Wellcome Connecting Science

Artificial intelligence (AI) tools and techniques are undoubtedly being used in bioinformatics education, reflecting broader trends in education. However, many instructors and learners may be unaware of the full scope of potential uses for these tools within bioinformatics education, as well as effective practices for using them. Building on discussions held at the 6th Global Bioinformatics Education Summit, this perspective article provides insights about ways that AI might be used to generate or adapt instructional content, provide personalized help for learners, and automate assessment and grading. Additionally, we highlight AI skills that are important for bioinformatics learners to develop in order to effectively use AI as a bioinformatics learning tool. We highlight currently available tools in the quickly evolving AI landscape and suggest ways that instructors or learners might use such tools. Furthermore, we discuss key considerations and challenges associated with integrating AI into bioinformatics education, including ethical implications, potential biases, and the need to critically evaluate AI-generated content. Finally, we highlight the need for further research to better understand how AI tools are being used in practice and empower their effective and responsible use in bioinformatics education.

BackgroundThe clinical utility of whole genome sequencing (WGS) in paediatric cancer has been demonstrated in recent years. WGS has been routinely available in the National Health Service (NHS) England for all children with cancer in England since 2021, but its uptake has been variable geographically. To explore the underlying barriers to routine use of WGS in this population across England and more widely in the United Kingdom (UK) and the Republic of Ireland (ROI), a one-day workshop was held in Cambridge, United Kingdom in October 2022.MethodsFollowing a series of talks, delegates participated in open, round-table discussions to outline local and broader challenges limiting routine WGS for diagnostic work-up for children with cancer in their Principal Treatment Centres (PTCs) and Genomic Laboratory Hubs (GLHs). Within smaller groups, delegates answered structured questions regarding clinical capability, education and training needs, and workforce competence and requirements. Data was recorded, centrally collated, and analysed following the event using thematic analysis.ResultsSixty participants attended the workshop with broad representation from the 20 PTCs across the UK and ROI and the seven GLHs in England. All healthcare professionals involved in the WGS pathway were represented, including paediatric oncologists, clinical geneticists, clinical scientists, and histopathologists. The main themes highlighted by the group in ensuring equitable access to WGS identified were: lack of knowledge equity between NHS trusts, with a perception of WGS being for research only; and perception of lack of financial support for the clinical process surrounding WGS, including lack of time to take informed consent from patients. The latter also included limited trained staff available for data interpretation, affecting the turnaround time for reporting. Finally, the need for an integrated digital pathway to order, track, and return data to clinicians was highlighted.ConclusionAt the workshop, the general motivation for including WGS in the diagnostic work up for children with cancer was high throughout the UK, however a perceived lack of resources and education opportunities limit the widespread use of this commissioned assay. This workshop has led to some recommendations to increase access to WGS in this population in England and more widely in the devolved national of the UK and the ROI.

ABSTRACT Drawing on three years of ethnographic engagement with the rare disease community in the United Kingdom and Europe, this article explores the experiences of families who seek and (sometimes) receive a genomic diagnosis. I trace how families learn to enact unexplained symptoms and common disabilities as rare, genetic disorders, and how they coordinate genomic and non-genomic ways of “doing” disease within and beyond the clinic. These experiences shed light on the socio-material processes through which genomic variants become “diseases” (or fail to do so), and on the implications for those whose lives have become entangled with the genomic agenda.

Abstract Discussions of the development and governance of data-driven systems have, of late, come to revolve around questions of trust and trustworthiness. However, the connections between them remain relatively understudied and, more importantly, the conditions under which the latter quality of trustworthiness might reliably lead to the placing of ‘well-directed’ trust. In this paper, we argue that this challenge for the creation of ‘rich’ trustworthiness, which we term the Trustworthiness Recognition Problem, can usefully be approached as a problem of effective signalling, and suggest that its resolution can be informed by a multidisciplinary approach that relies on insights from economics and behavioural ecology. We suggest, overall, that the domain specificity inherent to the signalling theory paradigm offers an effective solution to the TRP, which we believe will be foundational to whether and how rapidly improving technologies are integrated in the healthcare space. We suggest that solving the TRP will not be possible without taking an interdisciplinary approach and suggest further avenues of inquiry that we believe will be fruitful.

This article explores how the meanings and values of diagnosis are being reconfigured at the interface between technological innovation and imaginaries of precision medicine. From genome sequencing to biological and digital 'markers' of disease, technological innovation occupies an increasingly central space in the way we imagine future health and illness. These imaginaries are usually centred on the promise of faster, more precise and personalised diagnosis, and the associated hope that if detected early enough disease can be effectively treated and prevented. Underpinning and reproduced through these narratives of the future is a re-conceptualisation of diagnostic processes and categories around the anticipation of future risk, as noted by recent theoretical developments in the sociology of diagnosis and related disciplines. Adding to this literature, in this article we explore what makes these emerging diagnostic arrangements valuable, to whom and how. Drawing on interviews with experts involved in the development of digital biomarkers for Alzheimer's disease, we trace how multiple and at times conflicting applications of the tools, and the value(s) attached to them, are coproduced. We thus ask what possibilities are pursued, or foreclosed, through the work of imagining the future of diagnosis.

This article reports on the findings of an international workshop organised by the UK-France Genomics and Ethics Network (UK-FR GENE) in 2021. They focus specifically on how collection, storage and sharing of genomic data may pose challenges to established principles and values such as trust, confidentiality, and privacy in countries that have implemented, or are about to implement, large-scale national genomic initiatives. These challenges impact the relationships between patients/citizens and medicine/science, and on each party’s rights and duties towards each other. Our geographic scope of comparative analysis includes initiatives underway in England (Genomics England), France (Plan France Médecine Génomique) and Germany (German Human Genome-Phenome Archive). We discuss existing as well as future challenges raised by large-scale health data collection and management in each country. We conclude that the prospects of improving individualised patient healthcare as well as contributing to the scientific and research prosperity of any given nation engaged in health data collection, storage and processing are undeniable. However, we also attempt to demonstrate that biomedical data requires careful management, and transparent and accountable governance structures that are clearly communicated to patients/participants and citizens. Furthermore, when third parties partake as stakeholders, transparent consent protocols relative to data access and use come centre stage, and patient benefits must clearly outweigh commercial interests. Finally, any cross-border data transfer needs to be carefully managed to address incoherencies between regional, national, and supranational regulations and recommendations.

Genomic science is increasingly central to the provision of health care. Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers. Engagement and involvement of diverse stakeholders can support alignment of societal and scientific interests, understandings and perspectives and promises better science and fairer outcomes. In this context we argue for F.A.I.R.E.R. data and data use that is Findable, Accessible, Interoperable, Reproducible, Equitable and Responsible. Yet there is a paucity of international guidance on how to engage publics, patients and participants in genomics. To support meaningful and effective engagement and involvement we developed an Engagement Framework for involving and engaging participants, patients and publics in genomics research and health implementation. The Engagement Framework is intended to support all those working in genomics research, medicine, and healthcare to deliberatively consider approaches to participant, patient and public engagement and involvement in their work. Through a series of questions, the Engagement Framework prompts new ways of thinking about the aims and purposes of engagement, and support reflection on the strengths, limitations, likely outcomes and impacts of choosing different approaches to engagement. To guide genomics activities, we describe four themes and associated questions for deliberative reflection: (i) fairness; (ii) context; (iii) heterogeneity, and (iv) recognising tensions and conflict. The four key components in the Engagement provide a framework to assist those involved in genomics to reflect on decisions they make for their initiatives, including the strategies selected, the participant, patient and public stakeholders engaged, and the anticipated goals. The Engagement Framework is one step in an actively evolving process of building genomics research and implementation cultures which foster responsible leadership and are attentive to objectives which increase equality, diversity and inclusion in participation and outcomes.