Want to know what type of rare genetic diseases you might get in futureIJ Of course, it is possible to know now, thanks to the scientists at the Council of Scientific & Industrial Research (CSIR)-Institute of Genomics Integrated Biology (IGIB) who have developed a unique DNA-based technology GOMED (Genomics and other Omics technologies for Enabling Medical Decision).
It can help clinicians to identify various genetic diseases such as Turner syndrome and Gaucher’s disease that an individual is suspected to get in future. In fact, the GOMED is already widely sought after by clinicians and over the short span of one year has been able to provide accessible genetic testing for over 500 patients who otherwise could not have afforded the costly tests.
The CSIR-IGIB, under the Union Science and Technology Ministry, which has developed the technology, after intensive clinical trials, is in talks with various diagnostic laboratories like Path labs and others to launch it on commercial basis and make it available to a common man.
Dr Anurag Agarwal, senior scientist at IGIB said that the present portfolio includes tests spanning over 80 genes and screening for mitochondrial disorders and is continuously updated. Presently, the IGIB is offering the genetic analysis services to its network of clinicians for the benefit of patients.
“In a short span, we have catered to over 500 patients from across the country through a clinical network encompassing over 25 major medical centres spanning the length and breath of the country,” he added.
The programme is funded through the Fast-Track Translation (FTT) programme of CSIR.
Dr Agarwal explained that it has been estimated that genetic diseases affect over 70 million Indians and a total of over 300 million worldwide. In majority of the cases, an appropriate diagnosis is not arrived at, due to lack
of general awareness on genetic diseases, absence of access and high cost of appropriate genetic diagnostic services.
For example, early genetic diagnosis and treatment of a large and increasing number of genetic diseases like achondroplasia, Turner syndrome and Gaucher’s disease in adulthood is also equally important as this could potentially prevent the transmission of genetic diseases to the future generations through counseling and or companion prenatal genetic diagnositics, Dr Agarwal added.