Next-generation sequencing (NGS) has enabled scientists and clinicians to better understand the genetic mechanisms linked to conditions in areas such as women’s health or in diseases like cancer and infectious disease. More importantly, these advances have given rise to improved diagnostics in the clinic for early intervention and monitoring treatment response, ensuring patients get the best therapies possible. Compared to first-generation sequencing and other popular diagnostic methods that are expensive and laborious, NGS has become widely accepted as the best tool for identifying subtle genetic differences in disease.
- The ability to rapidly generate large volumes of NGS sequencing data per run, together with a decrease in sequencing costs, allows for several advantages over traditional, more labor-intensive approaches.
- Additionally, NGS enables the sequencing of millions of fragments simultaneously per run and the detection of genetic variants for multiple genes in parallel. This is particularly true of short-read sequencing, which is extremely cost-effective and highly accurate for minor variant detection.
- On the other hand, long-read sequencing can resolve regions of the genome that are inaccessible to short reads, but the costs and error rates in variant detection currently limit its use in routine clinical applications.
While there have been significant technological and cost-effective advances in analyzing the genome with NGS, the method has not yet been widely used in routine clinical practice for diagnosis. This suggests that there remain many challenges and uncertainties that clinical laboratories, regulatory agencies, payers and other stakeholders need to address before NGS becomes standard for diagnosing diseases or biomarker testing.
The significant barriers to the successful adoption of NGS tests in pathology laboratories are:
- Establishing and demonstrating both the clinical and economic value of an NGS diagnostic test.
- Operating in a frequently evolving regulatory landscape for LDTs and uncertain reimbursement environment.
- Implementing complex methodology and demanding protocols.
- Managing the abundance of data produced by NGS.
- Standardizing bioinformatics analysis for more accessible data interpretation.
In addition to the above challenges, diagnostic companies require substantial investment to develop and validate the tests, without guaranteed laboratory adoption. The investment for a diagnostic company developing an IVD test on a Food and Drug Administration (FDA)-cleared platform can be upwards of $20-30M from validation through FDA approval.3