Imagine living with a condition that impacts a tiny fraction of the population in the country. Imagine months and sometimes years of searching for a diagnosis, to be told treatment options either do not exist or they are priced out of reach. This is the plight of millions of rare disease patients in India. With over 7,000 identified rare diseases throughout the world, India alone estimates that around 70 million people live with such conditions (Source: ICMR). The problem of Rare diseases in india is severe; however, some rays of hope do shine through called precision medicine. 

In contrast to the traditional way of viewing disease therapy, the concepts of precision medicine focus on healthcare solutions around the individual patient, taking genetic, environmental, and lifestyle factors unique to the patient into consideration. Such approaches combine multi-omics solutions, advanced diagnostics, and targeted therapy for greater customization of treatment in terms of individual patient tolerance, enhancing the chances of improved outcomes.  

Uncoded by Premas Life Sciences is dedicated to equipping the healthcare and research communities with tools at the cutting edge of innovation that will facilitate significant breakthroughs in disease diagnosis and treatment. We have over 17 years of experience as not only suppliers but partners in discovery, justly pursuing our goal of revolutionizing precision healthcare by precluding full accessibility and effectiveness in rare disease treatment.

The Growing Challenge of Rare Diseases in India

Perniciously rare, nevertheless, these diseases collectively affect millions, furthering variety. Each condition affects a minuscule number of people, thereby giving much trouble in diagnosis and cure. Some of the important points are:

• Delayed or Misdiagnosis: Several rare diseases do display common symptoms, leading to years of misdiagnosis. Example: Some overlapping signs are present in Gaucher disease and anemia, leading to misdiagnosis on repeated occasions.
• Restricted Access to Advanced Testing: Genetic testing and multi-omics analysis that is essential for the diagnosis of rare diseases are simply beyond the reach of many patients on account of high pricing and poor availability.
• No Targeted Treatments: There are no new treatments once the rare disease is positively diagnosed. Targeted therapy platforms involving personalized approaches to treatment are available for only a few rare diseases in India.
• Treatment Generally Expensive: Rare diseases taking enzyme replacements average treatment costs several lakhs per annum for rare disease treatment, thus making it beyond the reach of a majority of families.
• Gaps still exist concerning regulation and policies: India has witnessed progress on a lot of fronts regarding rare diseases (an instance being the National Policy for Rare Diseases 2021), however, gaps still exist on funding, access to treatments, and patient support. 

Here, precision medicine intervenes. By disproportionately locating the diagnostic crosshairs on the genetic and molecular basis of disease, we are whittling our options down from doing something about the symptoms to doing everything to solve the individual patient. 

How Precision Medicine is Transforming Rare Disease Treatment?

1. Multi-Omics: Decoding Diseases at the Molecular Level

The approach to understanding the complexities of rare diseases has to be all-encompassing and multi-layered. The multi-omics solutions, those blending genomics, transcriptomics, proteomics, and metabolomics, would take into account the crucial molecular view of these mechanisms. Uncoded serves researchers working to:

• Find genetic mutations leading to diseases with next-generation sequencing (NGS) and whole genome/exome sequencing.
• Look further into how such genes interplay with external factors in the prediction of disease progression. 
• Formulate personalized treatment protocols based on molecular profiles rather than generalized clinical features.

With Spinal Muscular Atrophy (SMA), for instance, knowing the exact mutation in the SMN1 gene prompts the customized therapies that better support patient survival rates.

2. Targeted Therapy: Personalizing Treatment for Maximum Efficacy

Targeted therapy is the way treatment is designed to hit the disease-causing molecular pathways. The advantages are manifold: 

• Higher effectiveness: Medicines have been developed uniquely for the genetic mutation implicated in the disease.
• Fewer side effects: Collateral damage to normal cells is cancers if these agents can direct their action explicitly to the defective pathways.
• Less trial-and-error method: Precision diagnostics have paved options for doctors with obvious efficacy in mind. 

Take, for instance. Enzyme replacement options in therapy have been targeted in the treatment of such rare diseases as Fabry disease and Pompe disease.

3. Gene Therapy & CRISPR: Revolutionizing Rare Disease Treatment

Gene therapy and CRISPR technology would perhaps rank as the most thrilling applications of precision medicine. Rather than ameliorating signs and symptoms of a disorder like traditional therapeutics, these interventions hoped to cure patients by correcting the underlying genetic defect. 

Some key breakthroughs include:

• Gene replacement therapy for SMA that restores the production of essential motor neuron proteins
• CRISPR-based treatment for sickle cell disease, in which faulty hemoglobin genes are repaired
• RNA-based therapies modify gene expression at the cellular level to counteract disease progression. 

This is where Uncoded comes in equipping researchers with the tools that make these frontiers accessible while hastening ground breaking cures. 

Challenges in Implementing Precision Medicine in India

Even so, incorporating precision medicine into India’s healthcare concept comes with problems: 

• High Cost of Genetic Testing and Treatment: The promotion of precision diagnostics will require government assistance and financial arrangements with the industry to lower costs.
• Inadequate Infrastructure & Expertise: Another area of human resources is the glaring lack of trained personnel in genomics, molecular diagnostics, and bioinformatics if precision healthcare is to become a viable proposition in India.
• Regulatory and Ethical Constraints: The provisions of a comprehensive policy and safeguards address the issues of data privacy, ownership of genetic data and ethical controversies related to gene-editing technologies.
• Access to Advanced Research Tools: Demand for state-of-the-art, multi-omics platforms for research has gone up. Currently, the platforms are only available in a handful of institutions.

Addressing these issues will require collective efforts from all stakeholders including policymakers, healthcare providers, researchers and industry leaders. 

The Future of Precision Medicine in India

Prospects for precision medicine in India are bright, as progress in technology will bring about cost reduction in: 

• Extended newborn screening programs to enable early detection of rare genetic disorders; 
• AI application in genomics to ensure access to more accurate precision diagnosis; 
• Increased telemedicine applicability for genetic counseling to reach out to remote areas for patients 
• More public-private partnerships thus speeding up research and drug development efforts. 

At Uncoded by Premas Life Sciences, we are committed to ensuring that everyone on this earth gets precision healthcare as intended. By way of advanced multi-omics solutions, we are enabling researchers and clinicians to unlock the future of medicine—one discovery at a time.

Conclusion

Moving Towards a Healthier Future: The journey for rare diseases in India is long but with the realization of precision medicine, we are far closer to actual solutions. What years patients used to suffer in uncertainty, now, it is possible to provide quick and accurate diagnoses with cures that change lives. 

At Uncoded, we believe that health should be about accuracy rather than probabilities. And thus we are committed to providing the scientific community with the best advanced tools that turn possibilities into breakthroughs. Because when we unlock the mysteries of disease at the molecular level, we open the door to a healthier future for all.