Next Generation Sequencing Is Improving In-Vitro and Laboratory Developed Testing for Diagnosis

Automation and massively powerful computers that can calculate in parallel are helping industries do more work with less effort and personnel. The medical field is no exception.

More and more of the healthcare decisions patients are making with their providers are going to be based on information found in genetic studies. Identifying problematic genetic sequences is the first step in coming up with therapies and new treatment modalities.

Indeed, clinicians and scientists now have access to better information while running tests for diagnosis, with next generation sequencing allowing for greater insight into diseases.

The genetic tools have a place in research institutions, labs, clinics, and other locations where timely access to comprehensive data is of the highest importance.

“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,” noted Roche.

Major Benefits of NGS From Diagnostician’s Point of View

You can generate huge amounts of data in an NGS system, while each sequencing run you conduct will cost less than earlier sequencing setups.

Scientists use NGS to simultaneously sequence millions of genetic fragments, with the system able to look for genetic variations in parallel while examining more than one gene at a time. If you are researching something that involves short-read sequencing, you’ll find it’s better on the budget as it boosts accuracy when searching for small variants.

Obstacles in Setting up NGS Tests in Pathology Laboratories

While there are clear benefits to using next generation sequencing in a laboratory setting, it can be a challenge for stakeholders in the organization to get buy-in for deploying such systems.

Roche notes that one barrier is establishing and demonstrating the value of using an NGS test for diagnosis. And given the unpredictable nature of potential federal legislation concerning the use of laboratory-developed tests or LDTs, organizations may hesitate to adopt the tools because of uncertainties about how they might be reimbursed for work.

Other obstacles include determining how to safely store, manage and analyze the torrent of information that NGS systems produce. What’s needed is a standardized way to analyze the bioinformatics, so that all concerned parties will be interpreting the data the same way consistently.

Routine Testing Can Yield Better Data With Advanced Tools

With NGS in place, routine tests for infectious diseases, cancer, and a whole host of women’s health issues will provide clinicians, doctors, and other researchers a treasure trove of data. With more data comes the ability to make better diagnoses and arrange for earlier interventions. So NGS feeding data into tests will be essential for finding genetic anomalies, even if quite subtle.

Automation Is Key for Harnessing NGS in the Clinic

When it comes to uncommon genetic diseases and ailments such as cancer, it becomes crucial for labs and other testing facilities to adopt automation tools for their next generation sequencing systems. “With complex, time-consuming workflows in NGS, automation systems with library preparation for sample analysis will help ensure that results are valid,” according to Roche.

One result of automating your library preparation in NGS efforts is that a clinical lab can develop reproducible results so other technicians can check they’ve achieved valid results. And with automation, you can conduct multiple tests to diagnose different diseases using the same system. This allows a clinic to offer more comprehensive services to more patients.

And the more that routine processes are handled by automated systems, the more time is available for workers to spend on more pressing tasks that use more of their knowledge, experience and abilities. That’s a win for patients as well as clinics and researchers.