Expanding next-generation sequencing (NGS) in routine diagnostics

Why choose next-generation sequencing in the laboratory? What benefits does NGS provide over traditional diagnostic methods?

Next-generation sequencing (NGS) has enabled scientists and researchers 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 for early intervention and monitoring treatment response, ensuring patients get the best therapies possible. Compared with 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, 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; however, the costs and error rates in variant detection currently limit its use in routine diagnostic applications.

The significant barriers to the successful adoption of NGS include:

  1. Establishing and demonstrating both the diagnostic and economic value of NGS.
  2. The complex, multi-step, multi-day library preparation / target enrichment workflows involving labor-intensive manual processes. 
  3. Implementing complex methodology and demanding protocols.
  4. Managing the abundance of data produced by NGS.
  5. Standardizing bioinformatics analysis for more accessible data interpretation.
Automating routine NGS

As the demand for diagnostic NGS testing increases for diseases like rare genetic disorders and cancer, automation will be vital for the acceptance and adoption of NGS in routine practice. With the complex and time-consuming workflows, NGS automation systems with library preparation for sample analysis will help ensure that results are valid.

A key advantage of automating library preparation is that it enables diagnostic laboratories to produce error-free, reproducible results as well as allowing technicians to devote more time to value-added tasks.1 Using automation for NGS also lets laboratories incorporate multiple disease diagnostic tests onto a single system, significantly expanding the breadth of diagnostic panel offerings to clinicians and patients.

The future of routine diagnostics

To fully take advantage of NGS, a walkaway system that allows for multi-day protocols, without interruption or manual input, is required. This will allow laboratories to run the long and labor-intensive workflows throughout evenings and weekends, enabling a 24/7 work week – extending sample throughput and freeing up laboratory personnel. 

For the first time, a fully automated, pre-analytical liquid handling solution now delivers a self-contained system, requiring no supervision or intervention once a run is initiated. Automation of this scale would add significant cost-in-use benefits for the laboratory, as well as increasing reliability on quality control results for meaningful downstream analysis.

Roche’s commitment to NGS in routine diagnostics

The demand for routine diagnostics, such as cancer panel testing and non-invasive prenatal testing is increasing. To combat this, Roche is leveraging its expertise and innovation to develop high-throughput, cost-effective, automated NGS diagnostic and screening solutions, to increase laboratory efficiency and reduce costs.

By working closely with all stakeholders, including clinicians, payors, and regulatory authorities, Roche has the goal of providing patients with routine diagnostics through its NGS product portfolio to ensure patients are screened and monitored to receive the best care possible.


Unless specified otherwise, products are for Research Use Only. Not for use in diagnostic procedures.



  1. Hess JF. et al. Biotechnol Adv. Jul-Aug 2020;41:107537.