“IT IS VERY IMPORTANT THAT WE STUDY GENOMES OF PREVIOUSLY UNDERSTUDIED POPULATIONS”
Interview with Dr. Vedam Ramprasad, CEO, MedGenome
Genome sequencing is increasingly used to develop more effective drug treatments that can be better tailored to patients based on specific genomic profiles. But of the overwhelming majority genomic samples today are from people of European ancestry, with other ethnic groups hugely underrepresented. Dr. Vedam Ramprasad, CEO of the India-based genomics company MedGenome, recently spoke to us about his company’s efforts to expand the genomic data pool and develop more affordable tests for diseases like COVID and tuberculosis.
How do more ethnically diverse genomic data sets make healthcare better?
Every living cell has a code of life that we call DNA, which dictates how the cell functions. Changes to the DNA may cause changes in the functioning of the cell, organ, or body. These changes could be mild—or they could cause bad diseases. Understanding changes to DNA at the individual level gives you answers on how diseases come about, which gives you great biological insights into how to create new treatments, therapies, and biomarkers for various diseases.
While historically drug development was very chemically oriented, in the last decade or so scientific researchers and pharmaceutical companies increasingly are focused on understanding how changes in DNA change the cell’s behavior. There are differences between ethnic groups at the genome level and some of them are significant. Eighty percent of genomic data today comes from populations of European ancestry, so it is very important that we study genomes of previously understudied populations in Africa, South Asia, Southeast Asia, and rarer population groups across the world.
Understanding how different ethnic populations respond to different drugs can inform approaches to drug treatments. For example, in lung cancer there is a drug treatment that works by inhibiting a specific molecule. Individuals who have the gene mutation that produces this molecule respond extremely well to these drugs compared to those who do not. About 15-20 percent of lung cancer patients with a European ancestry have this mutation, compared to 40-45 percent of Japanese.
How will genomic diagnostics get done in countries that may not see this as a priority given other pressing concerns?
Firstly, we can raise as much awareness as possible about the utility of doing genomic diagnostics across underrepresented regions. This can be done through initiatives from governments, through corporate social responsibility initiatives, by organizations like IFC, and by nonprofit organizations. Number two is finding ways and means to subsidize this testing in countries where this would create a significant financial burden. For example, tuberculosis is a major problem in Africa and parts of South Asia, especially with the emergence of drug-resistant mutations. Genomic diagnostics can help it to be treated better.
What about data privacy and data protection—how can this be protected?
There are some basic rules on handling genetic data when any genetic testing is carried out by a laboratory or organization. Genetic data must be considered as sensitive data, which means sharing and using this sensitive data needs to follow certain guidelines. Firstly, sharing outside of the purpose for which it was given can be done only if the informed consent is given by the individuals from whom the samples were taken. Secondly, they should follow the ethical and legal framework in their geography. For example, Europe has a General Data Protection Regulation, Singapore has its own data privacy law, and in the United States there are the Food and Drug Administration’s guidelines. In countries where there is no proper framework, their policymakers need to come up with one. This is the way to allow innovation and science to develop without anyone being exploited.
How did you partner with the Indian government to develop tests for COVID and tuberculosis to widen population access?
In 2018 we became the first company to demonstrate a method of genome sequencing that is based on extracting material directly from the sputum of tuberculosis patients. This method enables all serious, drug-resistant mutations in the tuberculosis gene to be identified in a quicker and more cost-effective way—for less than a hundred dollars. We are working with several organizations and universities to refine these methods so that they can operate at population level.
For COVID, we were the first private company in India to do genomic sequencing of COVID samples when the first wave hit. We set up one large diagnostic center and four diagnostic labs in different parts of India for testing. We helped governments and private organizations to sequence genomes from specific clusters and to identify them as variants of concern. Some Indian state governments also sent us COVID-positive sewage samples that we genetically sequenced. We were able to identify variants of concern and governments then did surveillance of communities in that region.
What are your plans for developing other tests?
On the oncology side, we’re working on unique tests for breast, ovarian, cervical, and lung cancers that identify actionable mutations in tumors so that appropriate therapies can be given to patients. Similar tests being done in Europe and the United States cost five or six times more than the test we are developing. We are also developing liquid biopsy tests where you identify a tumor through blood rather than tissue samples. Making lower-cost tests will be extremely helpful for emerging markets.
This interview has been edited for length and clarity.
Published in January 2022
Dr. Vedam Ramprasad is the CEO at MedGenome, a genomics, diagnostics, and drug discovery research company in India and an IFC client. Dr. Ramprasad is a scientist with several peer-reviewed publications to his credit. He has been a prime driver in building the diverse genetic testing portfolio MedGenome offers. He is also credited with launching some critical genetic tests at an affordable price, including the Non-Invasive Prenatal test (NIPT), Carrier Screening test, and Liquid Biopsy to name a few. With over two decades of experience, Dr. Ramprasad was previously associated with Vision Research Foundation, Sankara Nethralaya (an eye care hospital in Chennai, India), Spinco Biotech, and SciGenom labs. He holds a Master’s degree and a PhD from the Birla Institute of Technology and Science (BITS) at Pilani, India.