Translating global genomics research into affordable health care solutions

Developing countries today, continue to battle the rising burden of diseases be it cancer, infectious diseases, or non-communicable diseases (NCDs). Non-communicable diseases now account for over half of the overall burden of disease in lower-middle income countries, and close to one-third in low-income countries, improving the prevention and diagnosis of NCDs as well as delivery of appropriate care and affordable treatment becomes the highest priority for emerging economies. In the recent years, advancements in technology and science have been driving research studies focussing on improvement of patient outcomes and quality of health care. Today, genome-based research is already enabling medical researchers globally to develop improved diagnostics tools, more effective therapeutic strategies, evidence-based approaches for demonstrating clinical efficacy, resulting in better decision-making for patients and providers.

Emerging economies have been facing low awareness, lack of access to timely and affordable quality health care solutions. While communicable diseases like tuberculosis and malaria persistently claim lives, prevalence of Non-Communicable Diseases (NCDs) such as cancer, diabetes and heart disease has also been rapidly rising. Based on the data from the WHO, NCDs account for over 74% of all deaths globally, with 77% of these occurring in developing countries. Adding to the complexity are rare genetic disorders, often shrouded in mystery due to lack of timely intervention and limited access to appropriate to advanced diagnostic tools.

The Human Genome Project has significantly advanced our understanding of the genome, the function of genes, and the genetic basis of health and diseases. Subsequent research has enabled the discovery of genetic variants associated with specific diseases through meticulous examination of individual genetic blueprints. This knowledge has spurred the development of diagnostic tests by genetic diagnostic companies, facilitating timely disease diagnosis, prognosis, and personalised treatment plans.

Developed countries have led numerous genomics-based population-level research studies, building databases of genetic biomarkers and developing targeted therapies. With advances in science and technology, developing countries are also contributing to global research efforts. For instance, in India, researchers have identified genetic markers linked to tuberculosis and Parkinson’s disease, enabling early intervention and improved care.

The wealth of data generated through large-scale genomic studies proves invaluable in deciphering how genes interact with each other and the environment and its effect on disease development in an individual. Further, the data serves as the fuel propelling further research, enabling researchers to correlate the genotypic and phenotypic characteristics of the disease, and expediting the drug discovery process. Some of the efforts in this area include the Global Burden of Disease (GBD) study, which maps the global distribution and impact of diseases; GenomeAsia 100K, a South Asian population-based study focused on all major Asian ethnic group for sequencing 100,000 individuals and recently, United Kingdom Biobank and All of Us research programme in the U.S. which sequenced millions of people and made the data publicly available to scientists for analysis. These insights taken by examining individual’s genetic blueprint and aggregating vast genomic datasets, are useful in driving public health interventions and subsequent resource allocation in emerging economies.

Collaborations and partnerships play a pivotal role in advancing global research efforts and translating the benefits of the data and discoveries in developing countries. These partnerships offer essential resources, facilitate the exchange of expertise, and contribute to infrastructure development, allowing developing nations to leverage global technological and scientific advancements. Through joint research projects, data sharing, technology transfer, knowledge gaps can be bridged, local research can be strengthened, ultimately accelerating the translation of genomic discoveries into building an affordable and inclusive health care ecosystem for all.

A prime example of this is Non-Invasive Prenatal Testing (NIPT), a screening method that can detect genetic conditions in a foetus. MedGenome was the first to introduce NIPT in India and validated for Indian population.

While the potential of genomics is undeniable, the effective utilisation of these tools and application of research insights in emerging economies necessitates laying a robust health care foundation. Equipping doctors, nurses, and genetic counsellors with the knowledge and skills to interpret genomic data, counsel patients, and integrate genomic testing into clinical practice is crucial. This encompasses not only understanding the technical aspects of sequencing and analysis but also developing robust communication network to navigate the ethical and psychosocial considerations surrounding genetic information. Additionally, including genomics early on in high school educational programmes can lay a strong foundation, encouraging students to pursue genomics as part of the STEM field. Investing in human capital through comprehensive training programmes ensures that emerging economies are not mere recipients of genomic advancements but active participants in shaping a future where precision medicine benefits all.

The future of health care in emerging economies envisions genomics as a key growth driver. By seamlessly integrating genomics into routine clinical practice, we can stride towards a future characterised by personalised, preventive, and predictive medicine. This transformation promises not only to enhance individual health outcomes but also to fortify health care systems, paving the way for a healthier and prosperous future for all.

This article is authored by Vedam Ramprasad, CEO, MedGenome.