Danai Pathomvanich
Apr 18, 2016
A non-profit consortium, GenomeAsia 100k recently announced plans to sequence 100,000 individuals from 12 South Asian countries and at least seven North and East Asian countries.
The genome sequencing study when complete will make it possible to understand the biology of disease in the currently under-studied Asian populations that represent 40% of mankind.
It may also provide clinical insights that should enhance our understanding of several rare and inherited diseases, as well as complex diseases such as cancer, diabetes and cardiovascular disease.
The sequencing process
The sequencing of 100,000 Asians will be combined with micro-biome, clinical and phenotype information to allow a deeper analysis of diseased and healthy individuals in the context of inferred local ancestries.
The consortium’s key goal according to a February 2016 press release will be to accelerate precision medicine applications for Asian patients. It will also build advanced analytical capabilities to parse 'big-data' sets, leveraging advances in data science and artificial intelligence.
Initially, the project will be a major step forward in understanding the population history and population substructure of the region.
Project host
Professor Stephan Schuster of Nanyang Technological University (NTU Singapore) will be the Scientific Chairman and Professor Jeong-Sun Seo, Director of Genomic Medicine Institute at Seoul National University (GMI-SNU) and Chairman of Macrogen will serve a co-Scientific Chairman (North and East Asia) of the consortium.
Mahesh Pratapneni, CEO, Emerge Ventures, will act as the Executive Chairman of the project.
Supporters of the initiative include genomics companies Macrogen, MedGenome, as well as life sciences company Illumina.
The consortium will be hosted at Nanyang Technological University, Singapore.
Professor Bertil Andersson, President of NTU said a greater understanding of the Asian population's genome could lead to better healthcare discoveries in the future.
"The human genome is extremely important because they play a big part in the diseases that affect all of us, such as cancer, diabetes and cardiovascular disease. With almost all current personal genomics efforts concentrating on populations in the western world, the new consortium will benefit the Asian population as it sheds light on the genetic fabric of Asians."
DNA mutations turn into cancers
Bert Vogelstein, a Johns Hopkins oncology and pathology professor and noted cancer and genomics expert proved in the 1980s that DNA mutations turn into cancer.
“Since then 15 genes have been identified as key actors behind the development and the spread of cancer.”
Volgelstein concentrated his efforts on detecting cancer earlier-and earlier before they become incurable.
Liquid biopsy
Volgelstein and his colleagues developed a “liquid biopsy” that involves taking blood samples and testing for the tiniest amounts of tumor DNA.
This technique uncovers tumors that are one per cent of the size detected by conventional MRIs. The tumors are so small that the cancer can be discovered before any symptoms develop.
Vogelstein’s goal is detecting cancers before they pose a mortal threat.
Commercialization
Vogelstein and a Johns Hopkins colleague Luis Diaz founded Personal Genome Diagnostics (PGDx) that now offers sequencing.
During the PGDx process, when a person is diagnosed with cancer, his oncologist sends in a tumor sample and a spit vial. The cancer and normal cells are compared.
When the samples are received, the painstaking genome sequencing process begins. When the sequencing is done, gigabytes of information are crunched and analyzed.
The program parses out exactly where proteins are mutating.
“It makes sense of why your cancer is growing. It gives you more information about your tumor than any oncologist can.”
PGDx’s test can tell a patient why his or her cancer is growing and which medicines might stop these mutations.
Chemotherapy – may not be needed in future
These genome sequences advances will one day reduce traditional cancer chemotherapy that attacks normal as well as cancerous cells, to a very limited role because targeted gene therapies will be used.
In his best seller, Industries of the Future, author Alec Ross said drugs will be targeted to an individual’s genetics instead of using chemotherapy.
“It will make today’s most cutting-edge treatments look absolutely primitive by comparison.”
