ICMR’s National Institute of Reproductive and Child Health (ICMR-NIRRCH) Genetic Research Centre (GRC) in Mumbai has become the first government centre in Maharashtra to offer free genetic testing and counselling services for rare diseases. 

The centre currently caters to referrals from municipal corporations, government medical colleges, and hospitals in the surrounding areas of Mumbai, as well as rural populations from across Maharashtra. 

The institute said in a statement that it is equipped to conduct genetic counselling and testing, ensuring comprehensive support, for individuals affected by rare diseases.

Rare diseases (RDs) are typically life-threatening chronic and progressive medical conditions. Of the 350 million people with rare diseases globally, 72-96 million are in India, according to the Ministry of Health and Family Welfare (MoHFW). 

Children are among the most affected, since several rare disorders have a genetic basis and manifest in childhood. About 35 per cent of the deaths resulting from genetic disorders in children occur within the first year of life, while 10 per cent transpire between ages one and five, and 12 per cent between ages five and 15. 

The diagnosis of rare diseases is also challenging, and there is no approved treatment for 95 per cent of rare diseases.

Also read: BioAsia meet: Telangana to set up ₹2,000-cr Genome Valley phase-II

ICMR-NIRRCH’s GRC aims to address this problem by enhancing access to high-quality and free testing and counselling services, the statement said. 

The centre also holds PCPNDT (Pre-Conception and Pre-Natal Diagnostic Techniques Act) approval for these services. 

Diagnosis of rare genetic diseases is conducted through a blend of clinical and laboratory methods, including cytogenetic, biochemical, and molecular approaches. 

At present, the centre caters to around 570 families annually, covering genetic conditions during infancy, childhood, and adolescence, as well as reproductive difficulties faced by couples. 

Additionally, as one of the sites for the Mission Programme for Paediatric Rare Diseases, the centre assesses clinically abnormal cases of rare paediatric diseases.

Dr Geetanjali Sachdeva, Director, ICMR-NIRRCH, said, “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.”