Researchers Take a Second Look at Traditional Technologies to Translate Genetic Research Discoveries

Advances in technology are crucial to making new discoveries and allowing us to do more in less time. Yet in the case of genetic analysis research, we are seeing that the discoveries and progress enabled by next generation sequencing (NGS) are creating new opportunities for other platforms, including qPCR and capillary electrophoresis (CE) sequencing.

NGS has transformed the study of molecular biology and genomics, and is now adopted in both research and, increasingly, the clinic. It has helped researchers uncover a wide range of predictive biomarker data. CE and qPCR are the ideal platforms on which to rapidly screen for newly developed markers, by taking advantage of their benefits in cost, throughput, accuracy, speed and reliability. Being well-established and familiar to the lab community also makes them readily accessible to all levels of technical experience.

CE sequencing continues to be the “gold standard” for many genetic analysis applications, including human identification and forensics, and is widely used as an orthogonal validation method to NGS. The Journal of Molecular Diagnostics recently published a paper on this topic underlying the importance of orthogonal confirmation on Sanger particularly for genomic complex areas (e.g., A/T- or G/C-rich regions). As a robust and comparatively inexpensive technology, CE sequencing and fragment analysis are effective tools for confirming or ruling out the presence of a single or a group of gene variants that may have clinical relevance. It is also ideal for resequencing segments of the genome after the initial NGS study.

Likewise, qPCR, which is automation-friendly and ideal for detecting and quantifying disease-causing microorganisms, is attractive to the diagnostic lab market. Here, it can provide a rapid yes-or-no answer for a number of targeted assays that do not require a large set of data points. It is also ubiquitous in the lab and easy to operate. Similarly, the biomarker discoveries made through NGS are feeding the content for a new generation of targeted panels that run on our qPCR systems.

The pharmacogenomics (PGx) clinical research field and studies in antibiotic resistance are prime examples of areas that have benefited from NGS-discovered makers. A recent article in Clinical Lab Products magazine demonstrates the value qPCR-based assays provided in a clinical research study that used Thermo Fisher Scientific’s Applied Biosystems platform to quickly test samples for 17 antibiotic-resistant genes.

We are experiencing this trend firsthand as we forge new partnerships and collaborations with customers interested in developing clinical assays on Thermo Fisher Scientific platforms. We recently announced our partnership with Health BioMed (HBM), which plans to develop molecular diagnostic (MDx) kits for infectious disease and pharmacogenomics screening to serve the China market.

In an effort to meet a critical need in the region, HBM chose to standardize their kits on Thermo Fisher Scientific’s Applied Biosystems™ 3500 Dx Capillary Electrophoresis platform for submission to the China Food and Drug Administration (CFDA). Likewise, Siemens Healthcare Diagnostics earlier this year also announced its decision to integrate Thermo Fisher Scientific’s Applied Biosystems™ Real-Time PCR platform into its VERSANT kPCR Molecular Solution.

The combined workflow will offer laboratories Siemens’ complete molecular testing solution, which helps ensure leading-edge performance from extraction through detection. With others on the way, these are just a few examples of how our partners are deploying relevant content discovered using new technology, on trusted platforms to provide robust solutions that improve human health.

As we continue to enable our customers in basic research through the emerging field of precision medicine, multiple solutions will be required to achieve the goals of improved human health. It is just a matter of choosing the right tool for the application. And while new technologies can provide major advances, it is when they are combined with complementary and trusted platforms that the complete solution emerges.