Global Government-Led Human Genome Sequencing Initiatives Overview

U.S. scientists first proposed the Human Genome Project in 1985, and it was officially launched in 1990. Scientists from the United States, the United Kingdom, France, Germany, Japan, and China all participated in this $3 billion initiative. On June 26, 2000, scientists from these six countries jointly announced the completion of the draft sequence of the human genome. Following the conclusion of this large-scale, globally influential genome sequencing project, various countries around the world have successively launched their own genomic sequencing initiatives. VCBeat has provided a general overview of the countries that have taken action:

China

Recently, the National Health and Family Planning Commission announced that China is formulating a strategic plan for “Precision Medicine,” which may be included in the Major Science and Technology Projects of the 13th Five-Year Plan. Additionally, Academician Zhan Qimin, a member of the National Expert Group on Precision Medicine Strategy, stated that precision medicine applies modern genetic technologies, molecular imaging techniques, and bioinformatics, integrating patients’ living environments and clinical data to achieve precise disease classification and diagnosis, and to develop personalized treatment plans. Developing precision medicine represents a significant opportunity for China, and regulatory authorities have considered incorporating it as a key priority in the 13th Five-Year Plan. By 2030, China will invest RMB 60 billion in precision medicine, with RMB 20 billion funded by the central government and RMB 40 billion provided by enterprises and local governments.

In the realm of precision medicine, this November, Shengjing Hospital of China Medical University, in collaboration with the Genetic Counseling Branch of the Chinese Society of Human Genetics, launched the “China Twin Genome Project.” This initiative aims to gradually establish standardized guidelines for non-invasive prenatal testing (NIPT) in twin pregnancies and promote the application of NIPT technology in such cases.

This is related to the current reality of increasing twin pregnancies driven by the relaxation of the two-child policy and advancements in assisted reproductive technologies. As China currently lacks definitive methods for prenatal diagnosis of twin pregnancies, there is a need for highly accurate non-invasive prenatal screening. The “China Twin Genome Project” aims to complete non-invasive prenatal testing on 10,000 twin samples within three years.

United Kingdom

On November 12, 2015, Genomics England, a company wholly owned by the UK government, announced that it had signed an agreement with BGI-Shenzhen (Shanghai) Biotechnology Co., Ltd. Under this agreement, the Chinese company will participate in the UK’s “100,000 Genomes Project” by providing genomic data analysis tools to help researchers improve the quality of their data analysis.

The UK’s “100,000 Genomes Project” was proposed by British Prime Minister David Cameron in December 2012 and implemented by Genomics England, with the aim of sequencing the genomes of 100,000 patients within the National Health Service (NHS) by 2017. Launched by the government in 2012, the initiative sought to sequence the complete genomes of 100,000 patients recorded in the UK’s National Health Service (NHS).

The project aims to develop personalized therapies for cancer and rare diseases based on genomic and clinical data, positioning the NHS as “the first mainstream healthcare system in the world to offer genomic medicine as part of routine care.” This initiative not only benefits participants through clinical analysis but also ensures that their genomic data contribute value to patients across society. For instance, by comparing a patient’s prostate cancer genetic profile with data from the UK Genomic Database, physicians may identify specific genetic patterns underlying the disease. They can then locate other patients with similar genetic profiles to determine which treatments and procedures are most beneficial.

It is reported that the project will receive a combined investment totaling more than £300 million, positioning the UK as a global leader in genetic research on cancer and rare diseases.

United States

In fact, the United States, despite its pronounced advantages in pharmaceutical R&D and innovation, is not a global leader in national genome sequencing initiatives. In late January of this year, President Barack Obama passionately announced the “Precision Medicine Initiative” during his 2015 State of the Union address, allocating $130 million to the Million Veteran Program’s genome sequencing effort, which accounts for 60.5% of the total initiative budget ($215 million).

As the short-term goal of the “Precision Medicine” initiative is to identify more effective treatments for cancer, while its long-term objective is to provide valuable information for personalized therapy across a wide range of diseases, the core of the project lies in establishing a volunteer cohort comprising men and women of all age groups and health statuses to investigate the impact of genetic variations on human health and disease development. Researchers hope that, while recruiting new volunteers, the “Precision Medicine” initiative will effectively integrate genomic data from tens of thousands of participants in existing research programs, ultimately reaching a total enrollment of one million individuals.

Analysis suggests that the primary reason for the United States lagging behind Europe (the UK) in implementing “whole-genome sequencing” is not technological inferiority, but rather the excessive number of gene sequencing companies and institutions in the U.S. On one hand, intense competition among them hinders collaboration; on the other, they lack unified standards and exhibit insufficient compatibility.

Canada

Following the near-completion of the draft sequence of the Human Genome Project in 2001, Canada predicted a surge in individual genome sequencing. With individual genome sequencing, each person’s disease profile, physiological and biological characteristics, and genetic traits would become high-value information for precision medicine. Consequently, the Canadian government launched the Personal Genome Project Canada (PGP-Canada) in 2005.

The project will collect data on volunteers’ genomes, environmental exposures, and human traits based on the fundamental principle that a range of biological phenotypes arise from gene–environment interactions, while also announcing that the research findings will be fully open and shared.

In addition, recent related reports indicate that Canadian scientists have identified more than 1,500 core genes essential for human life by systematically silencing 18,000 genes (accounting for 90% of the human genome). This discovery lays the foundation for achieving a long-standing goal in biomedical research: precisely defining the role of every gene in the genome.



Australia

Australia Plans Four-Year Initiative to Model UK’s 100,000 Genomes ProjectBy sequencing the genomes of patients with rare diseases and cancer, Australia aims to establish a large-scale national genomic database, advance further research and development of related therapeutics, and build a new healthcare service system grounded in genomics.

The project involves the Garvan Institute of Medical Research, the Australian Federal Government, and other research institutions, including Telstra, Australia’s largest telecommunications company, which has established a dedicated health division. The Australian Government believes that this initiative will create numerous opportunities for the government, institutions, and individuals, collectively fostering a genomics economy in Australia.

South Korea

In late November 2015, the Ulsan National Institute of Science and Technology (UNIST) in South Korea announced the launch of the Korean 10,000 Genomes Project. This initiative aims to obtain genome sequencing data from both healthy individuals and those with compromised immune systems, which will be used to study the genetic diversity of the Korean population, build a standardized database of genetic variants, identify rare genetic mutations, annotate genomic data, and promote the growing genomics market. The project is expected to receive $1.5 million in initial funding in 2016 and is scheduled for completion in 2019. Over the coming years, it is projected to secure $23 million in funding.

In fact, prior to the Ten Thousand Genomes Project scheduled for the end of this year, the South Korean government announced on February 19, 2014, the official launch of a $540 million post-genome project aimed at promoting the development and commercialization of novel genomic technologies. The initiative encompasses five major objectives, including mapping a standard human genome reference, advancing domestic human genome analysis technologies, and developing genome-based diagnostic and therapeutic techniques for diseases.

In less than a year, the transition from post-genomics to the official launch of the 10,000 Genomes Project demonstrates South Korea’s strong determination to actively strategize in the genomics field and catch up with global advancements.

Iceland

Although Iceland once teetered on the brink of bankruptcy amid an economic crisis, there is no denying the rapid development of its biopharmaceutical industry, which has been primarily driven by the country’s advanced and well-established biomedical and genetic research.

In March of this year, Nature Genetics published four research reports authored by Icelandic researchers, who sequenced the complete genomes of 2,636 Icelanders. After sequencing the full genomes of these selected individuals, the researchers inferred corresponding findings by referencing the genomic data of another 100,000 individuals, whose genomes were only partially sequenced. These genomic regions are associated with the development of diseases such as heart disease, liver disease, and hyperthyroidism.

In 1998, the biotechnology company deCODE Genetics pioneered an effort to create the first genomic map of the Icelandic population. Although the initiative was highly controversial at the time and faced skepticism regarding its scientific value, the company withstood external pressure and boldly proceeded with the endeavor.

In fact, Iceland possesses a series of distinct characteristics that are conducive to conducting gene sequencing. Its relatively small population and geographically isolated environment provide a natural foundation for studying genetic variations. Additionally, 80% of Icelandic families have stored genealogical data. Furthermore, Iceland’s public health records date back as early as 1915.



Singapore

In June 2000, Singapore launched the "Singapore Genome Project," dedicated to investigating the differential impacts of diseases on Caucasians and Asians, as well as identifying optimal treatment strategies. The first five-year phase of the "Singapore Genome Project" has secured funding of S$60 million (US$35 million).

Singapore’s genomics research initiative is preparing to recruit domestic and international experts in human genetics to investigate the etiologies of diseases prevalent among Asians, including breast cancer, liver cancer, colorectal cancer, and nasopharyngeal carcinoma, with the aim of identifying therapies and pharmaceuticals tailored to Asian populations.

Israel

In May 2015, Israel planned to establish a government-authorized genetic database. The details of the plan had not yet been finalized, nor had it been officially launched; however, many think tanks had already held meetings to examine potential obstacles to establishing the database and corresponding countermeasures. In Israel, every individual has comprehensive medical records linked to their ID number, covering their entire lifespan from birth to death, thereby giving Israel a unique advantage in developing clinical databases.

Currently, the primary task is to collect DNA samples from citizens and match them with clinical data. This presents a significant challenge, as it involves not only issues of citizen privacy protection and ethics but also budgetary constraints related to sample collection and chemical testing for gene sequencing (currently costing approximately $1,000 per sample).

Saudi Arabia

The Saudi Genome Program, launched in late 2013, aims to map the genetic codes of tens of millions of Saudis to identify disease-causing gene mutations and develop novel therapeutic approaches. Through this initiative, researchers will be able to distinguish between benign genetic variants and pathogenic mutations, and strive to develop methods for disease prevention and treatment.

Saudi Arabia is one of the countries with the most severe burden of genetic disorders in the world, primarily due to consanguineous marriages. With a consanguinity rate of 63%, the high prevalence of such unions has significantly exacerbated the spread of genetic diseases in Saudi Arabia. Future advancements in genetic engineering will be applied to areas including premarital screening.

Estonia

In November 2015, Estonia announced the launch of a genetic information query system aimed at collecting DNA data from all its citizens. These data may be used for clinical research to develop personalized medical plans.

Since 2000, the Estonian government has been establishing a genetic database. To date, more than 52,000 genetic samples have been collected and are stored in the Estonian Genome Center’s Biobank. The local government has also developed a medical information query system based on this data, which will be provided free of charge to citizens and their physicians and is expected to launch by the end of this year.

The Estonian government believes that one day, when a sufficient number of people voluntarily donate their genetic data, it will bring about a thorough transformation of the existing healthcare system.

Summarize the above information into the following table: