In a groundbreaking move to tackle rare diseases, India’s ICMR-National Institute for Research in Reproductive and Child Health (ICMR-NIRRCH) on Wednesday announced free genetic testing and counselling services nationwide.
The new Genetic Research Centre (GRC) will assess clinically abnormal cases of rare paediatric diseases as well as track origins of undiagnosed genetic disorders. It also aims to facilitate timely therapeutic interventions and provide critical support for both patients and their families.
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 data Ministry of Health and Family Welfare (MoHFW).
In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. With a very large population and high birth rate, and consanguineous marriage favored in many communities, the prevalence of genetic disorders is high in India. The Department of Biotechnology had launched in 2019, the UMMID initiative with an aim to to establish NIDAN Kendras to provide counselling, prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals wherein the influx of patients is more, to produce skilled clinicians in human genetics, and to undertake screening of pregnant women and newborn babies for inherited genetic diseases in hospitals at aspirational districts.
Under the ICMR project, NIRRCH centre with approval under the PCPNDT Act based in Maharashtra, plans nationwide services.
Dr. Geetanjali Sachdeva, Director, highlights the transformative impact on vulnerable sections of society. Dr. Shailesh Pande, Head of GRC, stresses raising awareness and enhancing testing accessibility to alleviate the societal burden of rare diseases, aligning with the national goal of universal healthcare access.
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.
“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 realise 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.
