Verified By April 12, 2023
Rare diseases, also known as orphan diseases, are medical conditions that affect a small percentage of the population. In India, rare diseases are a growing concern, with estimates suggesting that there are around 70 million people affected by rare diseases. Examples include:
Despite the large number of people affected by rare diseases in India, there are significant challenges in diagnosing and treating these conditions.
Despite these challenges, there are some positive developments in the field of rare diseases in India. In 2017, the government announced the National Policy for Treatment of Rare Diseases, which aims to improve access to care and support for people with rare diseases. The policy includes provisions for funding for treatment, as well as measures to improve diagnosis and support for families affected by rare diseases.
Genetic Counselling is an important domain in the management and prevention of rare diseases. Genetic counsellors help us to understand the risks of developing a disorder or a disease based on family history and calculate the risk of recurrence. They can counsel parents for an appropriate solution before a child with a rare disease is born. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases.
Apollo Hospitals Navi Mumbai has an advanced Genomics Institute that offers genetic counselling and prevention strategies for all those at-risk and suffering from a rare disease. This is especially important for parents who have children with rare diseases. We also encourage screening tests to help diagnose rare diseases in the early stages.
Talk to our experts for further details on the management of rare diseases.
In conclusion, rare diseases are a significant health concern in India, affecting a large number of people and presenting significant challenges for diagnosis and treatment. Addressing these challenges will require a concerted effort from healthcare professionals, policymakers, and the broader community to raise awareness, improve access to care, and invest in research to better understand these conditions.