Table 1.
Precision medicine initiative and genome project worldwide (In progress or completed)
| Country (Name of project)Web Site | Goal |
|---|---|
| United Kingdom (UK Biobank cohort)https://www.ukbiobank.ac.uk/ | - Progress the prevention, diagnosis and treatment of a wide range of diseases such as cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia |
| United Kingdom (Genomics England)https://www.genomicsengland.co.uk/ | - Benefit patients in the UK healthcare system- Start the expansion genomics industry through making the personalized medicine in the UK- The project involves 100,000 WGS genomic, phenotypic, and other clinical data from 70,000 patients |
| United State (Million Veteran Program) (MVP)https://www.research.va.gov/mvp/ | - Uses genomics and other health data obtained through electronic medical records and follow-up surveys in about 600,000 military veterans aged 50–69 years |
| United State (Precision Medicine Initiative) (PMI)https://www.lexology.com/library/detail.aspx?g=4c4f54be-ce75-4301-bdc0-378f4127ed3c | - Expanding current efforts in cancer genomics and testing methods for prevention and treatment of cancers in a more precise way (short term)- All areas of health and health care will be considered, with special emphasis placed on the detection of prognostic biomarkers for type 2 diabetes (longer term)- Form a large research cohort of one million or more members who select to share many types of data (e.g., biomedical, behavioral, and lifestyle) to advance study |
| United State (Accelerating Medicines Partnership in Type 2 Diabetes)(AMP T2D)https://fnih.org/what-we-do/programs/amp-t2d-project | - Characterize the genetic variations in human genomic regions that have been putatively associated with T2D and conduct follow-up functional studies of particular genetic variants- Gather genomic and metagenomics data and to create an analytical engine that can be used to mine the genetic basis to diabetes and related traits, while safeguarding the confidentiality of the results- A database of sophisticated genotypic and phenotypic, and epigenomic information linked to clinical data from large cohorts of diabetes patients |
| Canada (Genome Canada)https://www.genomecanada.ca/ | - Advances genomics science and technology- Transform knowledge of the ethical, environmental, economic, legal and social challenges and opportunities into sound policies and practices that enhance the impact of genomics- Connect ideas and people across public and private sectors to find new uses for genomics- Invest in large-scale science and technology to fuel innovation- Translate discoveries into solutions across key sectors of national importance, including health, agriculture and agri-food, forestry, fisheries and aquaculture, the environment, energy and mining |
| Nordic Precision Medicine Initiative (NPMI)http://nordicprecisionmedicine.org/ | - Establish a Nordic framework for research into the genetics of human diseases, as well as into human evolution and population history- Accelerate discovery of disease susceptibility genes and genes protecting from disease through integrated analyses using multiple large-scale datasets and a range of experimental designs- Translate these findings so that they can be used for precision medicine to improve public health- Uphold and promote the highest legal, regulatory, social, and ethical standards- > 1 million Nordic citizens (genetic and other biomedical data) |
| Denmark (National Strategy for Personalized Medicine) (Per Med)https://www.healthcaredenmark.dk/news/listnews/new-national-strategy-for-personalized-medicine/ | - Establish a foundation for the development of better and more targeted healthcare for patients through the use of new technologies and new knowledge- Strengthen the ethical, legal and safety aspects related to the use of genetic information in healthcare- Establish a joint governance structure and strengthen collaborations across the country – both in healthcare and research- Establish a cooperation about a safe, joint and coherent technological infrastructure- Initiate relevant research and development projects |
| Norway (The Norwegian Strategy for Personalised Medicine in Healthcare)https://helsedirektoratet.no/ | - Better quality in the health service- Reduce the inequalities in health and living conditions- Promote factors that bring good health to the population |
| Iceland (deCODE)https://www.decode.com/ | - Discovered genetic risk factors for common- Create new means of diagnosing, treating and preventing disease- Genetic and phenotype database (some 500,000 individuals), which fuels genetics research and drug target validation for a wide range of diseases, including diabetes |
| Estonian (Estonian PersonalizedMedicine Pilot Project) (EPMPP)https://www.lero.ie/sites/default/files/2015_TR_06_Noel%20Carroll%20et%20al_Estonian-Personalised-Medicine-Pilot-Project-evaluation-methodology_Praxise-osa_l%C3%B5plik.pdf | - Promote and advance the development of genetic research and the implementation of genomic data into clinical practice to improve public health |
| Finland (FinnGen project)https://www.fimm.fi/en/research/grand-challenge-programmes/finnish-genomes-empowering-personalised-and-predictive-health/finngen | - Produce close to complete genome variant data from all the 500 000 participants using GWAS genotyping and imputation that is based on a population specific WGS imputation backbone- Link genomic data with digital health care data through a public–private partnership |
| Finland (Finland Genomes Strategy) (FGS)https://issuu.com/sitrafund/docs/finland_genomestrategy | - National Infrastructure (operational by 2020) |
| New National Initiative for Precision Medicine—Genomic Medicine Swedenhttps://ki.se/en/mmk/new-national-initiative-for-precision-medicine-genomic-medicine-sweden | - Prepare a plan for a new type of infrastructure within Swedish Healthcare that implements Precision Medicine at a national level- Build a new type of infrastructure that enables World-Leading Diagnostics and Precision Medicine in Sweden- The primary focus will be patients with rare inherited diseases and cancer, but will also expand into other areas such as in complex diseases and infectious diseases- The initiative will be organized as a broad scale collaborative project amongst different key societal stakeholders, the Swedish healthcare system, academia, SciLifeLab and industry |
| Sweden (Genomic Aggregation Project in Sweden) (GAPS)https://ki.se/en/meb/gaps | - Use genomics directly to improve public health- Aggregate existing individual SNP array data from Swedish subjects- Use the “UNICORN” framework to estimate national SNP frequencies, to develop a synthetic, Sweden-specific control group- Develop a fine-grained understanding of population history of Sweden- Explore capacity to impute new HLA haplotypes- Perform new GWAS of variables common to datasets- Improve genetic risk scores- Electronic medical record research (e.g., rare adverse drug reactions)- Create a Sweden-specific imputation reference, return imputed dosages to participants- Identify human “knockouts” for key genes- 160,000 genotyped samples phenotype data- Covering a wide range of diseases, including diabetes, and GMS is spearheading clinical genomics on a national scale |
| France (France Medicine Genome) (AVIESAN)https://aviesan.fr/fr/aviesan/accueil/toute-l-actualite/plan-francemedecine-genomique-2025 | - Coordinate the strategic analysis, scientific programming and operational implementation of life and health science research- Give a fresh boost to translational research by speeding up the transfer of fundamental knowledge to clinical application- Increase cross-disciplinarily by opening biology and medicine up to contributions from mathematics, physics, chemistry, information technology, engineering sciences, human and social sciences- Ensure that projects are consistent in thematic and infrastructure terms- Carry out clinical, economic and social promotion of knowledge, particularly by facilitating industrial partnerships- Define shared standpoints in terms of European research and international cooperation- Harmonize and cut down on red tape for laboratories so as to free up the creativity and excellence of teams- 235,000 WGS |
| Netherlands (Hartwig Medical Foundation) (HMF)https://www.hartwigmedicalfoundation.nl/en/ | - Enable systematic DNA analysis and to link genetic patient and treatment data on a national basis- Advance the progress of cancer research and its treatment, with a view to improve the care of future cancer patients- Gathers genetic and clinical data and makes it available for research purposes- The ultimate goal is that each partial receives a personalized treatment based on the DNA of the tumor- > 10,000 Cancer patients |
| Ireland (Genomic Medicine Ireland) (GMI)https://genomicsmed.ie/ | - 4,500 genomes |
| Switzerland (Swiss Personalized Health Network) (SPHN)https://www.sphn.ch/en.html | - Development of a nationally coordinated data infrastructure ensuring data interoperability of local and regional information systems with special emphasis on clinical data management systems enabling effective exchange of patient data (e.g. disease phenotypes)- Public health and healthy citizen data will also be integrated (long-term)- Overall, a national coordinated data infrastructure will optimize the use of health data for personalized health related research |
| Israel (Bench To Beside Project)https://www.weizmann.ac.il/WeizmannCompass/sections/features/the-bench-to-bedside-project | - 100,000 genome sequencing Israeli from selected patients |
| Japan (Japan's Initiative on Rare and Undiagnosed Diseases) (IRUD)https://www.amed.go.jp/en/program/IRUD/ | - It supported by four IRUD analysis centers which administer genetic tests, including WES or WGS- The clinical and genetic data gathered in each case is stored in a globally compatible patient-matching system, enabling data to be exchanged, upon consent, with domestic and overseas medical organizations in compliance with existing rules. As a result, similar cases can be compared with a broader pool of patients, increasing the chances of successful diagnoses- Synergizing with existing NGS capabilities and other infrastructure, the nationwide medical research consortium has successfully grown to accept more than 2000 undiagnosed registrants by December 2016 |
| Korea (Genome Technology to Business Translation Program)http://www.cdc.go.kr/CDC/eng/main.jsp | - Keep Korea secure from diseases threats by strengthening public health emergency response capacity- Keep Korean society safe and secure from diseases threats- Promote a survey and surveillance of acute and chronic disease as well as provide relevance information- Build an frastructure of science for leading the standardization for Korea’s biomedical sciences as well as for promoting research- Pursue integrated research for leading biomedical sciences |
| Thailand (Pharmacogenomics and Personalized Medicine)https://en.wikipedia.org/wiki/Estonian_Genome_Project | - Implement pharmacogenomics card to identify risk for top ten drugs with risk for Stevens Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN), integrated with nationwide pharmacovigilance program |
| Scotland (The Scottish genome partnership) (SGP)https://www.scottishgenomespartnership.org/ | - The research includes a collaboration with the Genomics England 100,000 Genomes Project- Recruitment to this study is through the four nationally designated NHS Scotland regional Clinical genetics units and genetic laboratories in Aberdeen, Dundee, Edinburgh and Glasgow. These sites provide genetic services across Scotland and are able to recruit participants to our study from all NHS Scotland board areas- Scottish sequencing for 100,000 genomes is complete |
| Saudi Arabia (Saudi Human Genome Project) (SHGP)https://www.saudigenomeprogram.org/en/ | - Sequencing over than 100,000 human genomic samples to identifying the genetic basis of severe and common genetic diseases in the Saudi population |
| Qatar (Qatar Genome Project) (QGP)https://qatargenome.org.qa/ | - Infrastructure, biobanking and clinical research- Over 10,000 WGS, launching the QGP research consortium, establishing genomic research funding schemes, leading benchmarking surveys for general public and health care professionals, drafting national policies and regulations governing genomic research, in addition to initiating graduate programs in genetic counseling and genomic medicine- Ramp-up sequencing and phenotyping efforts up to the mark of around 10 percent of the population, followed by the final and largest phase where large segments of the whole Qatari population will be sequenced |
| China (Chinese precision medicine initiative)https://www.scmp.com/tech/china-tech/article/2092362/chinas-precision-medicine-initiative-gets-lift-latest-genomics | - Build up the country’s credentials as a global leader in precision medicine- Millions of participants from the seven main regions of China to form a nationally representative cohort- Eight disease-specific cohorts (cardiovascular, cerebrovascular, respiratory, metabolic, neurological, psychosomatic, immune- System disorders, and seven common malignant tumors) totaling 700,000 participants- A clinical cohort (N = 50,000 patients with 50 rare diseases) |
| Australian Genomics Health Alliancehttps://www.australiangenomics.org.au/ | - Run strategies to government for the reasonable, effective and supportable delivery of genomic medicine in healthcare- Confirm genomic and medical data is kept safely and shared responsibly to increase our understanding of health and disease- Form Australia's research and clinical expertise in genomic medicine- Improve Australia's gene discovery, functional genomics and drug discovery research capacity- Advance a new era in clinical delivery, where the patient is informed, involved and empowered- Promote ethical, legal and social obligation in the application of genomic knowledge |
| Singapore (POLARIS)https://www.a-star.edu.sg/polaris/ | - Provides the usual application of genomic technologies in patient care- Precision medicine can cause better patient outcomes through improved clinical response rates and reduced treatment toxicities based on the choice of the appropriate drug for the patient in accordance with that at the right time |
| Belgium (Belgian Medical Genomics Initiative, BeMGI)http://www.bemgi.be/ | - Use of genomic information to predict clinical outcome- Have an initial role to combination of genomic information in clinical care |
UK United Kingdom, WGS Whole-genome sequencing, T2D Type 2 diabetes, SNP single nucleotide polymorphism, GWAS Genome-wide association study, HLA Human leukocyte antigen, GMS Genomic Medicine Sweden, DNA Deoxyribonucleic acid, IRUD Initiative on Rare and Undiagnosed Diseases, WES Whole exome sequencing, NGS Next-generation sequencing, NHS National Health Service, QGP Qatar Genome Project