The recent pandemic continues to be an example when in the absence of a cure, diagnostics transformed to be the first weapon to fight the biggest public health crisis the world has seen. The pandemic has not only reasserted the importance of diagnostics in health space, it has also exercised to its limits nearly all aspects of modern viral diagnostics and pushed breakthroughs in diagnostics especially in Molecular Biology.
COVID-19 presented different symptoms in different people and the treatment given to the patients initially was largely supportive as there was no effective antiviral drug, vaccine, or antibody against the virus. The physicians continued to practice traditional trial and error medicine. However, knowing what causes variation in different patients could have greatly helped physicians tailor their treatments to individual patients – an approach known as precision medicine. In recent years, a gene-centric approach to precision medicine has been promoted as the future of medicine. Precision medicine also referred as Personalized Medicine or Personalized care is an approach where molecular markers point towards a person’s risk of developing a disease, determine whether a person is a carrier of a hereditary condition, screen for diseases that are present but not yet symptomatic, confirm a diagnosis, or monitor how a patient is responding to treatments.
The Advent of Personalized Medicine
Personalized medicine is not a new concept. It has been around for over two decades now, and has been dismissed by many as highly speculative and over-hyped. However, with advances in technologies, personalized medicine has never been closer to not only become a reality but also to be a more accessible and accurate solution to various individual healthcare needs.
Personalized medicine is an approach which involves using specialized diagnostic tests to stratify patients on the basis of the prognosis, risk factors, disease subtypes, or treatment response. It aims to diagnose and prevent ailments through close monitoring of multiple factors, comprehensive biomarker testing, deep analysis, and patient health coaching.
Today’s medicines, treatment, and even preventive medical advice, by and large, follow the “one-size-fits-all” approach. They do not essentially take into consideration the genetic, environmental and lifestyle differences. But, personalized medicine does.
Personalized medicine involves a deep-analysis of environmental factors, genomics and high throughput biological data, such as epigenomics, transcriptomics, metabolomics, etc., bioimages, data from electronic health records, mobile health applications, wearables and point-of-care diagnostic devices to yield a more accurate understanding of the patient’s health.
More often than not personalized medicine is viewed as biologic determinism. However, personalized medicine can be more about preventive care that it is deemed to be. This is because genetic factors don’t solely influence diseases.
Understanding Genome in relation to Personalized Medicine
A genome is the complete DNA make-up of an organism which is the carrier of hereditary information that guides the development and functioning of the organism.
In 1990s, the Human Genome Project was launched in the United Stateswhich was thesingle-largest effort to understand the genetic make-up of humans at that time. Apart from mapping of the human genome by 2003, the project added much understanding and information about the human genome.
For instance today we know that humans have about 22,300 DNA genes in our body. We understand that while the human nucleotide sequencing is 99.9 per cent identical between any two individuals, the change of a single nucleotide in a single gene can cause a human disease.
Such findings have aided a stronger understanding of human diseases and their underlying molecular mechanisms. It also assisted the understanding that genes do not function in isolation, but in relation to our lifestyle, such as diet and nutrition, physical environment, etc. The understanding of these relations would help determine more precise and personalized treatment for a patient.
Taking strides into the direction of more comprehensively learning about the human genome, the Indian Government approved the Indian Genome Project in early 2020 to map the Indian genetic pool and understand its diversity in order to lay a foundation for precision medicine and customizable treatment, but most importantly, equally increase our efficiency for preventive interventions.
Role of Personalized Medicine in Effective Preventive Care
Diseases have complex manifestations and they impact a number of biological sub-systems. In response to diseases, traditional medicines are multi-faceted and depend on various intrinsic and extrinsic factors, including age, sex, diet, co-medication, liver function, etc.
Therefore, a “trial and error” approach is presently being implemented to disease treatment involving adverse effects, reactive treatment, and even misdiagnosis. For a patient, this essentially means increasing healthcare costs, prolonged treatment, and worsening health conditions.
However, personalized medicine can support better patient stratification and create avenues for pro-active programs, with better quality of life while reducing cost of treatment. It will also help in drawing out a more accurate, and not necessarily aggressive, preventive care plan for patients. Personalized genomic medicine will also empower patients to be more responsible for their own health.
The Many Advantages of Personalized Medicine
Personalized medicine can lead to better efficacy of medication owing to tailored treatment as per patient profile; minimize adverse events and associated risks; help ascertain relevant therapies that would impact patients positively; and reduce cost of treatment. Additionally, it can effectively and empirically support early detectionof diseases with the help of molecular and non-molecular biomarkers andenhance management of diseases with wearable sensors and mobile health applications.
Also, as a major benefit to scientific and research community, personalized medicine will help the medical community in the selection of the responders at baseline and in designing clinical trials better.
From the time of the Human Genome Project to the time of the Indian Genome Project, the world of data sciences and technology have transformed tremendously, which is driving a revolution in healthcare and diagnostics.
While scientists and researchers are finding path-breaking ways to leverage new-age technologies, India would need a stronger support in terms of digital and physical infrastructure, R&D, policy guidelines, and financial liquidity to keep a pole position in becoming a global hub for personalized medicine as well as to realize the vision of Ayushman and Arogya Bharat.