Roche GS Junior Sequencing System used in research on personalised tumour treatment

The Center for Human Genetics and Laboratory Medicine Dr. Klein and Dr. Rost, and IMGM Laboratories, both located in Martinsried, Germany, have reported using the Roche GS Junior Benchtop System to sequence clinically relevant exons and identify genomic variations in solid tumours treated with an antibody-based medicine.

This sequencing approach, easily expanded to complete coding regions, has great potential for personalised medicine, where individual treatment success is largely dependent on the mutation status of tumour genes. The high-quality long reads produced by the GS Junior System enable accurate and comprehensive analysis of the full range of genetic variations.

Personalised tumour treatments, such as monoclonal antibodies (mAb) that specifically target tumour-inducing proteins, require a precise and comprehensive assessment of an individual’s genetic profile for the targeted genes. Current therapies target only a limited region of the relevant tumour genes, whereas the GS Junior Sequencing System enables cost-effective and comprehensive profiling of all the relevant genes. In contrast, conventional capillary sequencing techniques often lack the sensitivity and cost-effectiveness to detect tumour mutations occurring at less than 20% frequency.

“The future of personalised tumour treatment lies in this sequencing approach,” said Dr Hanns-Georg Klein, CEO of both IMGM and the Center for Human Genetics. “Through our research, we’ve found that it’s critical to ensure a comprehensive analysis of a tumour variant population, including known and novel mutations.”

These findings underscore the utility of Roche’s GS Junior System for investigating complex tumour samples. The long, accurate sequencing reads are ideal for identifying multiple tumour mutations that can include structural variations and rare somatic mutations.