“Nearly 0.5% of Indian genotypes have a high genetic susceptibility to SARS-CoV-2 infection”May 9, 2020
Anu Acharya has been at the forefront of genomics for many years. She is a
co-founder and CEO of Mapmygenome, a company that pioneers personalised, preventive healthcare via personal genomics tools. A highly respected entrepreneur and a distinguished alumna from IIT Kharagpur, Acharya has been instrumental in helping Mapmygenome achieve several milestones, awards and honours. From ET start-up awards to NASSCOM Emerge 50, WSJ’s Top Global Startups award and Red Herring Asia to the recently conferred Pride of Telangana award; Mapmygenome has certainly become a force to be reckoned with. Recently, it launched Genomepatri Immunity to strengthen the fight against COVID-19 and other lifestyle diseases. Current Genomepatri customers have already received a free COVID-19 immunity and risk panel report. Edited excerpts.
Since you have already prepared the Genomepatri report for many, what is the most common genetic profile and its susceptibility to COVID-19 infection in India as far as your findings are concerned?
Genomepatri is generated from thousands of genetic markers (called SNPs) across the entire human genome. India has a diverse gene pool and every individual’s genetic profile is unique. Hence, there is no way to single out any of them. The data can be used to study trends and patterns in genotype frequencies, which is a key part of our validation process.
However, there are a high number of samples which are positive for markers which increased risk for common lifestyle disorders – for example, ~24% of the samples tested displayed a high genetic risk for type 2 diabetes, ~4% have genetic variants for vitamin D deficiency, and so on. About 20% of the samples have a medium genetic risk for SARS-CoV infection, while ~0.5% of the samples have a high genetic risk for SARS-CoV infection.
How does the variation in ACE2 factor make some groups more vulnerable to COVID-19 infection as found in some recent studies?
The ACE2 protein in the human body is an important target in COVID-19 infection. This protein is present on the surface of the host’s cells and acts like a receptor for the SARS-CoV-2 virus. Through a specific mechanism, the virus binds to the ACE2 receptors, enters the host’s cells, takes over the controls and makes copies of its own genetic material. Thus, the virus proliferates rapidly, resulting in the next stage of infection. The tissue in the respiratory tract and the lungs is rich in ACE2-receptor cells, forming multiple sites for the virus to bind to and spread rapidly in the body.
Previous studies established that having genetic variations in ACE2 can increase susceptibility to multiple health risks such as hypertension and heart disease. It has now been scientifically proven that ACE2 variants can alter the binding action of the virus, and thereby, susceptibility to COVID-19 infection. Sequence changes (in ACE2) result in stronger affinity and binding between the virus and host cell, thus enhancing infectivity.
What is your assessment of response rate among Indians to medications such as chloroquine and abacavir?
According to previous studies, a significant portion of the Indian population carries the genetic variants for serious drug-induced side effects such as Stevens-Johnson Syndrome (SJS) (abacavir) and haemolytic anaemia (chloroquine). As part of our internal research and validation, we discovered that ~11% and ~2% of the samples tested so far showed genetic contraindication and sensitivity to abacavir and chloroquine, respectively.
What has been the response so far from the medical fraternity who have approached COVID-19 patients for medication and nutrition based on your genetic report?
As of now, the report has not been implemented in COVID-19 patient care, it is only a screening test for enabling better prevention and outcomes. Meanwhile, our team is working on enhancing the scope of the product by adding more drugs and health conditions in the report. As COVID-19 research progresses and newer treatment methods are finalised, doctors will tap into the benefits of screening their patients, especially for drug response.
According to you, which genetic variants are indicative of people who suffer from severe coronavirus infection?
Genes involved in cytokine production, regulation and immune response – TNF-alpha, IL10, IL17- are linked with cytokine storm, or a severe immune reaction. Other genes of relevance include the ACE2 gene – which is the receptor (in the host) that the SARS-CoV-2 virus binds to, and MBL, OAS1, IL1A, and IL18 genes which are involved in viral replication and immune response. Screening for these genetic markers could help identify risk for ‘cytokine storm’, infectiousness and thereby, severe COVID-19 outcomes.