The prevalence of rare genetic disorders (RGDs) in India — home to about 90 million RGD-affected people — has redrawn the extent of ‘rareness’ associated with these diseases.
Inadequate early-diagnosis systems and staggeringly high treatment costs make RGD a complex challenge.
Bengaluru-based non-profit Tata Institute for Genetics and Society (TIGS) is partnering with the Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, to develop cost-effective RGD diagnostics, screening and treatment. CDFD, a Centre Of Excellence (COE) for rare diseases, is funded by the Department of Biotechnology, under the Ministry of Science and Technology.
The World Health Organisation estimates the prevalence of rare diseases at one or less per 1,000 people.
Rakesh Mishra, Director, TIGS, said endogamy (marriage among close relatives) contributed to higher RGD prevalence in certain regions of the country. The cases are largely reported among the marginalised and the poor and make news only when the affected families’ calls for help to meet the enormous treatment expenses go viral on social media.
Nearly 8,000 RGDs, most of them affecting children, have been identified globally. India has reported about 450 of them. The National Policy for Rare Diseases 2021 underlines a lack of awareness, research and public policy as major challenges. “Typically, it takes six to seven years for a proper diagnosis. By then, the condition of the child would have deteriorated drastically. Developing faster, affordable diagnostics will be crucial as we go forward,” Mishra told DH.
Spinal Muscular Atrophy, a disorder that weakens muscles and limits movement, Sickle Cell Anaemia, forms of primary immunodeficiency disorders, and myopathies and dystrophies that cause progressive muscular degeneration are some of the diseases classified under the RGD spectrum. About 95% of these disorders do not have any FDA-approved treatment.
Under the three-year MoU signed on April 18 by Mishra and K Thangaraj, Director, CDFD, the two organisations will use their clinical networks and research expertise to develop indigenous solutions. Collaborative projects on messenger Ribonucleic Acid (mRNA)-based therapies will also be taken up.
The national policy envisions the COEs including CDFD to conduct training, antenatal and neonatal screening for specified disorders, research in low-cost diagnostics and therapeutics and to identify treatment possibilities.
India’s RGD strategy is hindered by a lack of epidemiological data. The policy underlines the absence of therapies and the problem of “prohibitively expensive” drugs when they are available. Mishra said the treatment of some of the RGDs cost Rs 15 crore to Rs 20 crore. Primary testing itself can often cost more than Rs 30,000.
“These costs have to be brought down substantially to ensure large-scale screening. It is highly desirable to have extensive screening as we can then provide counselling to parents who are carriers. We can even have non-invasive procedures for prenatal diagnosis but all this requires some high-end science,” Mishra said.
While the problem is a reality and science does have the answers, it is now about bringing together the available competencies, he said.