How Sequencing Advances Are Unlocking Deeper Genomic Insights
Dr. Cande Rogert discusses how TruPath Genome is simplifying sequencing and unlocking long‑distance genomic insights.
At the recent Advances in Genome Biology and Technology (AGBT) conference, Illumina introduced TruPath Genome, a new whole‑genome solution designed to deliver long‑distance genomic insights while eliminating traditional upfront library preparation.
Technology Networks spoke with Cande Rogert, vice president and global head of advanced science at Illumina, to discuss the scientific advances behind TruPath Genome and the workflow challenges it addresses.
In this interview, Rogert also highlights early applications generating strong interest, shares examples of how TruPath Genome is already resolving complex genomic regions, and offers her perspective on how innovations in multiomics and high‑resolution sequencing could influence the future of genomic research and clinical translation.
From your perspective, what were the most important themes or shifts that emerged at AGBT this year, and how do they reflect where sequencing is heading next?
Cande Rogert, PhD (CR):
This year at AGBT, the industry was most excited to hear about advances that will drive improvements in accuracy, specificity, output, and speed across sequencing technologies, but also in all other areas (for example, spatial biology and other omics). This is ultimately about unlocking crucial breakthroughs in science and medicine, and as researchers and clinicians continue to push the boundaries of genomic insights, sequencing advances are enabling them to do more.
It was also clear that cost per genome is no longer the only driver for customer choices in sequencing. Researchers don’t just want to hear specs—they want to know how technology will amplify the impact of their science, unlock new insights, and accelerate their next breakthrough discovery.
AM:
CR:
TruPath Genome is a solution that unlocks
our most accurate and comprehensive genome today. By eliminating the
traditional up-front library preparation, it provides a stunningly simple
end-to-end research workflow that has “wowed” our customers.
It also unlocks long-distance insights,
providing a more comprehensive view of the genome, enabling long-distance
phasing, detection of complex structural variation, analysis of cyto-scale
abnormalities, and doing all of this in a configuration that is significantly
more cost-effective and scalable than alternative technologies.
AM:
CR:
We’re seeing strong interest from customers across the continuum from research to clinical. In the area of clinical research, interest from the rare genetic disease community has been particularly exciting because TruPath Genome has the potential to help end the diagnostic odysseys patients often face on their journey to diagnosis.
Beyond rare disease research, there is significant interest in investigating the application of TruPath Genome in broader cytogenetics contexts as well as in prenatal samples with challenging DNA inputs. The long-distance genomic insights and simple workflow on an instrument (NovaSeq X Plus) that many of these customers already have is viewed as a “game changer.”
AM:
CR:
First, this technology eliminates
traditional library preparation, so it significantly reduces hands-on time and
labor, and it’s so easy that no real laboratory experience is required.
Then, through the combination of novel flow
cell technology and advanced informatics analysis pipelines, TruPath delivers
insights reflecting ultralong phasing, complex and balanced structural
variants, short tandem repeats, and clinically relevant paralogous genes.
TruPath Genome fully phases over 98% of
genes, using the NovaSeq X Plus without the need to invest in any specialized
equipment.
AM:
CR:
While whole-genome data is fundamental to genetics, a deeper understanding of biological processes and environmental responses requires integrating multiomics information.
While genetic variation highlights promising research directions, it's multiomics that validates the insights gained from genetic data by providing confirmation. For instance, variant prediction tools might flag a variant as potentially associated with a genetic disorder, but integrating transcriptome or methylation data can help validate this finding.
Similarly, an unusual or outlier signal in a multiomics readout, such as an unexpected abundance of a particular protein or group of proteins, can prompt investigators to narrow their focus when examining the genome.
TruPath Genome—along with Illumina’s entire portfolio of multiomics solutions—operates on the NovaSeq X series that researchers already rely on, and this makes it much easier for researchers to integrate in the lab. They don’t have to purchase point solutions for each ome—they can do all of their work on the X. This is one of the many ways we are delivering increasing value over time to our customers.
AM:
CR:
I think we could see an explosion in multiomics and multimodal analysis. The technologies are finally here to enable these insights to scale up—so researchers won’t be limited by tools any longer. Customers will be free to interrogate biological samples across the multiomics continuum, extracting and integrating insights from genotype to phenotype and across different modalities from bulk tissue or blood to single cells in a spatial context.
In spatial technologies, we will start seeing longitudinal, whole organ studies, billion cell experiments for understanding the effects of genomic perturbation, large cohorts where methylation state, proteomics, and single-cell are combined into one. We have brought the technologies to the scale and total end-to-end cost that enables these things to be a real possibility now.
As oncology continues to evolve, we’ll also likely see an increase in ultra-sensitive applications for early cancer detection or monitoring. We’re bringing greater sophistication to the NovaSeq X over time, as our customers keep coming up with new and important ways to apply sequencing to clinical and research challenges. We’re innovating to keep up with their needs, and it’s exciting to see what that could unlock in areas like cancer detection, rare disease, and cancer biology.
The introduction to this interview includes text that has been created with the assistance of generative AI and has undergone editorial review before publishing. Technology Networks' AI policy can be found here.
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