Sponsored Content by Illumina, Inc.Reviewed by Olivia FrostSep 10 2026
Illumina spoke with its customer Marcel Nelen, head of the Genome Diagnostics department at the University Medical Center Utrecht (UMC Utrecht), one of eight academic centers supporting rare disease genomics research across the Netherlands. His team was among the first to evaluate Illumina’s TruPath technology. Marcel reflects on his experiences using this tool and what it could mean for genomics.
This interview discusses the impressions Marcel’s laboratory had upon first using this product; no data output was returned to customers, nor was the technology used in clinical testing.
Marcel, tell us about the work your team does
We work with an extensive range of rare disease research and collaborate closely with all academic centers across the Netherlands. Our mission is relatively straightforward: provide customers with answers as quickly and reliably as possible.
Why did you choose to partner with Illumina to test TruPath?
I’ve worked with Illumina for many years on several innovation projects. When I first moved into this new role in Utrecht, the discussion focused on emerging technologies, and TruPath came up. It looked promising and innovative, and we explored what this technology could enable.
What has the collaboration been like so far?
It has been a privilege to be one of the first to get to work with the technology. The results have been strong from the start.
What attributes of TruPath feel the most novel?
The most significant innovation is its ability to conduct library preparation directly on the flow cell, which significantly streamlines the workflow. Another key attribute is the ability to use native DNA for proximity-based phasing.
What surprised you most when using the system?
Its ease of use: even the first conducted experiment delivered clear and strong data. Eliminating the library preparation step lifts a major barrier.
Can you share a practical example from your evaluation?
One of the earliest samples we ran was a spinal muscular atrophy (SMA) family. Previously, we had been analyzing this locus for six months using long-read technologies. TruPath’s first run produced clean, accurate data.
How does the workflow compare to standard short-read and long-read approaches?
Long-read methods necessitate DNA shearing and size optimization, whereas TruPath uses native DNA, with phased blocks that are considerably larger - sometimes megabases. I have never seen that level of phasing before.
What do you see as the main benefits of TruPath data?
Phasing is the primary benefit: it can be difficult with short reads, and we often need to obtain parental samples. TruPath significantly reduces that need while offering major benefits over both PacBio and ONT in terms of phasing size and workflow ease.
How would adopting TruPath impact your lab?
There is potential to retire several of our current workflows. We have somewhere between 15 and 20 workflows today, a number of which require specialized skills or older technologies. TruPath could combine many of these into a simplified, more generic workflow. What’s more, the transition would be almost seamless as it runs on the same instruments and uses the DRAGEN environment.
What does your team think of the workflow?
They are eager and excited about the workflow because TruPath is easy to use, requires no additional equipment, and is naturally integrated into the lab’s existing setup. Early experiments for our non-invasive prenatal project have been extremely encouraging.
What problems could TruPath help you solve that are challenging today?
It could help us eliminate or significantly reduce the need for parental samples in recessive research cases, enhance structural variant detection, and facilitate reliable phasing.
Currently, we often run separate assays, such as inversion tests for genes like Factor VIII; TruPath could help replace some of these.
What changes have you noticed in working with Illumina over the years?
Illumina is now much more open with early access to technologies and cross-team collaboration. It’s also great that the instruments and sequencing quality remain as reliable as ever.
About Marcel Nelen
Marcel Nelen is the head of the Genome Diagnostics department at the University Medical Center Utrecht (UMC Utrecht), one of eight academic centers supporting rare disease research across the Netherlands. His team was among the first to evaluate Illumina’s TruPath technology. Marcel reflects on his experiences using this tool and what it could mean for clinical genomics research.
About Illumina, Inc
At Illumina, our goal is to apply innovative technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. It is mission critical for us to deliver innovative, flexible, and scalable solutions to meet the needs of our customers. As a global company that places high value on collaborative interactions, rapid delivery of solutions, and providing the highest level of quality, we strive to meet this challenge. Illumina's innovative sequencing and array technologies are fueling groundbreaking advancements in life science research, translational and consumer genomics, and molecular diagnostics.
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