Roche Sequencing Solutions: Breaking the Barriers to Personalized Healthcare

Hugo Lam, Head of Bioinformatics Research and Early Development

In the era of personalized medicine, next generation sequencing (NGS) has grown in prominence to enable identification of targeted therapies and medical treatment options that are tailored to individual patients.

At the heart of NGS lies the ability to accurately detect an individual’s unique risk to diseases. With powerful and sophisticated computational algorithms, Roche Sequencing Solutions has led industry-recognized efforts to deliver bioinformatics solutions that analyze and interpret complex genomic sequencing data.

“Genomic analysis software is part of our portfolio of end-to-end, integrated NGS solutions that streamline the entire genomic sequencing workflow,” says Christine Bakan, Global Head of Software and Bioinformatics at Roche Sequencing Solutions.

A closer look at the novel AVENIO ctDNA Analysis Kits highlights the value the company has been delivering to the market since its inception. The ctDNA Analysis Kit portfolio consists of three NGS liquid biopsy assays for oncology research—the AVENIO ctDNA Targeted Kit, the Expanded Kit, and the Surveillance Kit. As the first blood-based distributed oncology test kit covering all four mutation classes, including all reagents, bioinformatics, and software to make ctDNA testing accessible to NGS laboratories, the kits are capable of providing highly accurate insights into different cancer stages and types.

Roche Sequencing Solutions delivers high-quality, innovative bioinformatics solutions to interpret patients’ genomic data, making NGS simple and accessible for routine clinical usage

One of the breakthrough achievements in these kits is the use of sophisticated bioinformatics to detect low-allele frequency mutations.

In addition to delivering groundbreaking bioinformatics solutions and products, Roche Sequencing Solutions has also gained high industry regard for its contributions to the scientific community. The company’s scientists have authored articles in peer-reviewed journals on both ongoing research and emerging technologies to empower the community with expanded knowledge in gene sequencing and bioinformatics.

Recently, Roche Sequencing Solutions published a paper in the Bioinformatics journal on a software framework that simulates sequencing data according to the characteristics of third generation, single molecule sequencing technologies. Other notable publications include a paper on a machine learning-enabled ensemble approach for improved detection of somatic mutations and a comprehensive study of RNA-seq analysis, featured in Genome Biology and Nature Communications respectively. The company also actively participates in open scientific consortia such as NIST’s Genome in a Bottle and the FDA’s SEQC2, adopting and sharing best-in-class practices in bioinformatics.

Developing and commercializing NGS solutions for routine clinical use is no easy feat. As a leader in biotechnology, the Roche Group is passionate about transforming patients’ lives. With breakthrough science, Roche is delivering solutions that address patients’ needs from clinical diagnostics to medicine.

“Our mission is doing now what patients need next,” says Hugo Lam, Head of Bioinformatics Research and Early Development at Roche Sequencing Solutions. “Through our innovative offerings, we are broadening access to genomic data and effectively reducing the biggest barriers to personalized healthcare.”