Growing capacity, taming complexity in the genetics lab
Next-generation sequencing (NGS) has energized the field of genomics and molecular medicine. The affordability of NGS has made it more popular and more accessible for genetic testing. By some counts NGS tests account for 40 percent of new genetic testing market growth.
It’s definitely true that NGS has enhanced the potential for bringing the value of genetic testing to more applications. But labs looking to begin or expanding genetic testing should not be misled by praises for NGS efficiency. NGS is faster and more cost-effective than previous technologies, but it is still fairly complex.
Consider the average workflow of routine pathology lab. Tests typically have two or three steps, and processes are well established and unlikely to change. But in the evolving field of genetic testing, research continues to optimize complicated processes. That means the sample processing procedures in a molecular lab, which can be 10 or even 20 steps, may change multiple times. Manually tracking these processes is labor-intensive and an invitation to error. Add in the challenge of tracking a sample as it is split and recombined across multiple plates multiple, and no notebook or spreadsheet is up to the task.
The amount of information needed to make sound variant interpretations can be equally complicated. As genetic testing has become more widespread, the knowledge base for interpretation has grown dramatically. New literature with data on genetic variants has increased six fold in the last 15 years. Currently more than 100 new publications are released each month. That’s great news for molecular diagnostics: better information is key to better clinical decisions. For labs, the deluge of new medical knowledge makes accessing the right research at the right time more challenging—and more important.
The key to addressing these challenges is automation. The right informatics solutions, judiciously deployed, can manage not only the complexity of genetics labs but also increase their accuracy and allow labs to scale as genetic testing becomes more and more prevalent. Informatics can guide the processes of genetic testing from inventory and sample management to analysis, variant filtering and report generation. Automation of these functions leaves lab techs and genetic counselors free to do the most important parts of their work.
As an increasing number of healthcare facilities offer genetic testing to keep up with clinical demand, choosing flexible, scalable informatics solutions will be an important way that they can set themselves apart and have confidence that they are fully taking advantage of the possibilities of NGS testing to provide their patients the best care.
For more information on choosing solutions to enhance your lab’s molecular capabilities, download our white paper Build or Buy: Optimizing Informatics for Genetic Testing.