Understanding the Challenges and Benefits of Next Generation Sequencing in Clinical Environments

To date, as many as 14 countries around the world have established clinical environments where they are able to conduct next generation sequencing work. By the year 2025, analysts project that at least 60 million people worldwide will undergo genome sequencing, as noted by a report from the Journal of the American Medical Association.

However, as this is a fairly new technology that continues to grow and improve as it is used in more facilities, there is a call for more data. As the JAMA report’s authors explained, “Understanding how NGS is being used and paid for is critical for determining its clinical and economic benefits and addressing current and future challenges to appropriate implementation.”

What Do Scientists Use Next Generation Sequencing For in Clinics?

For the uninitiated, next generation sequencing refers to new technology that scientists employ to measure differences in genes, either at the moment of birth for monitoring populations and emerging disorders in children or for diseases that occur as people age, such as from viruses or cancers, per JAMA.

One of the major benefits of NGS is that it allows doctors and researchers a fast way to get vital data to help with public health research as well as individualized therapies. A drawback is that it involves a lot of data, but clinics and researchers from around the world are not collecting and sharing the information. Less information means it’s difficult to share innovations, and discovery will take longer.

With high-speed computers and massive storage, you capture NGS data and then sift through it to make rapid comparisons and spot interesting patterns in the genetic information. It’s essential for identifying unknown problems and discovering mutations in patients. The idea is that when you have a patient’s particular genome sequenced, it becomes easier to craft tailor-made therapies based on their unique genetic traits.

Today, companies provide NGS tests to support care in clinical settings and doctors will use next generation sequencing results to assess risks to their patients as well as diagnosis them or determine the most appropriate therapy available.

Unfortunately, there isn’t as much information out there now about who is using NGS and how they are implementing it to treat patients.

A Distinct Lack of Data About How Researchers Are Implementing Next Generation Sequencing

Unfortunately for curious researchers, today there isn’t a single repository of data about how institutions are implementing next generation sequencing in clinics. For the most part, detailed information is coming out of the United States. There is little or zero information of a similar nature available from any of the other developed nations with NGS capabilities.

Another limiting factor is that in the U.S., the peer-reviewed journals that publish results of NGS-oriented studies will often only include selected data from limited test runs. There is a gap in knowledge that will only continue to increase if scientific institutions large and small are unable to readily publish and share more details about their genetic sequencing data.

There is a lot of “gray literature” that contains a treasure trove of missing data, as noted in the JAMA report. You can find scientific data in white papers, for example, as well as in literature such as market analyses, filings for regulator agencies, reports in the news media, websites maintained by NGS technology companies as well as reports from international consortiums.

So there is some hope that more information will start to be channeled into comprehensive data reports concerning success rates with next generation sequencing.

With More Data Will Come More Insight Into NGS Efforts in Clinical Environments

Given the enormous amounts of data that must be captured in real-time and then stored and made available for members of the scientific team to study, analyze and compare, it’s critical to closely observe how these projects are turning out in research centers, clinical environments and anywhere else the technology is being deployed.