Stephanie Bielas, an associate professor of human genetic at the University of Michigan medical school said, “without a genetic diagnosis, individuals with rare disorders can incur inappropriate care and medical procedures.”
“An accurate molecular diagnosis can dramatically improve care management of individuals with rare developmental disorders and involved treatments,” she said.
Working with her partners in AIIMS and KMS, the researcher has been building on technological and organizational infrastructure needed to improve access to genetic testing in the country for the last 4 years.
Advanced genetic tests are often out of reach of many Indian patients because of the cost, and also because it requires a multidisciplinary group of experts.
As per the study, seven out of 10 children in India having developmental disorders do not receive genetic testing and the families are not aware of such a medical treatment approach.
The study aims to give them an access to genetic testing and provide children with developmental disorders of genetic origin a molecularly confirmed diagnosis.