India with a huge population and known for endogamous and consanguineous marriages — within the same community or family — it is necessary for every married couple to undergo genetic testing for thalassemia since there is a chance of one in 30 to pass on the gene to the off-spring, said scientists of the CSIR-Centre for Cellular and Molecular Biology (CCMB) on Thursday.
CCMB has a full-fledged Genetic Diagnostic Centre within its premises where several options are there for families to get tested for various genetic diseases caused by mutations, which could manifest in the subsequent generations from silent carriers. These could be neurological diseases, cancers, sickle cell anaemia, spinal muscular atrophy and several others.
Early detection
“Most genetic diseases are incurable but can be managed or prevented with early detection and diagnosis. There is a chance for mutated gene to be carried into every pregnancy. Rare diseases occur in one or two persons in every 5,000, which means 70-96 million people are susceptible to carrying genetic disorders collectively putting a healthcare burden,” said scientist Surya Prabha during the ‘Open Day’ virtual presentation.
Genetic diseases could affect several generations in a family and any incidence of repeated pregnancy failures, failure to identify health issue despite numerous tests, hole in the heart, deformities during birth and the likes should be the alerts to seek genetic counselling and testing for identifying the disorders. While there are no curative treatments, about 800 of them can be managed with injections, transfusions and gene therapy available for four disorders, she said.
Various tests can be carried out during the pregnancy testing the fluids to check for the signs of any genetic diseases in the off-spring using cytogenetic, molecular and sequencing techniques. Hypertension and diabetes do not have a cure while tuberculosis is rampant despite medication being available, so there is nothing to be unduly alarmed about genetic disorders, the scientist observed, offering hope of advanced treatments available within 10-15 years.
Earlier, director Vinay K. Nandicoori said every year close to 10,000 students visit the campus for interacting with scientists and watching them work in labs during ‘Open Day’ programme but the pandemic has forced an online event for the second successive year and hoped for a return to normalcy next year.
CCMB has contributed a lot during the pandemic in terms of training for diagnostics, genome sequencing with 10,000 samples done so far, finding new diagnosis methods, taking up sewage and air surveillance, screening for drugs and so on. “It is amazing a vaccine was pulled out within a year’s time showing how science has transformed the human health sector,” he said and hoped youngsters interested in science and as a career will be piqued during these interactions across the weekend.
