The major strength of next-generation sequencing is that the method can detect abnormalities across the entire genome (whole-genome sequencing only), including substitutions, deletions, insertions, duplications, copy number changes (gene and exon) and chromosome inversions/translocations. A major strength of next-generation sequencing is that it can detect all of those abnormalities using less DNA than required for traditional DNA sequencing approaches. Next-generation sequencing is also less costly and has a faster turnaround time.
There are several limitations to using next-generation sequencing. Next-generation sequencing provides information on a number of molecular aberrations. For many of the identified abnormalities, the clinical significance is currently unknown. Next-generation sequencing also requires sophisticated bioinformatics systems, fast data processing and large data storage capabilities, which can be costly. Although many institutions may have ability to purchase next-generation sequencing equipment, many lack the computational resources and staffing to analyze and clinically interpret the data.
Time and costs
The time to perform most next-generation sequencing methods and receive results has been greatly reduced. Starting from the day the laboratory receives the tumor specimen, it takes approximately 10 days for a physician to receive a whole-genome sequencing report.
Costs of sequencing the whole human genome have decreased significantly over the last decade. In 2006, the cost was approximately $20 million to $25 million. In 2016, the cost to sequence the human genome is generally less than $1,000.
Thank you for participating in this module. Click below to download the certificate.