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. 2022 May 24;13:865799. doi: 10.3389/fgene.2022.865799

TABLE 1.

Information about population within countries and genomics initiative, and aims stated by the national genomics initiatives in literature.

Country Population size country a Initiative or Strategy Population included in initiative (%) Participants Aims and goals reported by the initiative
Countries included in the literature study and semi-structured interviews:
1.United Kingdom b >67 MM 100,000 Genomes 0.14% Patients, via NHS patients and their families “Make genomics part of routine healthcare by working closely with the NHS to integrate whole genome sequencing
Enhance genomic healthcare research by creating the largest genomic healthcare data resource in the world
Uncover answers for participants both now and in the future through genomic-level analysis of conditions” (Genomics England, 2022)
Genome UK 7% Different types of patients (e.g., cancer, rare and common diseases) and healthy citizens “Our vision is to create the most advanced genomic healthcare ecosystem in the world, where government, the NHS, research and technology communities work together to embed the latest advances in patient care
Our goal is that patients in the UK will benefit from world-first advances in genomic healthcare through globally leading collaborations between the government, NHS and researchers, building on already successful programmes such as the 100,000 Genomes Project, delivered by NHS England and Genomics England, and UK Biobank.“ (Government UK, 2020)
2. United States c >330 MM All of Us 0.30% Citizens “The All of Us Research Program is a historic effort to collect and study data from one million or more people living in the United States. The goal of the program is better health for all of us.” (National Institutes of Health, 2022)
3. Denmark d >5 MM National strategy for personalized medicine—Danish National Genome Centre 1% Patients, recruited in hospital upon suspicion of hereditary disorder “Clear diagnosis
Targeted treatment
Strengthened research” (Danish Ministry of Health, 2017; Danish Ministry of Health, 2021)
4. Estonia e >1.3 MM Estonian Genome Project 15% Citizens “It is the aim of the Estonian Genome Project to establish a database which compiles phenotype and genotype data of a large part of the Estonian population. […] Additionally, the project will improve Estonian’s international competitiveness in high technology and have a strong educational effect on the population.” (Metspalu et al., 2004)
5. Finland f >5.5 MM FinnGen 7% Citizens “Project aims to improve human health through genetic research, and ultimately identify new therapeutic targets and diagnostics for treating numerous diseases.” (FinnGen, 2022b)
Genomics to Healthcare 2% Citizens “Genomics to Healthcare (P6), coordinated by the Finnish Institute for Health and Welfare (THL), is a large-scale national initiative aiming to prepare the Finnish health care system for the clinical utilization of genetic risk information.” (Finnish Institute for Health and Welfare, 2022)
Countries included in the literature study only:
6. Qatar g >2.5 MM Qatar Genome Programme 0.97% Citizens “Qatar Genome Program (QGP) is a national population-based research project that aims to study the genetic makeup of the Qatari population and generate large databases with the aim of introducing precision medicine and personalized healthcare.” (Qatar Genome, 2022)
7. Saudi Arabia h >32 MM Saudi Human Genome Program 0.31% Citizens “This program aims at reducing and preventing genetic diseases via implementing reliable screening and detection methods, and creating the physical and legislative infrastructure for development of personalized medicine. This is a substantial medical leap aimed at detecting the genes responsible for genetic diseases in the Kingdom.” (Saudi Human Genome Program, 2022)
8. Germany i >83 MM genomDE NM NM “The genomDE strategy aims to give all patients access to these benefits over the long term. Along the way, ethical, regulatory and safety questions must first be clarified.” (Federal Ministry of Health, 2022)
9. Belgium j >11 MM Belgian Medical Genomic Initiative (BeMGI) NM NM “The aim of the BeMGI project is to
(i) Understand the biology of disease by exploiting the most advanced genomic tools
(ii) Predict clinical outcome from genomic information and fulfil a pilot role towards concerted integration of genomic information in clinical care in Belgium
(iii) Prepare the next generation of genomics researchers, informing medical practitioners, and conducting public outreach.” (Department of Economy Science & Innovation, 2022)
10. Taiwan k >2 MM G2020 Population Genomics Pilot 2% Patients with rare diseases or cancer “Pilot effort will sequence 10,000 genomes by end of 2020, with the goal of embedding genome sequencing in the health system by 2025.” (National Health Research Institutes Communications, 2019)
11. Iceland l >365 K deCODE 32% Citizens “Headquartered in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using our unique expertise and population resources, deCODE has discovered key genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer.” (deCODE genetics, 2022)
a

Numbers retrieved from World Data Bank. % Calculated percentage of population aimed to include. K, thousand; MM, million; NM, not mentioned; NHS, National Health Service; NIH, National Institutes of Health. Participants were labeled as “citizens” when called “general public/population,” “individuals,” “citizens,” or when no specifics were mentioned about the included population.

b

Sources United Kingdom: (Government UK, 2020; Genomics England, 2022).

c

Sources United States: (National Institutes of Health, 2022).

l

Sources Iceland: (deCODE genetics, 2022).