In state-of-the-art, the Indian Council of Medical Research’s National Institute of Reproductive and Child Health (ICMR-NIRRCH) Genetic Research Centre (GRC) in Mumbai has become the first government center in Maharashtra to offer free genetic testing and counseling services for rare diseases.
The center is nowadays offering its services to referrals from prominent municipal corporations, government medical colleges, and hospitals in the surrounding areas of Mumbai. It is catering to rural populations from across Maharashtra as well as other parts of India.
With its innovative genetic diagnostic laboratory and official Pre-Conception and Pre-Natal Diagnostic Techniques Act, 1994 (PCPNDT) approval, the center is fully equipped to conduct genetic counseling and testing. It is ensuring comprehensive support for individuals affected by these serious diseases.
Rare diseases (RDs) are generally chronic and progressive medical conditions that pose life-threatening risks to those affected. According to the Ministry of Health and Family Welfare (MoHFW), out of the 350 million patients suffering from rare diseases globally, India alone is home to approximately 72–96 million patients.
As per experts, children are often most affected, with a considerable number of rare disorders having a genetic basis and manifesting in childhood. About 35% of deaths resulting from genetic disorders among children occur within the first year of life, while 10% arise between ages one and five and 12% between ages five and 15.
The diagnosis of rare diseases is also difficult, and there is no approved treatment for 95% of rare diseases. This highlights the potential advantages of early genetic testing.
The ICMR-NIRRCH’s Genetic Research Center endeavors to address this problem by enhancing access to high-quality and free-of-cost testing and counseling services. Now, the center furnishes its services to around 570 families annually, including genetic conditions during infancy, childhood, and adolescence. It also includes reproductive difficulties faced by couples. Moreover, as one of the sites in the Mission Program for Pediatric Rare Diseases, the center assesses clinically abnormal cases of rare pediatric diseases.
Speaking about the research center, director of ICMR-NIRRCH, Dr. Geetanjali Sachdeva, said, “Strengthening access to genetic testing and counseling 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.”
(Input from various sources)
(Rehash/Komal Bhoi/MSM)
