New Organization Aims to Fill the Gaps in South Asian Genetic Data
Map the Gap, a new initiative by GenomeAsia 100k, plans to address the deficiency in genetic data for South Asians. DNA sequencing is dominated by participants of European descent. According to Lakshmi Maithel, program director of Map the Gap, South Asians represent approximately 25% of the global population yet only 1% of genetic data is derived from South Asians.
This discrepancy could be problematic as there are larger implications to genome sequencing, such as the understanding and identification of the the biology of disease. Studying DNA provides insight into disease inheritance, allowing researchers to better understand, diagnose and treat them. In addition, researchers have found that certain genetic mutations present themselves differently in distinct ethnic groups, hence it is important for diverse samples to exist.
South Asia, in particular, has several founder populations- groups that can trace their genetic roots back to a small selection of ancestors. These founder populations have a higher incidences of genetic diseases.
The practice of arranging marriages exclusively between members of the same community is common in South Asia and further contributes to the prevalence of genetic disorders. In fact, according to Map the Gap, 6% of children born in South Asia are born with a genetic disorder, which can be attributed in part to this cultural phenomenon. In India, over 50 million children are currently affected by genetic diseases.
Map the Gap and GenomeAsia 100k aim to create reference genomes for South Asian populations, allowing doctors to better diagnose children with genetic diseases and develop carrier tests for future use. Through the process of DNA sequencing, GenomeAsia 100k hopes to “understand biology of disease and enable new therapeutic options which will have global impact.”
The program is focused on obtaining genetic data for individuals from Bangladesh, India, Pakistan, Nepal and Sri Lanka. According to Map the Gap, it takes 25 people from each community to create a reference genome. The initiative aims to create four new reference genomes, essentially creating a database of genetic information that can be made available to researchers.
GenomeAsia 100k operates on a larger scale, with its first stage attempting to sequence the genomes of 10,000 Asian individuals. Ultimately, the project’s goal is to sequence the DNA of 100,000 individuals and use the collected data, combined with clinical and phenotype information, to search for genetic variants unique to Asia. In addition, the organization plans to make the data publicly available for further research.
Since the completion of the Human Genome Project in 2003, researchers have noted the diversity and scope of information contained in our DNA: Francis Collins, director of the National Human Genome Research Institute, was quoted as saying “It's a history book - a narrative of the journey of our species through time. It's a shop manual, with an incredibly detailed blueprint for building every human cell. And it's a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease."
Map the Gap aims to bring this blueprint to South Asia, a region that is largely untapped in terms of genetic research, in the hopes that the data uncovered will benefit not only South Asians, but those suffering from genetic disorders around the entire world.