The Biologists and Clinicians Still Require Hand-Holding When it Comes to Sequence Data Analysis and Interpretation


Bioinformaticians are a bottleneck and at high demand. They are hard to find, hire, and retain, while typically being an expensive investment. This realization is not new, but has escalated with the sequence data explosion and now puts a huge challenge on commercial tool providers to build optimal analysis and interpretation solutions that will be embraced by biologists and clinicians, i.e. the non-computational scientists. Almost all commercial tool providers state that they offer a solution that is easy to use and requires minimal upfront training. However, reality shows that this is not generally holding true, and biologists/clinicians are still overwhelmed with most offerings in the field. If a solution is too “simplified,” it can’t provide the capabilities required to do a high-quality analysis on complex data. On the flip side, if the solution is too complex, it cannot be deployed and effectively used without training, which is what the field is experiencing. Furthermore, adequate support is not always readily available for researchers, which is understandable, as most tools are built with a low cost/high value approach in mind. Organizations tend to shy away from spending money and resources on many individuals that require a lot of “hand-holding” for a limited return. As a result, most solutions in the secondary analysis space predominantly target the bioinformaticians in large (sequence data) volume labs and not necessarily the biologists/clinicians. As an alternative, solutions like DNAnexus and Seven Bridges are designed with an open and flexible architecture, which targets the bioinformaticians and can provide one-button analysis pipelines to the non-computational biologists and clinicians. While this is a perfectly reasonable approach, reality shows that biologists and scientists still require training – typically by the bioinformaticians.

Tertiary analysis tools are more often built for the biologists/clinicians, with the risk however of being labeled as black boxes since they often do not provide optimal insights into how an analysis is performed – a common demand from researchers.

These are some of the findings discussed in the recently released “NGS Process Report”. This report is unique, in that it is not a predictive market research report, but rather builds on the data gathered from many end-user interviews and data available in the scientific literature. We’ve conducted a total of 19 end-user interviews, including with researchers from AstraZeneca, Biogen, Children’s Hospital of Eastern Ontario, Erasmus Medical Center, Memorial Sloan Kettering Cancer Center, Toma Biosciences, UCSF Medical Center, University of Minnesota, Stanford University, Texas A&M University, and VIB.

For a limited time only, apply Promo Code FIRST10 and get 10% off when purchasing the report – valid until July 31, 2016.

Download the Table of Contents to learn more about the report specifics.


enlightenbio’s NGS Process Report contains an analysis of the published scientific NGS literature, highlighting product preferences for sample preparation and sample sequencing, 28 interviews (19 end-user interviews and nine industry representative interviews), a deep dive ecosystem analysis of the NGS analysis and interpretation space, and profiles of companies in the market. The report is available from enlightenbio at: