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A global look at population sequencing efforts

As the price of next gen sequencing plummets, nations big and small are embarking on ambitious NGS projects to investigate disease and generate baseline information
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In brief: Programs are now underway to sequence millions of genomes in a broad effort to investigate populations and build infrastructure. Here is a list of current genome sequencing projects around the world.

Countries in North America and Europe are leading the charge to sequence the genomes of vast swaths of their populations.

The wild expansion of these efforts has come about as the price of genome sequencing has plummeted. What cost $100 million per genome in 2001 is now about $995.

An analysis of this ballooning of global genome sequencing shows programs underway to sequence millions of genomes. The sequencing efforts are mainly aimed at:

Here are some current sequencing projects:

All of Us

Country: United States
Sequencing goal: 1 million
Objectives: Accelerate research to improve health

All of Us is a National Institutes of Health campaign aimed at investigating how biology, lifestyle, and the environment affects health, with the goal of finding new ways to treat and prevent disease. Opportunities for researchers include interactive data browsing, regularly updated data snapshots, and access to methods of data curation.

Million Veteran Program
Country: United States
Sequencing goal: 1 million
Objective: Creation of sequencing database that includes veteran status and lifestyle

Launched in 2011, this national research program is focused on learning how genes, lifestyle, and military exposure may affect health and illness. To date, 825,000 veterans have joined the study.

Genomics Medicine 2025
Country: France
Sequencing goal: 1 million
Objectives: Strengthen ability of sequencing to explore pathologies that benefit patients

Genomics Medicine 2025 is modeled after similar programs in the U.K. and U.S. with a focus on solving technological, scientific, clinical, and economic challenges in population-scale sequencing. The program also seeks to integrate genomic medicine into normal care pathways for common diseases.

Precision Medicine Initiative Cohort
Country: United States
Sequencing goal: 1 million
Objective: Clinical

This initiative, which is also a National Institute of Health campaign, focuses on diversity of patient samples and is being implemented by the National Institute on Minority Health and Health Disparities. The program includes people who are medically underserved or historically underrepresented in biomedical research, or who face systematic social disadvantages.

Turkish Genome Project
Country: Turkey
Sequencing goal: 1 million
Objective: Create a national DNA map in the clinical market space

The Turkish Genome Project is an initiative of the newly founded Health Institutes of Turkey. Its goal is to sample both healthy individuals as well as those with rare and complex diseases to establish a national biobank and a biomolecular resources infrastructure.

Country: Finland
Sequencing goal: 500,000
Objectives: Genotyping, better diagnostics, and new therapies; this effort would sequence 10% of the country’s population

Launched in 2017, this Finnish project hopes to create a springboard for better diagnostics and new therapies. It is based on a public-private partnership between Finnish and international universities, biobanks, hospitals, and pharmaceutical companies to drive research, implementation, and economic development in the fields of personalized medicine.

NHS Genome Medicine
Country: United Kingdom
Sequencing goal: 500,000
Objectives: Extend access to molecular diagnostics to all people with cancer

This program intends to build on existing genetic studies in the U.K. and establish a national genomic library network (composed of seven lab hubs), test directory, and whole-genome sequencing infrastructure.

Genuity Science
Country: Ireland
Sequencing goal: 400,000
Objectives: Whole genome sequencing of 10% of Ireland’s population; develop new drug targets and diagnostics

Formerly Genomics Medicine Ireland, this is a long-term research project involving hospitals, advocacy groups, academia, and research centers to understand how genetics, environment, and lifestyle can help guide disease prevention and treatment.

100,000 Genomes Project
Country: China
Sequencing goal: 100,000
Objectives: Clinical, study how genes and the environment interact

Launched in 2017, this was China’s first foray into human genome research. Lead by researchers at the Harbin Institute of Technology, this project would sequence genomes of different ethnic backgrounds and regions in China.

100K Genomes Project
Country: United Kingdom
Sequencing goal: 100,000
Objectives: Clinical, capacity building, focus on rare diseases, common cancers, and infectious diseases

This U.K. program seeks to embed genome sequencing into routine health care since the 2018 launch of the Genomic Medicine Service, and also kickstart the development of a U.K. genomics industry.

Genome and Personalized Medicine Initiative
Country: Israel
Sequencing goal: 100,000
Objectives: Improve targeted patient healthcare services, build technology tools and infrastructure

Launched in 2018, this campaign hopes to establish Israel as a world leader in precision medicine and digital health, and improve targeted patient healthcare services. Patient sampling kicked off in 2019 with the help of Israeli health maintenance organizations (HMOs).

Genomics England
Country: United Kingdom
Sequencing goal: 100,000
Objectives: Cancer and rare diseases research and insight

This Department of Health and Social Care program is focused on National Health Service (NHS) patients with rare diseases and their families, and patients with cancer. An infectious disease component is led by Public Health England.

Genomics Health Futures Mission
Country: Australia
Sequencing goal: 100,000
Objectives: Clinical, genetic analysis tools, disease testing and diagnosis

The centerpiece of the Australian government’s National Health and Medical Industry Growth Plan, this program aims to save or transform the lives of Australians through genomic research to deliver better testing, diagnosis, and treatment.

Initiative on Rare and Undiagnosed Diseases
Country: Japan
Sequencing goal: 100,000
Objectives: Clinical, rare, and undiagnosed diseases

This clinical research program is for patients with rare diseases which may otherwise go undiagnosed even when presented to a medical professional. It seeks to grow a network of medical experts and a nationwide medical research consortium dedicated to pediatric and adult patients, and integrate data with global databases to accelerate research into rare and undiagnosed diseases.

Personalized Medicine Program
Country: Estonia
Sequencing goal: 100,000
Objectives: Clinical, catalog genetic variation across the population

This government-led program hopes to improve the health of the Estonian population by analyzing genetic data in combination with the environment, health behaviors, and personal health data.

Saudi Human Genome Program
Country: Saudi Arabia
Sequencing goal: 100,000
Objectives: Clinical, capacity building, focus on severe inherited diseases, determine variants underlying genetic disease in the country

This program investigates the high incidence of genetic disease in Saudis with the goal of reducing time to diagnosis, increasing the accuracy and efficiency of diagnosis, and leveraging that information to improve databases and overall knowledge about inherited diseases in the country.

Country: United States
Sequencing goal: 100,000
Objectives: Predict, prevent, and treat gene-related diseases

This geographically focused campaign by the Yale Center for Genome Analysis surveys residents of Connecticut to create an electronic biobank to identify genetic mutations and patterns in DNA that may be related to particular health concerns.

Dubai Genomics
Country: United Arab Emirates
Sequencing goal: 50,000
Objectives: Clinical

Dubai Genomics is a part of the Dubai 10X project to build the necessary infrastructure for genomic medicine and start a large-scale whole genome sequencing effort. Additional goals are to create novel artificial intelligence capability to help with complex sequence analysis layered with longitudinal data for accurate prediction risks.

Faroe Genome Project
Country: Faroe Islands, Denmark
Sequencing goal: 50,000
Objectives: Clinical

This program pairs reliable registries, a restricted geography defined by remote islands, and a small population for focused genetic research. The genetic data gathered from the campaign will be used by public health services.

Hong Kong Genome Project
Country: China
Sequencing goal: 50,000
Objectives: Whole genome sequencing for 20,000 patients, patient families, and research cohorts for clinical management, including several genome sequences per patient, e.g., tumor-normal or family trio genomes.

Kicked off in 2020, this government-led project would set up a genome sequencing database to help detect undiagnosed cancers.

Genome Denmark
Country: Denmark
Sequencing goal: 150
Objective: Establish a high-quality Danish reference genome

This focused government study would improve the interpretation of clinical genetics in Denmark by establishing a national reference genome.

Bangladesh Genome Project
Country: Bangladesh
Sequencing goal: 100
Objectives: Whole genome sequencing to identify biomarkers for cancer and inherited disease risks; establish a domestic beachhead for genome sequencing.

Launched in 2019, this government funded project would identify genetic markers associated with cancer and inherited disease risks specific to the Bangladeshi population.

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