Life Sciences & Biotechnology

Title :

Development and Pilot Implementation of a Genetic Information Access and Analysis System for Genetic Diseases

Area of research :

Life Sciences & Biotechnology, Medical Sciences

Focus area :

Genetic profiling of a target population

Principal Investigator :

Dr Sridhar Sivasubbu, Scientist, CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB), New Delhi

Timeline Start Year :


Timeline End Year :


Contact info :


Executive Summary :

Objective: I. Implementation of the lndiGenome card, mobile/web application to capture and report the genetic variants in volunteers/ patients. II. Genomic testing for 1000 individuals suffering from/carrier for a genetic disease. Ill. Get user feedback on features from stakeholders -patients/clinicians/diagnostic companies and patient support groups and enable improvements of features into a stable application. IV. Commercial piloting of the application framework with select entities. V. Setting up of consultations/ panel on ethical and legal aspects on genome scale testing and communication of results on ICT platforms.

Summary: As genomics and genomic testing becomes ubiquitous in healthcare settings it is imperative to have a platform which enables secure access to relevant genomic information preserving the privacy and ensuring the ease of use. This is more relevant in a scenario where an individual goes through multiple genetic testing in the course of his normal life or disease state and in the context of continuously emerging evidence. The major challenge would be to make the genomic reports portable, and relevant at the same time. While it would be logistically impossible to carry genome sequences in digital formats and make it amenable to re-analysis in clinical settings, a cloud based systems and architectures today offer a unique opportunity in this space. The lndiGenome Card and accompanying cloud application offers a platform for accessing and portability of genomic information or genetic results through a scalable platform and accessible over a variety of interfaces. The lndiGenome card and application provides access to clinically relevant information at point-of-care while ensuring privacy and data security, which are vital for personal genomics to be implemented at scale. This project envisages the creation of a cloud based platform providing access to clinically actionable genetic information based on genome scale datasets of individuals/ patients suffering from I carriers of rare genetic diseases I traits along with the clinical and genetic counseling network for the provision of ethical and clinically relevant interpretation and actionability to the genetic information. The platform would be a Software as a Service utilizing cutting edge pipelines for analysis and data interpretation in a clinically relevant format and compliant to the guidelines for evidence based interpretation of genetic variants in a relevant format.

Organizations involved