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Four genome-wide associated loci are currently known for malaria susceptibility. Here, the authors expand on earlier work by combining data from 11 malaria-endemic countries and additional population sequencing informing an African-enriched imputation reference panel, with findings including a previously unreported association on chromosome 6.

1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

A multi-centre genome-wide association study of severe malaria in African children uncovers a new resistance locus close to a cluster of genes encoding glycophorins, which are receptors used by the malaria-causing parasite to invade red blood cells.

Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

Large national genomic programmes have been created in many countries, including France, England and Germany, to advance the realisation of the potential genomic medicine holds to significantly contribute to society by improving health, and driving science, innovation and the economy. To reach this ambition, these programmes collect, manage and analyse big genomic datasets. While there is much talk about the promises, and hence the importance of genomics, there is little in-depth analysis of the actual contribution or value—here understood as benefits—of genomics for society at large. To explore the issue of the value of large-scale genomic programmes for society, UK-FR-D+ GENE held an international workshop focusing on a variety of levels—societal, economic, clinical, scientific, and population-wide level—at which such benefits might be observed. First, the broader societal implications of large genome programmes and their impact for public trust were discussed. Second, the meaning of fair and just allocation of public resources, based on considerations of the economic costs and benefits of genomic innovations, was examined. Third, the benefits of these innovations for stakeholders (clinicians, patients, and families) at the clinical level were investigated. Fourth, the scope and limitations of genomics at the scientific level were discussed. Finally, the potential of genomics to improve health at the population level was explored. Providing an insight into the benefits of large genomic programmes on various levels, the workshop concluded by defining several criteria that should be considered to ensure benefits for society when implementing large genomic programmes.

The Malaria Genomic Epidemiology Network reports a large multicenter association study for severe malaria due to Plasmodium falciparum in 11,890 cases and 17,441 controls from 12 locations in Africa, Asia and Oceania. They examine 27 loci previously associated with severe malaria and replicate associations at the HBB, ABO, ATP2B4, G6PD and CD40LG loci, but they fail to replicate other previously reported associations.

This paper reports on the findings of an international workshop organised by the UK-France+ Genomics and Ethics Network (UK-FR + GENE) in 2022. The focus of the workshop were the ethical and social issues raised by public-private partnerships in the context of large-scale genomics initiatives in France, Germany, the United Kingdom and Israel, i.e. collaborations where commercial entities are given access to publicly held genomic data. While the public sector relies on partnerships with commercial entities to exploit the full potential of the data it holds, such collaborations may have an impact on the return of benefits to the public sector and on public trust, and subsequently challenge the social contract. The first part of this paper explores the ways in which the four countries examined respond to the challenges posed to the social contract, and what safeguards they put in place to secure public trust. The second part presents three approaches to address the challenges of private-public partnerships in secondary data use. In conclusion, this paper offers a set of minimum requirements for these partnerships within solidarity-based publicly funded healthcare systems. These include the necessity of public-private partnerships to (1) contribute to the public benefit and minimise harm produced by the use of publicly held data; (2) avoid prioritisation of commercial interests over robust governance structures to guarantee benefits to the public and protect donors, especially marginalised groups; (3) side-step the pitfalls of the rhetoric of solidarity and be transparent about the challenges to return the benefits to ‘all’.

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.