全球基因组计划的演进格局：发现与差异

The Evolving Global Landscapeof Genomic Initiatives Discovery and Disparity TOBY HOUSE, Analyst, EMEA Thought Leadership, IQVIARICARDA GAENTZSCH, Principal, Head of Genomics & Precision Medicine EMEA, IQVIASARAH RICKWOOD, Vice President, EMEA Thought Leadership, IQVIA Table of contents Introduction1The evolving genomiclandscape2Genomic research and sequencing costevolution2The COVID-19 pandemic3The omics revolution4Characterising genomicinitiatives5Global overview of initiatives5Regional developments6Landmark initiatives7Genomic data types9Cohort size reporting and progress10Disease area focus11Patient linked data12The application of genomicdata13Drug development13Pharmacogenomics13Personalised medicine14Global health14Lifestyle and wellness15Global data governance andchallenges16Data governance frameworks16Funding challenges17Competition and nationalism18Ethical considerations18Future perspectives andconclusions20Methodology discussion22References23About the authors27Acknowledgements27 Introduction The global landscape of initiatives dedicated to generating and aggregatinghuman genomic data is both highly dynamic and diverse. As sequencingcosts continue to fall and research advances accelerate, these initiatives arepoised to play an increasingly vital role in the advancement of human health.However, most existing reports only offer a single snapshot in time of thislandscape. Breaking new ground, IQVIA has comprehensively updated aproprietary database cataloguing these genomic initiatives, using publiclyavailable information. The insights and trends presented in this paper offerstakeholders an overview of the current genomic landscape of 257 activeinitiatives, highlighting significant progress and developments since 2020.Amid shifting economic and political environments, stakeholders can evaluatethe value and applications of genomic initiatives in furthering medical researchand human data science. This paper re-examines the global landscape ofgenomic initiatives, providing an update to theprevious IQVIA Genomic Initiatives Database in 2020.1All genomic initiatives and databases were identifiedand catalogued using publicly available information.These initiatives were segmented by several keyparameters such as geographic origin, funding type,genomic data collected, cohort size and patient linkeddata. To reflect research developments over the last5years, parameters have also been updated to recordadditional forms of omic data, extending to fields suchas proteomics, metabolomics and transcriptomics. initiatives, this paper investigates some of the widerchallenges impacting the field of genomics, such asfunding pressures and ethical considerations, and theirassociated implications upon genomic initiatives inyears to come. By providing stakeholders with a clear overviewof progress and developments in this pioneering,fast-moving field, this landscape of global genomicinitiatives offers substantial added value. It identifieskey trends, opportunities and disparities, in additionto contextualising this landscape within the globaleconomic and political environment. It is hoped thatthis paper will further serve as a benchmarking toolwith which stakeholders can evaluate progress ofexisting initiatives or plan the creation of new ones.Ultimately, this paper seeks to promote genomicknowledge sharing, collaboration, transparency andthe equitable advancement of genomic medicine andhealthcare worldwide. Key applications of genomic data are also explored,spanning drug development, personalised medicine,pharmacogenomics, global health, as well as lifestyleand wellness. Specific examples from the databaseare highlighted to illustrate how existing initiativesare contributing to these applications and thebroader advancement of human health. To furthercontextualise the global landscape of genomic Genomic research and sequencingcostevolution The evolvinggenomiclandscape Fundamentally, a genome refers to the completeset of genetic material in an organism, including allsequences of DNA. The human genome is comprised ofapproximately 3 billion base pairs and 20,000 protein-coding genes, which together constitute the blueprintof human life.4Sequencing technologies allow us tostudy these genetic sequences, revealing informationabout physical and intrinsic traits, susceptibility todisease, physiology, and evolution. In 2001, the notion that sequencing an entiregenome could one day cost less than a smartphonewould have seemed implausible. At that time, thecost of sequencing a single human genome wasapproximately $95 million,2thus confining suchendeavours to large-scale, government-fundedresearch initiatives. Today, the cost has plummeted toas low as $100,3marking one of the most significantreductions in cost across any scientific discipline. While early sequencing techniques were limited tothe study of short sections of DNA, the transition tonext-generation sequencing technologies in 2008revolutionised genomics by dramatical