Diagnosis of genetic diseases could now become easier. The Council of Scientific and Industrial Research’s Delhi-based Institute of Genomics & Integrative Biology (CSIR-IGIB) has decided to commercialise a set of 27 genetics tests it has developed over the years.
The Institute has entered into an agreement with Dr Lal PathLabs, which has a large network of diagnostic centres across the country, for licensing of the genetic tests. These tests are expected to be launched in phases over the year.
Though individually rare, genetic diseases cumulatively affect a large number of individuals. It is estimated that over 70 million Indians are affected. In majority of the cases, an appropriate diagnosis is not arrived at mainly due to lack of access and high-cost of appropriate genetic diagnostic services, apart from lack of general awareness of genetic diseases.
Apart from helping in providing immediate relief to those suffering from genetic diseases, a better diagnostic infrastructure could also potentially help prevent transmission of genetic diseases to future generations through counseling, prenatal genetic diagnostics and other measures.
With its rich expertise in the area of genomics and a wide network of clinical partners across the country, IGIB has also embarked on a unique outreach programme. Called GOMED (Genomics and other Omics technologies for Enabling Medical Decision), the programme provides a platform for clinicians to tap into the rich and varied expertise of CSIR-IGIB in disease genomics to solve clinical problems.
Through this effort, over 14,000 genetic tests have been carried out, benefiting about 4,000 patients through a clinical network encompassing over 25 major medical centres spanning the length and breadth of the country. These tests cover a variety of diseases/disorders including Movement Disorders, Motor Neuron Disease, Mitochondrial Disorders, Developmental and Inborn error of metabolism, and Leukodystrophies. The project is funded through the Fast-Track Translation (FTT) Research Programme of CSIR.
Dr. Girish Sahni, director general, CSIR, said the council was focusing on R&D pertaining to affordable health care through development of drugs, formulations and diagnostics. “The genetic tests licensed would provide much needed support system to doctors in diagnosing identified genetic disorders and would thus help the patients”, he said.