Abstract
The ongoing evolution of next-generation DNA sequencing (NGS) technologies has dramatically transformed the practice of genotyping in basic research. Faster and more efficient instrumentation has led to the decipherment of entire human genomes in just a fraction of the time as compared to even only five years ago.
In addition, companies such as Illumina have developed NGS systems that have made good on the promise of the $1,000 genome, thereby making this technology clinic ready. Well, almost.
As our webinar demonstrates, despite technical advances questions remain on whole genome sequencing, exome sequencing, and other types of NGS methods. For example, the clinical effectiveness of genomic testing remains largely unknown. There is also a general consensus that further quality improvements are needed for all clinical NGS tests. It's also been estimated that, excluding cancer, only about 2% of the U.S. population has a genetic disease.
All this being said, and as the Mayo Clinic's Dr. David Smith points out in the accompanying audio file, cancer be will the first wide-scale focus of NGS testing because the costs of treatment are so high. Dr. Smith believes that NGS' ability to optimally stratify patients for therapy will result in huge financial savings and render NGS reimbursable for cancer applications.