Title : Why the $100 genome represents an important technological singularity
Recent advances in next generation sequencing has resulting in astounding increases in the amount of DNA sequences that can be simultaneously obtained at dramatically decreased cost. For many years a stated goal of advanced sequencing technologies was to bring the cost of generating a complete human genome sequence to $1,000. The advent of the Illumina NovaSeq has brought the cost of just the sequencing portion of whole genome sequencing (WGS) to $375, but complete WGS also requires library preparation, sequence alignment, and subsequent data analysis which all together still costs much more than $1,000. There is a new sequencing platform from BGI which in the next few years will be able to offer total WGS for a cost of just $100! I have been using next generation sequencing technologies since they were first developed to study the molecular alterations during cancer development. My current research involves the study of how human papillomavirus (HPV) is involved in the development of different types of cancer. While HPV is usually associated with anogenital cancers, it is increasing found in oropharyngeal squamous cell carcinoma (OPSCC) and this year the incidence of OPSCC has exceeded that of cervical cancer in the United States. Working in close collaboration with scientists at BGI we have been analysing WGS of HPV-positive OPSCCs. This work has revealed important information about the physical status of HPV in different OPSCCs and has demonstrated that HPV plays different roles in the development of different OPSCCs. We are currently using the information from WGS of these cancers to study the different mechanisms whereby HPV infection causes cancer. We have also found information from WGS on these cancer patents that could have imporatn clinical relevance. This work demonstrates the power of WGS on clinical specimens from cancer patients that should transform how we treat all cancer patients in the very near future. However, the impact of these technologies extends far beyond the treatment of cancer patients. I will thus also discuss the impact of having the cost of WGS drop below $100 not just for cancer patients but for all individuals. These technologies therefore represent an important singularity that will dramatically transform our world.
Audience Take Away:
- A short history of the different next generation sequencing technologies
- How current technologies can be used to address basic fundamental biological questions
- The important clinical impact of this on the treatment of cancer patients
- The changes that being able to generate complete genome sequences for individuals will have on all aspects of our lives and why this represents an important technological singularity.