Genomics – powering revolution in health care

Learn how genomics solutions can transform health care.


Over the last decade, genomic medicine has acquired a prominent position within clinical medicine, making strong inroads into oncology (cancer), cardiology, neurology and other areas of medical science. It has played an instrumental role in the study of various infectious and rare diseases by providing new diagnostic, prognostic and therapeutic options.

In India, there have been notable efforts in developing genomics applications over the last 10 years, such as the development of a malaria vaccine by the World Health Organization (WHO) and the International Centre For Genetic Engineering and Biotechnology (ICGEB).

More recently, a genomic study developed a polygenic risk score for coronary artery disease based on ancestral genetic traits in Indians with the objective of reducing overall risk through the targeted use of preventive medications or population-specific lifestyle modifications.

Hence, given the implications, genomics has emerged as a crucial area of research that has the potential to transform the health care landscape.

Bringing genomics research to medical practice

Since 2013, the governments of at least 14 countries have invested over US$4 billion in establishing national genomic medicine initiatives to translate genomic findings and insights from centers of excellence to mainstream medical practice. 

Integration of both genomic knowledge and genomic processes into existing clinical workflows will help ensure that physicians are able to grasp and communicate the actionable recommendations that a genomic test can provide to patients. 

Some potential use cases where new genomic tests, studies and solutions are proving to be very relevant are discussed below:

Personalized care

Various research studies have contributed to the understanding that genomics can play a pivotal role in “precision medicine” by devising individualized treatment for each patient in areas of risk assessment and disease prediction, dealing with an illness, response to treatment and more. 

Pharmacogenomic tests are being developed and used to help physicians determine therapeutic options that can identify individual genetic traits or combination of traits in order to maximize a patient’s response to a treatment plan.

Case in point, the National Institute of Health Implementing Genomics in Practice network developed a specific pharmacogenomics test for patients receiving a heart stent to identify those who were poorly responding to clopidogrel, a blood thinner. This helped cardiologists determine alternate medications that will specifically prevent heart attacks and strokes in such patients.

Genome-Wide Association Studies (GWAS) are being used for pre-emptive genotyping to identify individualized patient risks of developing certain conditions and mapping out such assessments in order to plan for treatments. 

For example, polygenic risk scores are being increasingly used to detect the highest and lowest risk of a certain disorder, especially in case of potential cognitive or behavioral disorders and chronic heart diseases among siblings of the patient.

Treatment for chronic and rare diseases

Gene therapy and gene-based therapy solutions (including CAR T-cell therapies and CRISPR/Cas9 based genome editing) have revolutionized clinical medicine and specialty care for several chronic, rare or malignant diseases that were previously untreatable. Case in point, Zolgensma for children younger than 2 years of age with spinal muscular atrophy and Selpercatinib for treatment of non-small cell lung cancer.

Based on current trends in development, 30–60 gene therapies are likely to be added into clinical medicine by 2030. These therapies are projected to treat about 350,000 patients with lymphoma, leukemia, and several congenital or rare diseases. 

Additionally, integrating genomic testing into certain diseases that follow definitive treatment protocols, such as those in oncology, neurology and cardiology, can help identify the best-fit key medicines and reduce the risk of occurrence of side effects or further worsening of the disease.

Genomics for population health

Public health genomics is poised to address the challenges of worldwide population health through knowledge integration, enhanced education and training, informing public policy, helping develop and evaluate health services and more.

Genomic technologies can identify the impact of genomic variants in different population subgroups and then provide tailored interventions that are more relevant to their level of risk, resulting in more efficient and effective disease prevention, screening and surveillance strategies. 

This precision health approach has added an important dimension to population health management by providing insights regarding causes and risk factors of various diseases and even prevention of pathogenic disease outbreaks. 

The potential value of these genomic applications has made governments re-assess the current public health policies and frameworks for lacunae and infrastructural deficiencies (such as the need for more genomic testing and educational training centers) that impede the effective delivery and sustainable integration of genomics within the current healthcare ecosystem. 

A few impeding factors

While genomics is fast revolutionizing modern medicine, there have been certain barriers to scaling up its use in health care. These include:

Cost: In developing nations such as India, there is limited research to understand the economic value of genomics in health care. Although there has been a reduction in the cost of tests, it still comes at a premium. This can be addressed if insurance providers make it part of their coverage plans. 

Complexity of data: A significant proportion of doctors from various specialties are not comfortable interpreting the complex information generated by a genomics test because there are limited clinical practice advisory documents (CPADs) or clinical practice guidelines available for genomics. 

In areas where clinical evidence is limited, CPADs can help explain the current practice options as well as identify key knowledge gaps. These can be updated with additional evidence as and when it becomes available.

Lack of expertise: By 2025, genomic data from over 60 million patients is expected to be generated within health care. However, there is a dearth of experts, such as genomic counselors and medical geneticists, who can interpret and translate this highly complex and voluminous data into concise actionable items for clinicians to relay to the patients for accurate treatment. 

Currently, only seven countries have more than the NHS-recommended number of six genetic counsellors per million population.

Evolving legal framework: An individual’s genomics is a blueprint of his lifetime health, thus is highly private and confidential. Unauthorized use and access of such information by insurers, employers, and so on, makes for a key cause for concern. 

Hence, there is a need for a comprehensive legal framework that addresses individual privacy concerns regarding genomics data accessibility and usage and that requires the country’s legal bodies in association with the National Health Board to monitor the advances in genomics for new legal boundaries. 

The role of academics and technology

There is a strong need for cultivating talent for genomics research and implementation from the grassroot level with academic courses, developing an expanded curriculum and nurturing research institutions. 

For those looking at a career in building genomics-related solutions, specialized knowledge of technological solutions is a must. This includes sequencing methods and platforms, systems for genomic data processing pathway analysis, as well as application of machine learning and natural language processing methods in genome sequencing. 

Upskilling the existing medical fraternity through targeted training and continuing medical education to harness the potential and applicability of genomics for better decision-making is equally vital.

Technology is playing a pivotal role in accelerating the integration of genomics into health care with the advent of digital tools and devices, such as wireless sensors and wearables, information systems and Internet of Medical Things (IoMT)-based health-tech products. 

The ability to monitor patients’ lifestyles through digital devices will go hand-in-hand with the clinician’s efforts to reduce the probability of developing conditions predicted through genomic testing.

The future of genomics in India

Fast-growing emerging economies like India offer fertile ground for the steady growth of genomics-based medical solutions. In the last 10 years, genetic testing in India has evolved by leaps and bounds, which can be recognized from the proliferation of genomic databases, such as Index-DB, Indian Genetic Disease Database (IGDD), to name a few.

However, this progress faces technical challenges, such as the need for implementation of electronic health record (EHR) systems and lack of standardization in healthcare databases in hospitals and laboratories, thereby limiting health information exchange. 

Recommendations from NITI Aayog, such as establishing Centers of Research Excellence and common supercomputing facilities, increasing R&D resources, and creating an ecosystem for the development and application of AI, are aimed at addressing these challenges in integrating genomics into the Indian health care system. 

While questions related to patient-privacy and the legal implications of sharing the genomic data of an individual will modulate these advancements in the forthcoming years, the health care system is now moving irrevocably forward towards integrating genomics into day-to-day medical practice and genomic solutions are going to see increased adoption and growth in the forthcoming decade.