Too rare for research?
Looking at the current scenario, the health care sector is facing prominent challenges to create awareness about the rare diseases. “Too rare for research?” Victims of rare diseases often experience delay in diagnosis and undergo minimal treatment. When diagnosed, these disorders cause significant loss of health and economic value.
India is witnessing a major lag in the health care services considering the fast growing population. These diseases occur very rarely and do not affect very large percentage of the people. However given our large population base it still affects a large number of patients, over 75 million people in India suffer from rare disorders. Awareness around rare disorders is a challenge for both patients and our medical system. To address such address such health issues our health care system needs to act on priority to increase awareness.
Rare diseases and patients do count!
Rare diseases, also known as orphan diseases, have a low rate of occurrence and impinge on a small number of patients. As a result consideration for these orphan disorders is poor amongst professionals, community and policy makers.
Most of these are genetic disorders which mainly occur due to mutations in one of the many genes. There is significant risk of repetition therefore increasing the importance of timely recognition and diagnosis.
What makes the need for a focus on rare diseases essential is the fact that they are mostly severe, degenerative as well as life threatening, and in most cases occur in childhood. As mentioned before, all these disorders can recur in families who can have more than one affected child with the disorder.
Most families consult multiple healthcare providers over many unfruitful sessions for management and prevention of rare disorders. This has led to a delay in treatment and spiraling clinical condition. Helping the patient battle the disease in these incapacitating illnesses is a major challenge as these disorders are rare and treatment costs are very high. Therefore a concentrated effort should be made for awareness of such disorders and government intervention is necessary to boost research and lower the cost of treatment.
Research projects like Genomics for Understanding Rare Diseases India Alliance Network (GUARDIAN) are underway to increase the understanding of these disorders. The ultimate objective of such efforts is to lower diagnosis cost and treatment for these life threatening disorders.
India is still at a very nascent stage on the advancements made on rare genetic disorders. We need to appreciate the importance of research to diagnosis and treatment of rare diseases. Recognition of the importance of identifying novel treatments for these orphan genetic disorders is critical.
Molecular testing for some disorders is now available. Prenatal diagnostic tests can be done during pregnancy to ease the burden of these disorders. These tests can be performed at or after 11 weeks gestation to determine if the fetus is affected.
Children with genetic disorders can be treated if they are given access to the essential treatment on time. This would significantly improve quality of life and life expectancy for severe case. Though facilities for rehabilitation are available in India, they are grossly insufficient and in most places inaccessible. Rehabilitation options are barely present as these diseases are largely out of the purview of the healthcare system in the country.
Amalgamation of efforts
Generating awareness is a prerequisite for early diagnosis and timely management of these disorders. Building awareness of rare diseases can encourage researchers, draw interest from pharma, and secure funding from the government. When it comes to publicity, celebrity support can make a huge difference.
Despite tremendous advances in recent years, many healthcare providers still don’t know what to do when presented with a rare disease. Understanding all of a disease’s signs and symptoms is crucial to better diagnosis and treatment. Government needs to encourage the medical community come up with the best set of diagnostic tools possible.
Research and development also plays an important role in detection, prevention and treatment of diseases which are caused by genetic abnormalities and mutations.
Experts, healthcare professionals, related patient groups, community educators and NGOs need to collaboratively work together to capitalise on scientific advances and make a real difference in the prevention and management of these genetic conditions.
(The writer is the Managing Director of Premas Life Sciences)