Comment on my Elsevier book chapter "The power of whole genomic sequencing in biomedical research and clinical applications"


October 07, 2023

This chapter provides a comprehensive overview of the emergence and advancement of genomic sequencing technologies and their application in biomedical research and clinical practice. It traces the evolution of sequencing methods from Sanger sequencing to today's high-throughput next-generation and long-read technologies. A key strength is the detailed description of various sequencing platforms such as Illumina, Ion Torrent, PacBio, and Oxford Nanopore, highlighting the unique capabilities and limitations of each. 

The chapter also thoroughly reviews how sequencing is transforming our understanding of disease biology through the discovery of genetic variants, biomarkers, and mechanisms of drug response and resistance. Numerous examples are presented of clinical trials validating genomic biomarkers for treatment selection in cancers like breast, lung, and colorectal. It's particularly insightful to see how early technologies like Sanger sequencing paved the way for clinical assays, while newer platforms continue expanding applications.

Where I see room for improvement is in tying together all the complex technical concepts for a broad audience. Some sections assume a level of molecular biology knowledge that may challenge non-experts. Adding visual aids could help illustrate sequencing principles and data analysis workflows. More discussion on ethical, regulatory and implementation challenges may also benefit the clinical context.

Overall, this is a very useful reference for anyone seeking an overview of genomic sequencing's immense progress and continued potential for precision medicine. The comprehensive scope and real-world examples provide valuable insights across research and medical applications. With some enhancement of accessibility, it could serve an even wider readership.