Working towards Genetic testing diagnosis for Indian children
A top American university will expand genetic testing in India in partnership with the All India Institute of Medical Science in Delhi and the Kasturba Medical College in Manipal. The grant of $ 2.3 million from the National Institute of Health to the University of Michigan and Indian geneticists will be used for the research and expand genetic testing in India. The partnership is expected to help the geneticists in identifying and confirming that genetic changes are the basis of developmental disorders.
This genetic discovery will provide a better understanding of the human genome and differences in inherited developmental disorders. In India, many children with developmental disorders do not receive genetic testing, so this partnership expects to provide children with greater access to genetic testing diagnosis solutions. Advanced genetic tests like exome sequencing are costly, so many Indian patients cannot afford it. This study will be beneficial for them to diagnosis genetic disorders.
Research study on genetic diagnosis solution
Stephanie Bielas, Associate Professor of human genetics researching with her partners in AIIMS and Manipal College, are developing the technological and organizational infrastructure needed to improve access to genetic testing.
These researchers also want to establish an accessible database that can be shared with other scientists and institutions for research and to contribute to the responsible development of genomic medicine in India and beyond, the university said.
The study aims at giving these families access to genetic testing and also provides a molecularly confirmed diagnosis to the children with developmental disorders of genetic origin.
“An accurate molecular diagnosis can dramatically improve care management of individuals with rare developmental disorders and involved treatments. Without a genetic diagnosis, individuals with rare disorders can incur inappropriate care and medical procedures.” said, Stephanie Bielas, at the U-M Medical School.
