We are glad to announce that Ramakrishna Mission Vivekananda Educational and Research Institute (RKMVERI) will be conducting a special colloquium on “Application of Genomic Sequencing Technologies: Genetic Molecular Diagnostics of Rare Diseases and Cancer” on 07 February 2025, 12 Noon at Seminar Hall, Narendrapur Campus.

Speaker : Prof. Santasree Banerjee, Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, China
Co-ordinator: Prof. Abhijit Chakrabarti

Abstract

Genome sequencing technologies are becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Genomic sequencing technologies are majorly classified into four types, i.e. whole genome sequencing, whole exome sequencing, targeted exome capture based gene panel sequencing and single gene sequencing. Compared to other molecular genetic methods, whole genome sequencing and whole exome sequencing captures most genomic variation and eliminates the need for sequential genetic testing. Whereas, the laboratory requirements are similar to conventional molecular genetics, the amount of data is large and it requires a comprehensive computational and storage infrastructure in order to facilitate data processing within a clinically relevant timeframe. The output of a single whole genome sequencing and whole exome sequencing analyses is roughly 5 million of variants and data interpretation involves specialized staff collaborating with the clinical specialists in order to provide standard of care reports. Although the field is continuously refining the standards for variant classification, there are still unresolved issues associated with the clinical application. Advances in variant detection technology have evolved in recent years, leading to accelerated causal gene discovery and understanding of genomic lesions in rare disease/cancer cohorts. After preliminary confirmation of the disease through clinical, laboratory and radiological examination, clinicians can order further diagnostic testing, which is influenced by initial findings and availability and access to resources. The range of potential lines of inquiry include but are not limited to: karyotyping to identify gross chromosomal abnormalities; chromosome microarray (CMA) to identify deletions, duplications, loss of heterozygosity, and aneuploidy; and genomic sequencing (target-based sequencing of a gene panel, clinical whole exome sequencing or whole genome sequencing) to identify disease-causing variants. In the future, more refined cellular and molecular studies are required to understand the disease mechanisms. In conclusion, our research emphasizes the significance of genomic sequencing technology for molecular genetic diagnostics in rare disease/cancer patients, thus laying the groundwork for future research focused on studies that will identify new candidate genes and disease-causing variants, which in turn will allow us to develop novel therapeutic interventions.