How the Genome Asia 100K Initiative is Impacting Disease Research

The GenomeAsia 100K Initiative made big waves in 2016 when it was announced as the first significant pan-Asian endeavor to create a comprehensive genomic database. The initiative is similar to the 100,000 Genomes Project in the United Kingdom and the US Precision Medicine Initiative. 

The initiative will sequence 100,000 individuals from Asian countries. Sequencing reference genomes for all major ethnic groups will help to understand the population history and substructure of the region. The top goal of the consortium is to expedite the precision medical applications for Asian patients and build up analytical capabilities to parse big data sets. Asian populations represent 40% of all humans and, until now, the population has been understudied compared to others.

Genome sequencing will be combined with microbiome, clinical, and phenotype information to allow deeper analysis of diseased and healthy individuals based on inferred local ancestries. 

The initiative is led by a consortium of companies, academics, and other major stakeholders in the field of genetics, including Professor Stephan Schuster of Nanyang Technological University (NTU Singapore) and Professor Jeong-Sun Seo, Director of the Genomic Medicine Institute (GMI-SNU) and Chairman of Psomagen. Other companies supporting the project include MedGenome and Illumina.

Initial Results

Pilot results of the project were released in 2019; data came from whole-genome sequencing of 1,739 people from 219 population groups and 64 Asian countries. The project cataloged genetic variation, population structure, and disease associations and founder effects. 

Using these results, researchers were able to:

• Better understand the historic demographics of Asian populations, especially new insights into Denisovan ancestry in south Asia. 
• Protein-altering genetic variants found in these samples that were not previously documented. 
• Identify 11 uncommon variants associated with rare disease in Asian populations. 
• Examine 13 unique variants in cancer-associated genes. 
• Analyze alleles that could impact drug sensitivity and adverse drug reactions. 
• Identify high identical by descent (IBD) scores in tribal groups compared to non-tribal groups, indicating possible population bottlenecks in the past. 
• Identify 121 novel protein-truncating variants, including an allele of an ABCA7 gene. Based on European genetic studies, similar ABCA7 changes are associated with increased risk of developing Alzheimer’s disease. 

Applications of Large-Scale Genome Sequencing

Large-scale sequencing projects like this one have become feasible over the last few years due to the improving ability to sequence the human genome. We’ve also seen improved technologies for biomedical analysis and new tools that allow for large datasets. With big-data parsing tools and artificial intelligence, researchers can use large amounts of data to apply precision medicine to multiple goals, including cancer prevention. 

Projects like these are crucial to improving disease prevention and unlocking new treatment options. In the short-term, these projects will lead to:

1. Innovative clinical drug trials.
2. Greater adoption of combination therapies.
3. Reduction of adverse drug reactions in at-risk patients.

In the long-term, these projects could:

1. Illuminate direct ties between diet, genetics, and the development of diseases.
2. Lead to a new model for conducting pharmaceutical research.
3. Advance pharmacogenomics with individualized treatment plans that identify the right drug at the right dosage for each patient.
4. Lay the scientific foundation for the treatment and cure of many diseases.
5. Replace existing, invasive treatments for disease.

With Next-Generation Sequencing (NGS) companies like Psomagen, Illumina, and MedGenome putting significant funding towards these projects, there are very high expectations on the real medicinal impact of their outcomes. 

Genetic projects have already shown great promise in drug development and research. Genomic database projects will be important to many countries and ethnic groups looking to improve healthcare to their populations.