The promise of precision
For all the risks and rewards of DNA testing, is there a way to dive into the depths of our genetic data without sacrificing accuracy or privacy? The answer may lie in precision medicine, where researchers seek to glean population-level data that integrates environmental, lifestyle and genetic factors to discover new insights and provide tailored medical treatment.
Unlike DTC tests like GeneLife and GeseDNA that cater more towards individual tastes and rely on genotyping, precision medicine makes use of a technique called whole genome sequencing that analyzes practically the entire length of an individual’s DNA based on a routine blood sample.
Consequently, by pooling the genomes of thousands, if not millions of people, researchers can uncover rare disease-causing variants and develop therapeutics accordingly.
Yet, Asia is also underrepresented in global genomic repositories. Though Asians account for over 40 percent of the world’s population, only 19 percent of participants in genetic studies are of non-European descent. To address this gap and tap into the region’s diversity, countries from India to Thailand are heeding the call, with nationwide—and even region-wide—genome sequencing initiatives emerging all over the map.
Among the most ambitious of these initiatives include GenomeAsia100K, led by Nanyang Technological University, Singapore, as well as genomics companies MedGenome from India and Macrogen from South Korea. In a 2019 study, the consortium analyzed the genomes of 1,739 people in countries ranging from Papua New Guinea to Pakistan.
Already, the initiative has found that people with East Asian ancestry have a higher risk of having an adverse response to common drugs like warfarin, an anticoagulant used to prevent blood clots. Such insights may influence clinicians to prescribe specific medicines only to individuals belonging to certain population groups, representing yet another benefit of precision medicine.
Meanwhile in 2019, Singapore’s National Precision Medicine Programme created the world’s largest Asian genetic database by sequencing around 5,000 individuals from the Chinese, Malay and Indian ethnic groups as part of the SG10K project. While these sequences are but a fraction of the larger population, 98.3 million genetic variants have already been uncovered with over half, or 52 million variants, being completely new to science.
Probing deeper, the researchers also pinpointed seven genomic regions more likely to show mutations in Asians and known to influence characteristics like alcohol metabolism and immune response—potentially explaining distinctive traits like the notorious Asian flush.
Beyond biomedical implications, results from the database have also shown that the Chinese, Malays and Indians likely shared a common ancestral population around 80,000 years ago.
But while genome sequencing initiatives offer the depth and credibility that DTC genetic tests largely lack, are they more secure? Though they share and process data in a similar manner to the DTC companies described earlier, the regulatory landscape is thankfully less of a wild, wild west.
“National-level sequencing initiatives are likely to differ in that there will typically be better governance and greater transparency and mechanisms in place to ensure accountability. For instance, human biomedical research and personal data protection laws and regulations will apply to an initiative like SG10K,” commented Ho.
Some people, however, remain unruffled.
“I think we live in a day and age where as long as you are a part of modern society, it’s impossible to have complete privacy,” said a senior product designer from Singapore who had taken the CircleDNA test.
“Everything we use daily is provided by a third party, with your data collected and recorded. It doesn’t matter anymore if it is the government or a third-party provider that holds your genetic data,” she added.
For all the promises, predictions and perils offered by DTC genetic tests and precision medicine, sharing our DNA for analysis is a choice that ultimately remains in our hands. Though genetic tests may have their merits, precision medicine opens the doors for the science-backed assessments of drugs, treatments and health conditions—a significant upgrade from the crystal balls of ages past.
This article was first published in the July 2021 print version of Asian Scientist Magazine.
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Copyright: Asian Scientist Magazine. Illustration: Shelly Liew/Asian Scientist Magazine.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.
