Releasing the bottlenecks in sequencing industry

Next-generation sequencing (NGS) technology has revolutionized biomedical research in the recent times. Techniques like whole exome sequencing have led to a new era of target-based personalized treatments and its impact is conspicuous in the field of molecular diagnostics. From genotyping, detecting variants, identifying single-nucleotide polymorphism (SNPs) in cancer profiles, enabling early detection of genetic disorders to monitoring disease progression, NGS combined with concurrent bioinformatics tool, has become invaluable in medicine research. HiMedia headquarter at Mumbai has an NABL-accredited HiGx360® sequencing and bioinformatics laboratory set up in its molecular biology wing – HiGenoMB®. HiGx360® is a complete portfolio encompassing Sanger as well as next-generation sequencing services, including whole-genome and whole-exome sequencing, transcriptomics, microbiome sequencing, and a lot more. It also addresses the concerns of data analysis with a state-of-the-art bioinformatics data center. With the best sequencing systems in place, our experts offer complete end-to-end service ensuring low-cost sequencing, higher throughput data, greater scalability, and faster turnaround time (TAT).

As promising as it sounds, this industry is still undergoing expansion. The major bottlenecks in the sequencing industry are in terms of cost effectiveness and quality of service due to unavailability of sequencing-grade nucleic acid extraction kits and library preparation kits. Pricing of nucleic acid extraction kits is a major concern as one needs ultrapure DNA and RNA to obtain meaningful sequenced data. HiPurA® extraction kits can purify nucleic acid from a broad spectrum of samples and provide reproducible data. Techniques like whole-genome sequencing also generate a large amount of data that is redundant. It is, therefore, important that these kits produce unbiased data by purifying the broadest portion of the genome, thereby allowing equal opportunities for gene selection. Another concern being addressed is the availability of extraction kits. We also offer InstaNX® Mag series of automated extraction platforms that would help improve the overall quality of DNA and RNA extraction. We believe releasing this bottleneck is a key to democratization of sequencing, which in turn will reduce the cost.

Library preparation kits for sequencing are typically a panel of primers and probes that aid in selective enrichment of the gene of interest, thereby allowing one to study the expression profile of a particular gene panel. However, these kits are very expensive with very few choices in the market. This limits the ability of the user to explore. While the end user needs the right kit that will select a wide range of sequences within the panel, one cannot go for multiple library prep kits due to the cost factor. HiMedia has launched a series of library preparation kits that are affordable and readily available and aim to break through this bottleneck in the near future. These kits will majorly target oncology, inherited and infectious diseases, such as for HPV genotyping, TB whole-genome sequencing, panel for AMR detection, cancer panel, etc.

A huge amount of data is generally acquired in a single next-generation sequencing run; however, generating insights for downstream applications requires the data to be analyzed with the right bioinformatics tools. Very often, people end up with very high quality sequencing data and reports from closed source software, which are light in insights and depth. Additionally a lack of appropriate state-of-the-art cutting-edge bioinformatics tools in these software proves to be an insurmountable barrier. At HiGx360 one can avail bioinformatics services for not only sequenced samples but also for their previously sequenced data, and get an information rich interactive report within a stipulated period of time taking them from data to insight.

All in all, we aim to break the shackles of the sequencing industry with our HiGx360® services that are upgraded from time to time to address key requirements whilst providing the best service.