Updates on Genomic Sequencing

In the ever-evolving world of genomics, recent years have witnessed significant strides in sequencing technology. These advancements have led to continued cost reductions and wider adoption, driving the growth of personalized medicine.

Key among these developments is the progress in next-generation sequencing (NGS), with major industry players launching automated and innovative NGS platforms around 2022. The integration of artificial intelligence (AI) has further enhanced sequencing's role in healthcare, improving gene sequencing analysis and drug efficacy predictions.

Other notable breakthroughs include improvements in precision genome editing, thanks to refined CRISPR/Cas9 variants that enable better gene correction. Additionally, the development of cell-free systems has accelerated genetic testing and synthetic biology applications.

However, as costs continue to decrease, sequencing cores may face challenges due to increased overhead costs and the need to process more samples. The cost of a genome sequence is not the main barrier to adoption in the clinic, with logistics and reimbursement playing a larger role.

In the realm of RNA sequencing, a focus on low cost and high yield may be more important than the highest accuracy. Long-read sequencing has proven particularly beneficial in rare disease diagnostics, increasing diagnostic yield.

Niall Lennon, a notable figure in the field, has highlighted the introduction of new benchtop sequencers as one of the recent breakthroughs. Companies like Ultima and Roche have made significant announcements regarding new sequencing platforms.

The importance of speed, accuracy, and ease of workflow in sequencing varies depending on the research question. For instance, in the context of finding low-frequency mutations, accuracy is crucial to read through the background noise.

Innovation and competition continue to drive down the cost of sequencing, as evidenced by Claire Hartmann's remarks. PacBio has made advancements that allow sequencing from smaller sample amounts, thanks to their amplification library prep kit.

PacBio's SPRQ chemistry has also increased yield and lowered the required input, enabling sequencing of samples that couldn't previously be used. Niall predominantly uses PacBio technology for functional discovery and rare disease diagnostics.

Oxford Nanopore technology is preferred for sequencing samples from the field that may be degraded. Its suitability for direct RNA sequencing and detection of RNA modifications further broadens its applications.

Beyond sequencing, companies are developing multi-omics approaches, capturing other molecules and building assays to support a multi-modal approach. The sequencing landscape has seen numerous technological advancements over the last two decades.

Looking ahead, Bony has emphasized the need for new standards for tissue collections and storage, beyond formalin, and the development of smart storage preservatives that can preserve tissue integrity as well as nucleic acids. These advancements will undoubtedly continue to shape the future of genomics.