To combat rare diseases in Maharashtra, the Indian Council of Medical Research’s National Institute of Reproductive and Child Health (ICMR-NIRRCH) will offer free state-of-the-art genetic testing and counselling services. With this, the ICMR-NIRRCH Genetic Research Centre (GRC) became the first government centre in Maharashtra which will be accepting referrals from prominent civic bodies, government medical colleges and hospitals in areas around Mumbai.
Rare diseases
Rare diseases are typically chronic and progressive medical conditions that pose life-threatening risks to those affected. According to the ministry of health and family welfare, India has 7.2 crore to 9.6 crore patients of 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.
"This will improve well-being of some of vulnerable sections of society"
Dr Geetanjali Sachdeva, ICMR-NIRRCH director, said, “Strengthening access to genetic testing and counselling for rare diseases will pave way for their early diagnosis and intervention. This will help improve the health and well-being of some of the most vulnerable sections of the society.”
According to the experts, children are most affected by rare diseases as several disorders have genitive basis. However, nearly 35% of the deaths resulting from genetic disorders in children occur within the first year of life, while 10% transpire between ages one and five, and 12% between ages five and 15.
"ICMR-NIRRCH’s aim is to address this problem by enhancing access to high-quality and free testing and counselling services. The centre also holds Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) Act approval for these services,” said an official from the state health department.
Dr Shailesh Pande, medical geneticist and of genetic research centre at ICMR-NIRRCH, said, “By reaching out to special schools, hospitals and public, we are striving to raise awareness around rare diseases. We are exploring telemedicine for counselling. But, the patients will have to come to us for the tests."
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.
