and/or treatment response. CONCLUSIONS:As matched therapies are underutilised due to declining patient condition and fewer prior therapies predicting better response rates, research is needed on the suitability of cancer genomic profiling as a frontline test.

A central challenge in vaccination policy, and public health generally, is the tension that arises between the interests of the community and the interests of individuals. Over the previous two centuries, a range of legislative interventions have been used in efforts to improve vaccination rates, with varying degrees of success in navigating that central challenge. Here, we use a historical and sociolegal approach to characterise and evaluate vaccination laws in Australia from 1853 to the present. In doing so, we provide both a descriptive account of how vaccination laws have operated in Australia and a normative argument for what the role of law should be in relation to vaccination. This study highlights that the role of law in creating accessible, trustworthy, and equitable systems for vaccination is more influential in achieving public health goals than coercive approaches.

This position statement provides guidelines for health professionals who are considering online or direct-to-consumer genetic testing for their patients. It presents the major issues around online and direct-to-consumer (DTC) testing including how it is accessed, motivations for accessing testing and how to return these results. Online or DTC recommendations include: (1) DTC testing should only be done by individuals/consumers who are well informed, aware of the risks, benefits and limitations of testing, and able to consent for their DNA to be collected, analyzed and potentially stored. Where possible, individuals/consumers should also be aware of the alternative option of undertaking testing through healthcare professionals in a clinical context, and the benefits of this. (2) Decisions about having a child tested should be based on peer-reviewed, published evidence. Genomics testing for children should be within a clinical context where parents are informed, have access to clinical support and professional genetic counseling about this decision, as well as support for the range of results received. (3) Parents considering direct-to-consumer testing on their newborn are counselled, or given information, to encourage them to have standard government funded newborn bloodspot screening testing on their newborn. (4) When choosing an online genomic test, preference should be given to tests undertaken in accredited laboratories offering tests accredited with the Therapeutic Goods Administration. (5) Results obtained through methods other than direct analysis from a laboratory accredited to perform genomic testing to inform human health and wellbeing should be interpreted with caution. The HGSA recommends that such results must be confirmed in an accredited diagnostic laboratory prior to relying on them to inform options for treatment, surveillance or risk reduction, or before undertaking cascade testing in family members. (6) When individuals are concerned about their health, they should consult an appropriate healthcare professional to decide whether an online genomic test is appropriate and discuss how useful test results could be to make health-related decisions.

As with other countries, Australia is seeking to make efficient use of genomic data for use in research, clinical medicine and population health. However, to enable cross jurisdictional consistency in the management of and access to data, it will first need to establish a national framework for governing genomic data. To this end, ethical, legal and social issues are often discussed. However, the literature offers little evidence-based support for such a framework. To address this literature gap, we systematically reviewed two databases (Scopus and PubMed) for research articles that discussed issues and opportunities for enacting genomic data governance frameworks in the domains of research, genomic medicine and public (population) health in the Australian context. Thirty-one relevant articles were included and were analysed using inductive content analysis. Our findings identified that opportunities for implementing a national genomic data governance framework concerned defining roles for patients in data governance, data management processes and increasing the public acceptance of genomic data use in healthcare and research. Additionally, they highlight differences in the opportunities and priorities for clinical and research genomics that hinder further advancement of data governance. Our synthesis of the current literature on genomic data governance suggests that the current focus on individual consent as the primary mechanism for protecting data subjects and different priorities in clinical and research governance need to be addressed. Given the significance of the role of consent procedures and differences in clinical and research data in generating a data governance framework, our findings hence reveal a critical gap in the research literature. Advancing a national genomic data governance framework will require greater consensus and clarity regarding the application of ethical principles across jurisdictions and institutions.

This research identifies the circumstances in which Human Research Ethics Committees (HRECs) are trusted by Australians to approve the use of genomic data – without express consent – and considers the impact of genomic data sharing settings, and respondent attributes, on public trust. Survey results ( N = 3013) show some circumstances are more conducive to public trust than others, with waivers endorsed when future research is beneficial and when privacy is protected, but receiving less support in other instances. Still, results imply attitudes are influenced by more than these specific circumstances, with different data sharing settings, and participant attributes, affecting views. Ultimately, this research raises questions and concerns in relation to the criteria HRECs use when authorising waivers of consent in Australia.

Genomics is increasingly being incorporated into models of care for cancer. Understanding the ethical, legal, and social issues (ELSI) in this domain is important for successful and equitable implementation. We aimed to identify ELSI scholarship specific to cancer control and genomics. To do this, we undertook a scoping literature review and narrative synthesis, identifying 46 articles that met inclusion criteria. Eighteen ELSI themes were developed, including (1) equity of access, which included structural barriers to testing and research, access to preventive and follow-up care, and engagement with health systems; (2) family considerations, such as an ethical obligation to disseminate relevant genomic information to at-risk family members; (3) legal considerations, including privacy and confidentiality, genetic discrimination, and the prospective duty to reclassify variants; and (4) optimizing consent processes in clinical care and research. Gaps in the literature were identified with respect to equity for people living in rural or remote areas, and how to provide ethical care within culturally, linguistically, and ethnically diverse communities, including First Nations peoples. Our findings suggest a need for a multidisciplinary approach to examining ELSI in cancer genomics beyond initial test indication and within the broader context of the mainstreaming of genomics in health care.

This article traces the history of Human Research Ethics Committees (‘HRECs’) in Australia, noting their development from peer review bodies to a model more akin to quasi-tribunals. We illustrate this shift through the role of HRECs in authorising waivers of consent for health and medical research: a responsibility that is codified under federal and state privacy laws and national research ethics guidelines. Despite the increasingly rule-based nature of HREC decisions, the manner in which HRECs operate has barely changed from their peer review roots. In particular, very limited substantive oversight or appeals mechanisms apply to HREC decisions. Given the stakes involved in authorising – or refusing to authorise – waivers of consent, this may lead to a loss of trust in, and trustworthiness of, the Australian research enterprise. We suggest looking to the model in the United Kingdom and the Republic of Ireland, which delineates the ethical acceptability of a waiver of consent from its legal compliance.

Click to increase image sizeClick to decrease image sizeThis article refers to:IRBs and the Protection-Inclusion Dilemma: Finding a Balance Additional informationFundingThis work is supported by National Health and Medical Research Council Synergy [Grant 2011277], Medical Research Future Fund Genomics Health Futures Mission [Grant 2016124], and Australian Research Council Discovery Early Career Research Award DE220101048.

Understanding public attitudes to genomic data sharing is widely seen as key in shaping effective governance. However, empirical research in this area often fails to capture the contextual nuances of diverse sharing practices and regulatory concerns encountered in real-world genomic data sharing. This study aimed to investigate factors affecting public attitudes to data sharing through responses to diverse genomic data sharing scenarios. A set of seven empirically validated genomic data sharing scenarios reflecting a range of current practices in Australia was used in an open-ended survey of a diverse sample of the Australian public (n = 243). Qualitative responses were obtained for each of the scenarios. Respondents were each allocated one scenario and asked five questions on: whether (and why/not) they would share data; what sharing would depend on; benefits and risks of sharing; risks they were willing to accept if sharing was certain to result in benefits; and what could increase their comfort about sharing and any potential risk. A thematic analysis was used to examine responses, coded and validated by two blinded coders. Participants indicated an overall high willingness to share genomic information, although this willingness varied considerably between different scenarios. A strong perception of benefits was reported as the foremost explanation for willingness to share across all scenarios. The high degree of convergence in the perception of benefits and the types of benefits identified by participants across all the scenarios suggests that the differentiation in intention to share may lie in perceptions of risk, which showed distinct patterns within and between the different scenarios. Some concerns were shared strongly across all scenarios, particularly benefit sharing, future use, and privacy. Qualitative responses provide insight into popular assumptions regarding existing protections, conceptions of privacy, and which trade-offs are generally acceptable. Our results indicate that public attitudes and concerns are heterogeneous and influenced by the context in which sharing takes place. The convergence of key themes such as benefits and future uses point to core concerns that must be centred in regulatory responses to genomic data sharing.

In Vavřička v Czech Republic, the European Court of Human Rights held that the Czech Republic's childhood vaccination policy did not contravene the Article 8 right to private life. This note presents a rhetorical and contextual analysis of the Court's engagement with questions of expertise. The majority's application of a wide margin of appreciation avoided grappling with the details of scientific and medical authority, as much as the political challenges raised by the application. We conclude by considering the wider context and limits of rights‐based approaches to global public health.

Journal Article Margaret Brazier, Law and Healing: A History of a Stormy Marriage Get access Margaret Brazier, Law and Healing: A History of a Stormy Marriage, Manchester University Press, 2023, hardback, 253 pp, £85, ISBN 9781526129185. Rebekah McWhirter Rebekah McWhirter School of Medicine, Deakin University, Australia rebekah.mcwhirter@deakin.edu.au https://orcid.org/0000-0002-9409-8074 Search for other works by this author on: Oxford Academic PubMed Google Scholar Medical Law Review, fwad042, https://doi.org/10.1093/medlaw/fwad042 Published: 23 December 2023

There is an increasing demand for the return of raw genomic data by research participants in translational genomic research. This article discusses the scope and application of privacy and freedom of information legislative provisions in Australia. Whether there is a right to access a copy of such data under Australian privacy legislation is contingent on whether raw genomic data can identify an individual and this article explores the opportunities for genomic data to be linked to individuals. We conclude that despite the complexity and overlapping nature of privacy laws in Australia, there is a clear right on the part of research participants to access their raw genomic data.

Decision-making by Human Research Ethics Committees ('HRECs') is subject to significant criticisms, many of which relate to the extent to which decisions are made within their authority or to the provision of reasons for such decisions. This suggests that judicial review of decisions made by HRECs may contribute to improving adherence to administra-tive law norms and the quality of decision-making processes. This article assesses this proposition by examining current opportunities for review and then assessing the extent to which expanding the role of judicial review might better hold HRECs to account. It argues that only some types of HREC decisions are currently open to judicial review, and that the purported benefits of enhanced decision-making processes arising from judicial review are less than the risks of impairment to efficient administration. Alternative mechanisms are suggested. Decisions that are neither clearly within or outside the scope of judicial review provide useful case studies for interrogating both the purpose of judicial review and the extent to which it achieves its aims.

Hawe et al. raise concerns about Human Research Ethics Committees (HRECs) taking a risk-averse and litigation-sensitive approach to ethical review of research proposals. HRECs are tasked with reviewing proposals for compliance with the National Statement on Ethical Conduct in Human Research for the purpose of promoting the welfare of participants. While these guidelines intentionally include a significant degree of discretion in HREC decision making, there is also evidence that HRECs sometimes request changes that go beyond the guidance provided by the National Statement. When HRECs request changes outside their remit, inconsistencies between individual HRECs become more common, contributing to delays in ethical review and reducing the quality of HREC decision making. Improvements to the HREC regulatory system are needed to promote transparency and accountability.