The world today is confronted with a dangerous virus that has brought economies, travel and life to a complete standstill. Healthcare systems are trying their level best to keep afloat and discover a cure as soon as possible. This urgency to save lives has once again highlighted the need and importance of high-quality scientific evidence and knowledge, stable research infrastructure as well as funds available for medical research, to ensure better response and resilience.
Healthcare research also known as medical research is the driving force for improving the performance of healthcare systems and the quality of life of individuals by finding better preventive and proactive treatments and drugs. This can involve testing new medicines, vaccines, medical devices, new medical procedures as well as examining the whole genome sequence to find out the cause and treatments for various diseases.
While India today is well known for its excellent medical facilities and clinical expertise, it really lacks behind in the field of medical research. A study published by Ray et al (2016) revealed that between 2005-14 out of the 579 medical institutes and hospitals, that were evaluated, only 25 produced more than 100 papers in a year and alarmingly 57.3% of the medical colleges did not have a single publication in a decade as compared to the research output of Mayo clinic, which was approximately 3700 studies in a year. The reason for such a disappointing output can be insufficient funds, poor research infrastructure, the notion that research is done only for the benefit of the pharmaceutical industry as well as overburdened physicians having little time and energy left to think about any serious research.
Apart from this the government and authorities have also failed to integrate medical education and research with basic sciences as well as technology as prevalent in the United States and most European countries. This proves to be a major roadblock to “Make in India” based innovations. In addition to this, there is also a strong presence of an authoritative and hierarchal set up that discourages capable start-ups and faculty to go beyond the routine healthcare practices particularly in the field of genetics.
Genomic research defined as the study of the whole genome to identify genetic mutations, the impact of these mutations on gene functions as well as the interaction of the genes with each other and with the environment in general has gained popularity over the last two decades. Researchers world over have analyzed enormous amounts of DNA sequenced data to assess genetic predisposition to diseases, to improve diagnostics and therapeutics for cancer, diabetes, neurological and cardiovascular issues and for the development of tests to improve the efficacy of drugs to prevent adverse drug reactions.
Even though genetic research and testing have the power to transform healthcare it is still grossly underutilized for disease management in India. Being home to different cultures and genetic diversity in addition to endogamous practices rare diseases such as blood disorders, primary immunodeficiency, neurodegenerative and musculoskeletal diseases amongst many others contribute significantly to the medical and economic burden of the country. According to the Council of Scientific and Industrial Research (CSIR), nearly 7 crore Indians suffer from rare disorders of which at least 40% are genetic in nature. Unfortunately quite a few of these genetic disorders are either undiagnosed or misdiagnosed due to insufficient clinical and diagnostic resources and even if these are known the treatment is not always available resulting in huge physical and monetary costs to patients who very often have to suffer all their lives. Rare diseases are also more common in children and are responsible for 30% of the deaths during infancy. There is a need to address these challenging issues by investing more funds into biomedical and genetic research to identify the main causes of diseases and discover novel therapeutic targets and strategies to improve healthcare in the country.
It has also been observed that the genetic data of the Indian population is grossly under-represented in worldwide genomic studies and thus clinicians need to rely on the gene data banks from UK, USA, or the Caucasian population. This does not serve us well as this data is not reliable. Given the unique diversity in the Indian population, which is absent elsewhere, genomic research only seems to be the way forward to reduce the impact of diseases. Practicing precision medicine utilizing this indigenous data will also help to reduce inequities in how healthcare is financed. It is estimated that the government expenditure was about 1.4% of the GDP in 2017-18 while the private expenditure was three times this number. Given this pattern correct and early diagnosis and removal of trial and error through pharmacogenomics will greatly help to reduce this cost.
The department of Biotechnology has made a considerable breakthrough to solve the struggle for genetic data in the last one year by mapping the genomes of 1008 people across different ethnicities. While this is a step in the right direction it is still a drop in the ocean given the sheer diversity and sub-population of people in India. In China and the US, almost a million people are included in research studies therefore it is essential for the government to scale up the sample size and include more people as well as reduce the cost of collecting such data. Attention also needs to be given to carry out newborn screening pilot projects on a national scale to lower the burden of rare diseases and also train more clinicians, researchers and councilors to correctly interpret the results for the benefit of the common people. The government also needs to initiate researches on gut microbiomes and gene editing – a group of technologies that give the scientists the ability to change a person’s DNA by adding, removing or altering genetic material at particular locations in the genome- to help treat cancer, metabolic and cardiovascular disease as well as neurodegenerative conditions like Huntington disease, Alzheimer and Parkinson that have no specific diagnostic approaches or treatments.
Our country is definitely active in the field of medical research but it is still not doing as much as it can. The discoveries that are being made are only a fraction as there is so much that can be learnt from our diverse population. India can truly become one of the models to study genetic variations and how these relate to disease and drug responses. It is now time for the government to increase funding and formulate policies to create a national genomic platform, which will improve the healthcare system so that our future generations can lead healthier lives without having to suffer tremendous financial burdens.
About the Author
Chandni Luthra is the Co-founder and Director of FutureMed a molecular genetic company that specializes in genetic testing for wellness, precision medicine as well as clinical genomics. FICCI Ladies Organization (FLO) in association with the Ministry of Micro, Small & Medium Enterprises Government of India recently selected her amongst 100 successful women entrepreneurs in MSME.