Free Testing and Counselling for Rare Diseases

To address the challenges posed by rare diseases in the nation, the ICMR’s National Institute for Research in Reproductive and Child Health (ICMR-NIRRCH) declared its initiative to provide complimentary genetic testing and counseling services.

Rare diseases are typically chronic and progressive medical conditions that pose life-threatening risks to those affected. Out of the 350 million patients suffering from rare disease globally, India alone is home to approximately 72-96 million patients, according to the Ministry of Health and Family Welfare (MoHFW).

Genetic Research Centre (GRC) – Timely Therapeutic Interventions for Rare Diseases

Genetic Research Centre (GRC) also aims to facilitate timely therapeutic interventions and provide critical support for both patients and their families. The centre also holds approval under Pre-Conception and Pre-Natal Diagnostic Techniques Act, 1994 (PCPNDT) to conduct genetic counselling and testing. While the GRC is currently offering its services in Maharashtra, people with rare diseases from other parts of the country can avail the services, ICMR-NIRRCH said.

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The recently established Genetic Research Centre (GRC) will evaluate clinically abnormal instances of rare pediatric diseases and trace the origins of undiagnosed genetic disorders.

“Strengthening access to genetic testing and counselling for rare diseases will pave the way for their early diagnosis and timely intervention, helping improve the health and wellbeing of some of the most vulnerable sections of society. This is a revolutionary step that can transform several lives, especially young lives in the country,” said Dr. Geetanjali Sachdeva, Director, ICMR-NIRRCH, in a statement.

With no approved treatment for 95 per cent of rare diseases, the diagnosis of rare diseases is challenging. While early genetic testing is key, diagnosis is conducted through a distinctive blend of clinical and laboratory methods, including cytogenetic, biochemical, and molecular approaches.At present, the centre is providing its services to around 570 families yearly, covering genetic conditions during infancy, childhood, and adolescence, as well as for reproductive difficulties faced by couples.

“Our centre is working to address a critical public health concern. By reaching out to special schools, hospitals and the public, we are striving to raise awareness around rare diseases and enhance uptake of essential testing and counselling. In doing so, we aim to mitigate the societal burden of these diseases and realize the national goal of a healthy society, with universal access to healthcare services,” said Dr. Shailesh Pande, Medical Geneticist and Head GRC, in the statement.


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