Whole Genome Sequencing: the Game Changer in Cancer Precision Medicine

Professor Wasun Chantratita. PhD

Faculty of Medicine, Ramathibodi hospital, Mahidol University, Bangkok, Thailand


Disruptive technologies of next generation genomics and computational analyses have enabled exploration of somatic protein-altered mutations in most cancer types, with coding mutation data. However, there is limited information on somatic mutations in non-coding regions, including introns, regulatory elements and non-coding RNA. Structural variants and pathogen in cancer genomes remain widely unexplored. 

Until recently, as sequencing costs reduce drastically to  $US1,000 or even lower per whole human genome , and the tools to effectively analyse complex and big-scale data improve, the ability to effectively characterize whole genomes at scale in a clinically relevant turnaround time is now being started.  

Cancer whole genome sequencing detecting copy number alterations (CNA) and structural variants (SV), and epigenomic alterations with and without some hereditability (germline variants) often combined with RNA-Seq, immuno-genomic and clinic-pathological information have been used to understand cancer like never before.  We now have an ability to see tumors with big data created by disruptive sequencing technologies. Recently efforts are very focused on cell free tumor DNA/RNA, targeted genes. Currently single-cell approaches in which tumor cells are analysed separately or individually from enormous normal cells, and which has the power to detect rare cells with genomic features capable of powering re-initiation of the disease even after treatment. 

Certainly, the need of more sophisticated analysis tools and higher computing/processing capacity, along with cheaper storage and faster and more efficient big data transfer that must be overcome before precision medicine in cancer treatment finally becomes a reality. 

Centre for Medical Genomics, Ramathibodi hospital, teams up  with Faculty of Science and Faculty of Pharmacy, Mahidol university  utilizing these next generation genomics for characterization of both germline mutations in   white blood cell and somatic mutations in cell free DNA/RNA, circulating tumor cells, exosomes, including epigenomics, which will lead us to understand why  this tumor from the patient keeps coming back and how can we go from 50% response rate to 90-100% response rate of antitumor for cancer patients to live longer. Some cancers though never have a cure, but certainly we are going treat them to become a chronic disease.

Event Hours(1)

  • Convention Hall A

    10:50 am – 11:10 am

    Prof. Wasun Chantratita (Rama)