Determinants of severity in sickle cell disease.

Advances in technology have resulted in the ability to sequence entire human genomes as a routine, relatively inexpensive, investigation in healthcare. This offers many promises of personalising, stratifying, and targeting healthcare with an understanding of genetic susceptibility to particular diseases or conditions. However, research collections (databases, biobanks etc) that underpin these developments are significantly skewed towards populations of European ancestry meaning that our understanding of genetic susceptibility (or indeed of genetic protection to disease) is less good for many other populations in the world. Just as a dermatology text book skewed towards skin problems on white skin may be less useful to black populations, so genomic knowledge derived from one particular ancestry means it may be less useful to people with different ancestries. The need to diversify genomic data, to improve the evidence base for genomic medicine for all ancestries, is well recognised, but is more complex than simply increasing the collection of data from people from a range of ancestries. We reviewed the literature to understand the challenges of diversifying genomic data to identify key ethical, legal and social issues. Our findings were: 1.Many research practices are exclusionary and need to change. Examples include approaches to recruitment or data collection that do not consider the cultural setting in which potential participants are situated. Research also often lacks reflexivity about diversity on the part of researchers and research institutions. 2.Co-design is key to identifying and avoiding potential problems around data diversification. This requires an understanding of the concerns of underserved individuals and communities regarding exploitation and stigmatisation, as well as issues of data ownership and sovereignty. Without attention to group as well as individual concerns, participant engagement may become tokenistic which in turn risks exacerbating existing, as well as creating new, inequalities. 3.There are wider structural issues that influence researchers’ and participants’ attempts to generate diverse data. For example, (a) some researchers view data as neutral, but this ignores the social construction of data and technologies, and their tendencies to reflect societal inequalities. (b). Efforts to diversify data should be contextualised within the historical trajectory of structural racism and legacies of colonialism. (c) Classification and categorisation of populations have political consequences and need to be closely interrogated. These findings show that deliberation between researchers and participants, during all stages of research from planning and recruitment through to analysis, interpretation and dissemination is key to successful diversification. 

Ethical, Legal and Social Issues in Diversifying Genomic Data: Literature Review and Synthesis

This article aims to explore the ethical issues arising from attempts to diversify genomic data and include individuals from underserved groups in studies exploring the relationship between genomics and health. We employed a qualitative synthesis design, combining data from three sources: 1) a rapid review of empirical articles published between 2000 and 2022 with a primary or secondary focus on diversifying genomic data, or the inclusion of underserved groups and ethical issues arising from this, 2) an expert workshop and 3) a narrative review. Using these three sources we found that ethical issues are interconnected across structural factors and research practices. Structural issues include failing to engage with the politics of knowledge production, existing inequities, and their effects on how harms and benefits of genomics are distributed. Issues related to research practices include a lack of reflexivity, exploitative dynamics and the failure to prioritise meaningful co-production. Ethical issues arise from both the structure and the practice of research, which can inhibit researcher and participant opportunities to diversify data in an ethical way. Diverse data are not ethical in and of themselves, and without being attentive to the social, historical and political contexts that shape the lives of potential participants, endeavours to diversify genomic data run the risk of worsening existing inequities. Efforts to construct more representative genomic datasets need to develop ethical approaches that are situated within wider attempts to make the enterprise of genomics more equitable. 

pdf/review-the-ethical-challenges-of-diversifying-genomic-data-a-3s9fkcc7i6.pdf

Review: The ethical challenges of diversifying genomic data: A qualitative evidence synthesis — R0/PR2

pdf/author-comment-the-ethical-challenges-of-diversifying-47d2gdjb8d.pdf

Author comment: The ethical challenges of diversifying genomic data: A qualitative evidence synthesis — R1/PR6

pdf/decision-the-ethical-challenges-of-diversifying-genomic-data-4ion21v5gp.pdf

Decision: The ethical challenges of diversifying genomic data: A qualitative evidence synthesis — R0/PR5

Objectives To provide lay information about genetics and sickle cell disease (SCD) and to identify and address ethical issues concerning the Sickle Cell Disease Genomics of Africa Network covering autonomy and research decision-making, risk of SCD complications and organ damage, returning of genomic findings, biorepository, data sharing, and healthcare provision for patients with SCD. Design Focus groups using qualitative methods. Setting Six cities in Ghana, Nigeria and Tanzania within communities and secondary care. Participants Patients, parents/caregivers, healthcare professionals, community leaders and government healthcare representatives. Results Results from 112 participants revealed similar sensitivities and aspirations around genomic research, an inclination towards autonomous decision-making for research, concerns about biobanking, anonymity in data sharing, and a preference for receiving individual genomic results. Furthermore, inadequate healthcare for patients with SCD was emphasised. Conclusions Our findings revealed the eagerness of patients and parents/caregivers to participate in genomics research in Africa, with advice from community leaders and reassurance from health professionals and policy-makers, despite their apprehensions regarding healthcare systems.

https://bmjopen.bmj.com/content/bmjopen/11/7/e048208.full.pdf

Sickle Cell Disease Genomics of Africa (SickleGenAfrica) Network: ethical framework and initial qualitative findings from community engagement in Ghana, Nigeria and Tanzania.

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Sickle Cell Disease Genomics of Africa (SickleGenAfrica) Network: ethical framework and initial qualitative findings from community engagement in Ghana, Nigeria and Tanzania.