Genetic Advancements A Hope For Rare Diseases- RARE is Real; Proper CARE Can Defeat It

Indian Rare Disease Diagnostic is set to see a paradigm shift with adoption of Next Generation sequencing to diagnose diverse and undiagnosed “Rare-Diseases”.

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04%) in the country.

There is a lack of awareness about rare diseases in general public as well as in the medical fraternity. Many doctors lack appropriate training and awareness to be able to correctly and timely diagnose and treat these conditions. According to a recent report, it takes patients in United States (US) an average of 7.6 years and patients in United Kingdom (UK) an average of 5.6 years to receive an accurate diagnosis, typically involving as many as eight physicians (four primary care and four specialists). In addition, two to three misdiagnoses are typical before arriving at a final diagnosis. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially. There is an immediate need to create awareness amongst general public, patients & their families and doctors, training of doctors for early and accurate diagnosis, standardization of diagnostic modalities and development of newer diagnostic and therapeutic tools. (Sourced from Policy on Rare Disease in India, GOI).

So far only limited number of diseases has been recorded in India from tertiary care hospitals that are globally considered as rare diseases though ambit may encompass from 7000 to 8000 disorders. The commonly reported diseases include Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias etc.), Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc.

?Redcliffe started its journey with high throughput sequencing lab in Delhi/NCR in 2017-18, with a clear vision to address the segment and offer its services in identifying the rare disease with a scientific approach, with our collaborations all across the country with the medical genetics and expertise from various segments including researchers, we have been diagnosing and helping in discovering new findings from the areas like Neuro-Degenerative, Developmental Delay, Cardiovascular, Muscular Atrophy etc.?

?We have sequenced more than 10000 samples in last 4 years from diverse background and have been working to reduce the cost and turnaround time for these reports which has been a major challenge in the segment, with a team of expertise varied from GC to Data Scientist and Medical Geneticist to ensure a robust and industry best reports to our doctors.

?Cut to 2022-23, with more than 50 labs and 1000s Collection center, a dedicated team of Genetic Counselors and experts Redcliffe is more prepared and available across the country to help diagnose these cases with fastest TAT and easier reach.

?A dedicated team of scientist and Data experts are analyzing the genomics data to bring new and novel findings which are being published to use as future references.