SYLLABUS

GS-2: Issues relating to development and management of Social Sector/Services relating to Health, Education, Human Resources. 

Context: The Government of India dedicated the UMMID (Unique Methods of Management of Inherited Disorders) Network to the nation to strengthen diagnosis, prevention, and management of rare genetic disorders through genome-based and precision-driven healthcare.

About the UMMID (Unique Methods of Management of Inherited Disorders)

• UMMID is a national initiative of the Department of Biotechnology under the Ministry of Science and Technology. 

• It was launched in 2019 to address inherited genetic disorders through an integrated public health approach. 

• The programme follows the principle of “Prevention is Better than Cure.” 

• It aims to prepare India for the emerging era of molecular medicine, genomic healthcare and precision medicine. 

Key Components of UMMID

• Fellowship in Genetic Diagnostics: Doctors from government hospitals receive hands-on training in DNA-based diagnostics. 

o Training is provided by advanced genetics institutions across India. 

o The initiative aims to create skilled manpower in molecular genetics and clinical genetics. 

o Around 96 doctors are planned to be trained over three years. 

• NIDAN Kendras: NIDAN stands for National Inherited Diseases Administration Kendras. 

o These centres provide advanced diagnostics, prenatal testing, counselling and multidisciplinary care. 

o Nearly 30 NIDAN Kendras have been established across the country. 

o They help expand genomic healthcare beyond metropolitan cities. 

• Prevention of Genetic Disorders in Aspirational Districts: UMMID focuses on screening pregnant women and newborns for inherited disorders. 

o Screening programmes target diseases such as beta-thalassemia and other treatable genetic conditions. 

o The initiative integrates genetic services into maternal and child healthcare systems. 

o It also spreads awareness among local communities and district-level healthcare workers. 

Major Achievements

• Nearly three lakh individuals have benefited through screening and diagnostic services. 

• A nationwide framework for genetic diagnostics and counselling has been developed. 

• The programme has strengthened clinician training and community outreach. 

• Genetic services have expanded to Aspirational Districts and remote regions. 

• The UMMID Dashboard and UMMID Compendium were launched to improve monitoring and access to services. 

Significance of UMMID

• It marks India’s first comprehensive national effort to manage inherited genetic disorders. 

• It supports the transition from conventional healthcare to precision and genome-based medicine. 

• It improves affordability and accessibility of genetic healthcare services. 

• It strengthens preventive healthcare and early disease detection. 

• It lays the foundation for future gene-based therapies and personalised treatment protocols. 

• It contributes to research in genomics, pharmacogenetics and rare diseases. 

About the Rare Genetic Disorders / Rare Diseases

• Rare diseases are chronic, debilitating, and often life-threatening conditions that affect a very small proportion of the population. 

• Most of these diseases are genetic in origin and many begin during childhood. 

• They usually require long-term treatment, continuous monitoring and specialized healthcare support. 

• According to the World Health Organization, a rare disease affects one or fewer persons per 1,000 population. In India, the suggested threshold for defining a rare disease is around one person in 10,000. 

• Genetic Disorders: Genetic disorders occur due to harmful changes (mutations) in genes or because of abnormalities in genetic material. 

o Genes are made of DNA, which contains instructions for cell functioning and human characteristics. 

o These mutations may be inherited from parents or may develop over time. Some genetic disorders are present at birth, while others appear later in life. 

Types of Genetic Disorders

• Chromosomal Disorders: These disorders arise due to missing, extra or duplicated chromosome material. Since chromosomes carry genes and DNA within cells, such abnormalities can affect normal growth and development. 

o Examples include Down syndrome, Turner syndrome and Klinefelter syndrome. 

• Complex (Multifactorial) Disorders: These disorders result from the combined effect of genetic mutations and environmental factors such as diet, smoking, alcohol consumption, chemical exposure and medicines. 

o Examples include Diabetes, Cancer, Coronary artery disease and Autism spectrum disorder. 

• Single-Gene (Monogenic) Disorders: These disorders are caused by mutation in a single gene and are usually inherited within families. 

o Examples include Cystic fibrosis, Sickle cell disease, Duchenne muscular dystrophy and Tay-Sachs disease. 

Global and Indian Scenario

• Globally, nearly 6,000–8,000 rare diseases have been identified. 

• Around 80% of them are genetic in nature, and nearly half affect children. 

• In India, only a limited number of rare diseases have been systematically documented due to the lack of comprehensive epidemiological data and disease registries. 

• Commonly reported rare diseases in India include Gaucher disease, Pompe disease, Cystic fibrosis, Muscular dystrophy, Spinal muscular atrophy and lysosomal storage disorders.

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