CARE-ing for Indigenous nonhuman genomic data - rethinking our approach.

Earlier this year, an international group of scientists published a paper in ScienceAdvances on the draft genome of the little bush moa (Anomalopteryx didiformis), one of about nine species of extinct flightless birds endemic to Aotearoa (New Zealand). The genome was sequenced from the ancient DNA of a "poorly provenanced" fossil bone acquired by the Royal Ontario Museum. It held important clues about the moa's evolutionary history and aspects of its biology.

Australian Attitudes Towards Waivers of Consent Within the Context of Genomic Data Sharing.

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.

Moving Genomics into the Clinic: Platforms for Implementing Clinical Genomic Data-Sharing in Ways That Address Ethical, Legal and Social Implications.

This section explores the challenges involved in translating genomic research into genomic medicine. A number of priorities have been identified in the Australian National Health Genomics Framework for addressing these challenges. Responsible collection, storage, use and management of genomic data is one of these priorities, and is the primary theme of this section. The recent release of Genomical, an Australian data-sharing platform, is used as a case study to illustrate the type of assistance that can be provided to the health care sector in addressing this priority. The section first describes the National Framework and other drivers involved in the move towards genomic medicine. The section then examines key ethical, legal and social factors at play in genomics, with particular focus on privacy and consent. Finally, the section examines how Genomical is being used to help ensure that the move towards genomic medicine is ethically, legally and socially sound and that it optimises advances in both genomic and information technology.

Genomic sequencing for newborn screening: current perspectives and challenges.

Traditional newborn screening (NBS) serves as a critical tool in identifying conditions that may impact a child's health from an early stage. Newborn sequencing (NBSeq), the comprehensive analysis of an infant's genome, holds immense promise for revolutionizing health care throughout the lifespan. NBSeq allows for early detection of genetic disease risk and precision personalized medicine. The rapid evolution of DNA sequencing technologies and increasing affordability have spurred numerous endeavors to explore the potential of whole-genome sequencing in newborn screening. However, this transformative potential cannot be realized without challenges. Ethical aspects must be carefully navigated to safeguard individual rights and maintain public trust. Moreover, genomic data interpretation poses complex challenges due to its amount, the presence of variants of uncertain significance, and the dynamic nature of our understanding of genetics. Implementation hurdles, including cost, infrastructure, and specialized expertise, also present barriers to the widespread adoption of NBSeq. Addressing these challenges requires collaboration among clinicians, researchers, policymakers, ethicists, and stakeholders across various sectors. Robust frameworks for informed consent, data protection, and governance are essential. Advances in bioinformatics, machine learning, and genomic interpretation are crucial for translation into actionable clinical insights. Scalability and improving downstream health care access are vital for equitability, particularly in underserved communities. By fostering interdisciplinary collaboration, advancing technology and infrastructure, and upholding ethical principles, we can unlock the full potential of NBSeq as a tool for precision medicine and pave the way toward a future where every child has the opportunity for a healthier, genomics-informed start to life.

Future-proofing genomic data and consent management: a comprehensive review of technology innovations.

Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases. Similarly, clinicians need efficient access to a patient's genome as well as population-representative historical records for evidence-based decisions. Both researchers and clinicians hence rely on participants to consent to the use of their genomic data, which in turn requires trust in the professional and ethical handling of this information. Here, we review existing and emerging solutions for secure and effective genomic information management, including storage, encryption, consent, and authorization that are needed to build participant trust. We discuss recent innovations in cloud computing, quantum-computing-proof encryption, and self-sovereign identity. These innovations can augment key developments from within the genomics community, notably GA4GH Passports and the Crypt4GH file container standard. We also explore how decentralized storage as well as the digital consenting process can offer culturally acceptable processes to encourage data contributions from ethnic minorities. We conclude that the individual and their right for self-determination needs to be put at the center of any genomics framework, because only on an individual level can the received benefits be accurately balanced against the risk of exposing private information.

Perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research.

BACKGROUND: Genetic research can yield information that is unrelated to the study's objectives but may be of clinical or personal interest to study participants. There is an emerging but controversial responsibility to return some genetic research results, however there is little evidence available about the views of genomic researchers and others on the African continent. METHODS: We conducted a continental survey to solicit perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research. RESULTS: A total of 110 persons participated in the survey with 51 complete and 59 incomplete surveys received. Data was summarised using descriptive analysis. Overall, our respondents believed that individual genetic research results that are clinically actionable should be returned to study participants apparently because participants have a right to know things about their health, and it might also be a means for research participation to be recognized. Nonetheless, there is a need for development of precise guidance on how to return individual genetic research findings in African genomics research. DISCUSSION: Participants should receive information that could promote a healthier lifestyle; only clinically actionable findings should be returned, and participants should receive all important information that is directly relevant to their health. Nevertheless, detailed guidelines should inform what ought to be returned. H3Africa guidelines stipulate that it is generally considered good practice for researchers to feedback general study results, but there is no consensus about whether individual genomic study results should also be fed back. The decision on what individual results to feedback, if any, is very challenging and the specific context is important to make an appropriate determination.

Understanding the Gap: A Cross-Sectional Survey of ELSI Scholars' Dissemination Practices and Translation Goals.

BACKGROUND: Researchers engaged in the study of the ethical, legal, and social implications (ELSI) of genetics and genomics are often publicly funded and intend their work to be in the public interest. These features of U.S. ELSI research create an imperative for these scholars to demonstrate the public utility of their work and the expectation that they engage in research that has potential to inform policy or practice outcomes. In support of the fulfillment of this "translational mandate," the Center for ELSI Resources and Analysis (CERA), funded by the National Human Genome Research Institute (NHGRI), aims to facilitate community-informed, ELSI research results synthesis and dissemination. However, little is known about how ELSI research scholars define the goals of translation and imagine the intended users of their research findings. METHODOLOGY: We distributed a Qualtrics survey to ELSI scholars that aimed to determine: (1) researchers' expectations for their research findings in relation to policy or practice outcomes, (2) the stakeholder groups researchers believe could benefit from their research findings, and (3) the methods researchers use to foster the uptake of their findings by those stakeholders. RESULTS: Most ELSI researchers surveyed thought there were stakeholders that could benefit from their research findings, including health care professionals, at-risk individuals, patients, and their family members, policy-makers, and researchers/scientists, and expected their research findings to inform the creation or revision of laws, policies, or practice guidelines. Most researchers planned to disseminate findings directly to relevant stakeholders, with fewer expecting dissemination support from research funders, universities, or other entities. CONCLUSION: The broad range of research topics, disciplines, and set of potential end users represented in ELSI reseach complicate the work of a knowledge broker. Nonetheless, the CERA can play an important role in disseminating ELSI results to relevant stakeholders. Further research should explore outreach mechanisms.

Addressing Barriers and Facilitators to African Americans' and Hispanics' Participation in Clinical and Genomic Research Through a Bioethical Sensitive Video.

Research advances on effective methods to prevent, diagnose, and treat cancer continue to emerge through clinical and genomic research. Most clinical trial and genomic research participants identify as White which limits the generalizability of research findings to non-White populations. With the development and access to technology, digital delivery of salient and tailored health education may provide innovative pathways to increase representation of African Americans (AA) and Hispanics in research. This project focused on the creation of a bioethical sensitive education video aimed at increasing participation in clinical trials and genomic research by bringing together experts from the community, healthcare, biomedical research, and public health. The goal was to utilize existing educational resources to create a tailored message to address AA/Hispanics' beliefs, values, and bioethical concerns related to participation in clinical and genomic research. Models of behavior change and communication theories were leveraged to frame key components of the message, which then informed the framework for the animated video. Development of the video consisted of six iterative phases: 1) writing sessions; 2) storyboarding; 3) animating; 4) screening/revisions; 5) acceptability testing; 6) finalization. The final animated video is approximately 5 min in length and covers several topics including the goal of clinical research, disparities in research participation, bioethical concerns, and genomic research regulations. Increasing AA and Hispanic participation in clinical and genomic research is imperative to achieving health equity. Tailored messages via short videos may assist in addressing the barriers and facilitators towards research participation and increase intentions to enroll in trials.

Towards ethical drug pricing: the European Orphan Genomic Therapies Fund.

An increasing number of novel genomic therapies are expected to become available for patients with rare or ultra-rare diseases. However, the primary obstacle to equal patient access to these orphan genomic therapies are currently very high prices charged by manufacturers in the context of limited healthcare budgets. Taking into account ethical pricing theories, the paper proposes the implementation of a pricing infrastructure covering all European member states, which has the potential to promote distributive justice while maintaining the attractiveness of genomic therapy development.

Queering genomics: How cisnormativity undermines genomic science.

Over the past century, genetics and genomics ("genomics") have contributed significantly to our knowledge of human biology and disease. Genomics has also bolstered inaccurate and harmful arguments about "essential" differences between socially defined groups. These purported differences have reinforced class hierarchies and justified the mistreatment of groups such as Black people, Indigenous people, and other people of color and/or people with disabilities. With this history in mind, we explore how genomics is used to reinforce scientifically unsound understandings of the relationship between two fundamental aspects of the human experience: sex and gender. We argue that imprecise, inaccurate practices for collecting data and conducting genomic research have adversely influenced genomic science and can contribute to the stigmatization of people whose sex and/or gender challenge binary expectations. The results have been to preclude transgender and intersex people from accessing high-quality, evidence-based healthcare and to hinder their participation in scientifically sound research. In this perspective, we use the lens of queer theory to render this situation more visible. First, we highlight the theoretical contributions queer theory can make to genomic science. Second, we examine practices in research and clinical genomics that exclude and stigmatize transgender and intersex people. Third, we highlight the ways that many current genomic research practices generate false conclusions that are used to support unjust public policies. We conclude by recommending ways that clinicians and researchers can-and should-harness the scientific, social, and cultural power of genomics to advance knowledge and improve lives across the spectra of sex and gender.

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics. Introduction will, however, also have ethical, economic, legal and (psycho)social (ELSI) implications that Genetic Health Professionals (GHPs) from laboratories should consider before possible implementation of systematic reanalysis. To get a first impression we performed a scoping literature review. Our findings show that for the vast majority of included articles ELSI aspects were not mentioned as such. However, often these issues were raised implicitly. In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. Some important aspects are not well explored yet. For example, our study shows GHPs see the values of systematic reanalysis but also experience barriers, often mentioned as being practical or financial only, but in fact also being ethical or psychosocial. Engagement of these GHPs in further research on ELSI aspects is important for sustainable implementation.