Genomic Sequencing Has Dramatically Increased Diagnostics Market Size: Sam Santhosh

In an exclusive interaction with BW Healthcareworld, Sam Santhosh, Founder and Chairman of MedGenome, speaks about the firm and its researches & innovations in COVID times. Excerpts:

How has MedGenome contributed to the mitigation of the disruptions caused by COVID-19?

In these tough times, our goal has been to leverage our expertise to fight the pandemic by making COVID testing accessible to as many people as possible across the country and to provide insights into the virus variants through our genomic surveillance initiatives. We started offering RT-PCR tests in Bangalore and are gradually expanding to other cities. We are also conducting Antibody tests and are in the process of getting approvals for our in-house developed COVID Antibody kit.

In partnership with the Bruhat Bengaluru Mahanagara Palike (BBMP), we have been able to assist in reducing the load on the testing infrastructure of the Government. We have tested nearly 2 lakh samples of customers at our own lab in Bangalore.

In addition, our research team has explored the genetic reasons for some people getting severe infection compared to others. After studying over 3,00,000 genomes, we were able to predict the variants in the ACE2 gene that increase susceptibility and those that increase resistance. These results were published in the Nature journal. This information will be helpful to Pharma companies for developing drugs for COVID treatment.

What kind of influence COVID had on your businesses?

As our business has always been through clinicians, with the focus on COVID, the frequent lockdowns and the reduced number of hospital OPD’s for non-COVID consultations, our business was impacted; however, we took some extra initiatives to help our physicians and patients. During the lockdown in 2020, our team was successfully able to collect Cancer and Hematological samples from the patient’s doorstep to continue testing and provide results to the physicians for targeted therapy for their cancer patients. We were also able to offer timely assistance to pregnant woman and other patients. We expanded our genetic counselling team and provided successful teleconsultations/video consultations to the patients and even doctors for their patients. In addition, we ramped up and channelised our expertise towards COVID testing to make up for the lost business.

How has the pandemic affected your research? And what are the present projects you are currently working on?

Research has always been a primary focus area for us. We have continued these efforts both towards COVID and in other areas. We conducted and published research based on the whole-genome sequencing of the virus isolates from patients with international travel history to understand how the virus affects its host.

One major focus area for MedGenome now is to understand post-COVID illness or what is called ‘Long COVID’. Recent studies are starting to show that nearly 10 per cent of COVID patients suffer from some sort of post-COVID illness ranging from Fatigue and occasional memory loss to more severe situations like Black Fungus and TB. MedGenome has started a research study to understand what are the genetic variants that increase long COVID illness.

Apart from COVID-related research, we have been focusing on bringing new genome sequencing-based tests and providing research insights in key disease areas. We are now launching our Cardiac Risk Polygenic Risk Score (PRS) test as a part of our direct-to-consumer portfolio to help estimate an individual’s risk of developing heart disease early in life.

Tell us more about personalized medicines? How do you see this growing?

It is estimated that only ~ 40 per cent of the drugs, that are prescribed now, are effective or appropriate for the concerned patients. Since these do not consider the person-to-person variability they do not account for the genetic differences that affect the effectiveness of the drugs on different individuals. The concept of personalized medicines is based on identifying genetic and clinical information that allows accurate predictions to be made about a person's susceptibility of developing disease, the course of disease, and its response to treatment. In diseases like cancer, there are several targeted therapies that work only on patients who have a specific genotype or genomic variation; hence, these patients need to be tested before the therapy is prescribed. This is where MedGenome comes in. With the increasing awareness and the need to identify rare disorders at the right time, areas such as Reproductive Health and Oncology are fast-growing.

What kind of technological advancements are needed to help better identify different genomics sequencing?

Over the years, high throughput, scalability, speed and cost were the key factors through which next-generation sequencing has enabled research in a wide variety of applications especially new tests like Non-Invasive Pre-Natal testing (NIPT) were not possible before. Hence Genomic sequencing has dramatically increased the Diagnostics market size. With the reduction in costs for sequencing technologies expected to continue, we will be able to adopt these tools for more applications in clinical research and healthcare, with more people able to benefit from data-driven and tailored treatments. More importantly completely new markets like Liquid Biopsy for Cancer (where a blood test can replace a surgery) to detect cancer or relapse after treatment, Polygenic Risk score to predict risk of non-communicable diseases like Cardiac Diseases and Diabetes, sequencing-based tests from spit to detect diseases like TB, will revolutionize the field of Diagnostics in the immediate future. Technological advancements that are needed to make these better and cheaper, are Artificial Intelligence and better software algorithms.

How do you plan to build a scale?

We have invested on scaling up our infrastructure and building the right technological support. We are now looking at expanding our geographical footprint and focussing on inorganic growth to enable patient access across the country. Our in-house developed Liquid biopsy test for Cancer detection, Carrier screening to prevent inherited diseases and TB diagnostics test using Genomic sequencing need sample collection points across the country. In addition, our newly launched direct-to-consumer vertical will also add to our business scale in the coming years, mainly through e-commerce enabled online platforms.


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