Rare Diseases - Orphan Drugs

Abstract

Rare diseases (RDs) are a class of diseases that do not affect most of the population. Apart from the common diseases that affect most people, some severely rare diseases often pose unique challenges to society and the healthcare systems in India. According to the National Institute of Health (NIH), the F.D.A., and the National Organization for Rare Disorders (NORD), a rare disease is any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States as defined by the Orphan Drug Designation Program. However, 95% of rare diseases currently have no treatment available. Healthcare Experts estimate that around 7000 rare diseases have been identified globally, out of which 450 have been reported in India, like hemophilia, thalas-semia, sickle cell anemia, and Pompe’s disease. Rare diseases come in many forms, including cancers and auto-immune diseases. Drugs for rare diseases are among the highest-priced medications on the market than other common drugs. A medical advisory board of nationally recognized and specialized physicians can help build in-depth case management tools and clinical decision support systems to develop and advance novel therapies. Recognition of carriers harbouring clinically pathogenic genetic vari-ations is essential to provide proper genetic counselling to the patient and management. The precise delineation of distinct RDs is possible through a meticulous clinical evaluation of the patients and their genetic screening. The Electronic Health Record (E.H.R.) helps foster collaboration and better outcomes. A holistic approach should be integrated across health care providers, both at the pharmacy and medical level, that helps improve patient experience and outcomes and reduce costs. Strong health poli-cies and initiatives are required both from private and government institutions for orphan drug development. A separate course on Clinical Genetics must be included in the academic curriculum of medical students in order to provide them knowledge on the basic concepts of genetics and its applications in human health.