10 countries with the goal of sequencing at least 100,000 genomes
Large-scale genome sequencing has become a reason for hoping that genetic diseases will find a find a way towards diagnosis and innovative treatments. Proof, "100,000 genomes" initiatives proliferate across the world. An article on what the authors call "the 100,000 genome club", published in Clinical OMICS, gives an overview of them.
In Europe, a joint declaration "Towards access to at least 1 million sequenced genomes in the EU by 2022" seeded the joint European effort to deliver cross-border access to genomic health data. As of 16 October 2018, with the Netherlands being the latest country to sign it, they were 18 european countries to joint the collaborative effort.
Individually also, countries have set up their own projects of sequencing. In England, the 100,000 Genomes Project was entrusted to Genomics England after its creation in 2013. According to Genomics England, the project has provided sufficient evidence to the National Health Services (NHS) to implement sequencing in routine care, which will be done starting from October 2018.
In France, the public genomics initiative started in 2016. France Médecine Génomique 2025 has thus created 8 sequencing platforms and 12 platforms specialised in bioinformatics. For 2020, France hopes to reach the sequencing of 235,000 genomes, of which 170,000 would come from cancer patients, and 60,000 from patients with a rare disease. Earlier in the year, Inserm, Aviesan joined Genomics England to develop a joint vision from France and England.
In Estonia, a personalised medicine program was launched in 2016, and started the recruitment and genotyping of 100,000 participants for the Estonian biobank in April 2018.
Turkey has also had a sequencing program of 100,000 genomes since February 2018. This is the first phase of the program, which aims to sequence one million genomes by 2023. Part of the programme will be aimed at studying rare diseases.
The GenomeAsia 100K project, launched earlier this year, will sequence genomes from all major ethnic population groups and at least forty Asian countries. Japan’s Initiative on Rare and Undiagnosed Diseases (IRUD), founded in 2015, is a medical research consortium with more than 2000 undiagnosed registrants in December 2016. In China, the 100,000 genome sequencing project started in December 2017. The aim of this project is to sequence the genomes of different ethnic groups in China through three phases. The project will also serve to correlate genes and diseases.
Saudi Arabia’s national program projects for the sequencing of 100,000 samples within five years. By the end of 2016, the program had developed 13 gene panels covering 5,000 hereditary diseases.
In the United Arab Emirates, Dubai Genomics aims to sequence the genome of its 3 million residents.
Australia holds the most recent project, with the Australian Genomics Health Futures mission, which was launched in May 2018. The purpose of the mission is to fund research, clinical trials and technologies that will enable Australians to have access to advancements in genomics. The first project of the mission was called "Mackenzie’s mission", destined for pre-pregnancy testing for rare diseases.
In the United States, the NIH’s research program named “All of Us” aims to sequence the genome of one million Americans and was opened in May 2018. Participants will also share information on their health and lifestyle, collected from online questionnaires or their electronic health records.
These new initiatives mean a hope for all patients suffering from diseases with a genetic origin, and especially rare disease patients, as genomic initiatives will seed progress towards diagnostic and therapeutic innovations.