Genetic testing companies can help achieve ICMR’s call for developing drugs for rare disease

About Author: Dr Anup Rawool is the Associate Director, Medical Genetics and Head, Scientific and Medical Affairs at MedGenome. He has over 12 years of experience in the field of clinical and molecular genetics. Dr Anup operates at the forefront of advanced technologies and techniques in genetic medicine. His comprehensive skill set includes precision medicine, medical genetics, cancer genomics, reproductive genetics, metabolic genetics, genetic testing, and genetic counseling.

Genetic testing companies are crucial in elucidating the genetic basis of rare diseases, providing essential data to guide clinical management and therapeutic strategies. The recent initiative by the Indian Council of Medical Research (ICMR) to create avenues for collaborative research with pharmaceutical, biotechnology companies and molecular genetic testing laboratories further emphasizes the significance of genetic insights in drug development for rare genetic disorders.

By leveraging genetic data, as highlighted in previous studies, this collaborative effort aims to accelerate the discovery of drug targets and personalized treatment approaches, ultimately benefiting patients with rare genetic conditions.

Genetic testing companies are at forefront when it comes to tackling rare diseases – whether it is aiding clinicians with the diagnosis, assisting patient management, prognostication etc or screening of at-risk individuals to plan surveillance strategies. At the same time genetic testing labs also play a pivotal role in advancing pharmaceutical development by providing essential genetic data that informs drug target identification, personalized medicine strategies, and clinical trial optimization when it comes to rare diseases.

Repurposing of already known drugs licensed for oncology, immunological diseases etc. to management of rare diseases has been a pivotal juncture in this journey. Through the analysis of individuals’ genetic information, these companies uncover disease-associated genetic variations, enabling pharmaceutical firms to look beyond the conventional barriers of the disease pathophysiology to circumvent and explore niche areas for mitigating the problem of rare diseases.

Addressing Unmet Medical Needs: In Rare diseases we often lack the appropriate medical genetic data, epidemiological perspective with respect to social parameters, available effective treatment options and identify the initiative’s focus on addressing priority rare genetic disorders to bridge this gap, consequently enhancing healthcare outcomes for affected individuals, considering the distinctive nature of India’s heterogeneous population.

Identify Drug Targets: Genetic insights reveal genes or mutations implicated in disease pathology, guiding the development of targeted therapies addressing underlying genetic mechanisms. Aiding focused research on this aspect while mitigating the costs and infrastructural necessities in some cases.

Reducing Medication Costs: By developing Indian-made drugs for rare diseases, the initiative aims to significantly reduce medication costs, ensuring greater accessibility for Indian patients who previously couldn’t afford imported drugs. Creating an avenue for Indian model of drug research and development.

Personalize Medicine: Genetic data allows for personalized treatment plans, optimizing drug efficacy and minimizing adverse reactions based on individual genetic makeup.

Accelerate Clinical Trials: Genetic testing aids in patient stratification for clinical trials, ensuring participants possess relevant genetic profiles, thus streamlining recruitment and expediting drug development. Cutting down the cost and time frame for such studies.

Optimize Drug Development: Genetic insights inform drug development strategies, highlighting disease heterogeneity, identifying subpopulations with unmet needs, and guiding optimal clinical trial design. Even certain AI tools come in handy with respect to such research topics.

Facilitate Biomarker Discovery: Genetic testing aids in biomarker discovery, enabling early screening tests – warranting confirmatory/molecular genetic tests as appropriate for diagnosis, monitoring of disease progression, prediction of treatment outcomes, and informed therapeutic decision-making.

Providing Research and Regulatory Support: The ICMR offers assistance in various stages of drug development, including pre-clinical research, clinical trials, and regulatory approvals, thereby streamlining the process and potentially accelerating the availability of treatments. This will encourage the interest of both public and private entities to join the bandwagon for research and development to address rare disease in India.

This collaboration between genetic testing companies and pharmaceutical industry holds promise for advancing precision medicine, improving patient outcomes, and addressing unmet medical needs across diverse therapeutic areas.

*The views expressed by the author are his own.