Advances in genetic testing technologies to open up new avenues in pediatrics

Genomics-based diagnostics and research firm MedGenome recently organized its continuous medical education programme on ‘Recent Developments in Medical Diagnostic Tests in Molecular Genetics” at the pediatric department, AMRI Hospitals, Kolkata


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The event was attended by a panel of doctors particularly child neurologists and nephrologists.

Dr Rajiv Sinha, pediatric nephrologist, said "It is believed that in the coming decade most of the aspects of medical science will be influenced by the rapid developments we are seeing in the field of genetics. The whole genome sequencing has opened up new avenues and genetic testing for various diseases which were previously prohibitively costly is becoming more affordable."

Whole genome sequencing generates large chunks of genomics data from a single genome.

With powerful bioinformatics tools and algorithms, the data is analyzed and interpreted to generate insights into underlying genetic reasons for human diseases.

Dr Braja Roy and Dr Atanu Jana from the AMRI team felt the need of applying genetics in neonatology and opined on the exciting possibilities that this brings in clinical practice.

"We are able to conduct whole genome and exome sequencing much faster now with the latest technology platforms," said Mr Sam Santhosh, CEO, MedGenome "This, along with insightful interpretation platforms helps us to meet the turnaround time requirements from clinicians, who are looking to dig deeper into a specific disease condition."

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