Genomic testing has historically evolved around limitations. Different technologies were developed to answer different questions, and over time, laboratories built workflows that stitched those answers together. The result is a familiar pattern: multiple assays, multiple platforms, and multiple handoffs, each adding cost, time, and complexity. That model still works, but it is increasingly difficult to scale.
HiFi long-read sequencing introduces a different approach. Instead of assembling partial answers across workflows, laboratories can start with a single, comprehensive assay that captures a broader view of the genome from the outset. When combined with a platform that supports multiple applications, this shifts how labs think about efficiency, growth, and return on investment.
With PacBio systems, a single sequencing platform can bring you closer to answers faster, more clearly, and with fewer steps, clearly demonstrating the power of one: one test, one platform, and a simplified path to answers.
As advances like SPRQ-Nx chemistry improve the economics of HiFi sequencing, this model becomes increasingly practical, supporting more streamlined workflows and broader applications on a single platform.
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Moving from fragmented workflows to a unified approach with HiFi sequencing
Assay consolidation is often framed as a technical improvement, but its real impact is operational. In many environments like clinical labs, core facilities, and service providers, complex cases require running multiple assays and platforms to capture different variant types. Structural variants, repeat expansions, RNA and methylation patterns, and variants in difficult genomic regions are often addressed through separate methods, sometimes requiring investment in multiple platforms.
Each additional assay introduces friction. In clinical labs, each assay requires staff training, validation, and ongoing maintenance, and multiple assays result in multiple decision points that can delay turnaround time. Over time, this creates a system where cost per sample is driven less by any single test and more by the cumulative burden of keeping the entire workflow operational.
HiFi sequencing changes that equation by enabling a more complete dataset in one pass. The goal is not simply to replace individual assays, but to reduce the need for sequential testing altogether due to the ability to comprehensively call variant classes with long reads. In doing so, laboratories can simplify operations while also improving confidence in the results they deliver by starting with a dataset designed to answer more questions upfront.
Unified testing in practice
To quantify how a single HiFi sequencing assay impacts lab workflows in practice, researchers at GeneDx put it to the test in a recent study, applying HiFi whole genome sequencing to 191 probands enriched for difficult-to-detect variants that were previously tested with other technologies. Across this cohort, HiFi whole genome sequencing identified 99.6% of the 481 known pathogenic variants using a single workflow, even when applied to routine sample types not optimized for long-read sequencing like buccal samples or low molecular-weight DNA.
What makes this result notable is not only the detection performance, but what it replaces.
Many of the variants in this study would traditionally require multiple complementary assays, including short read exome or genome, targeted panels, PCR-based tests, microarrays, MLPA, or other specialized methods. In standard workflows, people often undergo more than one test before reaching a result.
Figure 3 from Devaney et al. (2026). Characterization of tests performed to reach a resolution for individuals in the cohort. A) The six most frequently used technologies to identify variants in the cohort. Numbers in parentheses indicate the number of individuals requiring the use of each technology. B) Distribution of the number of tests taken to achieve resolution in individuals with information on previous testing.
“The subset of individuals in this study originally tested at GeneDx received their diagnosis after a median time of nearly 1 month, with their samples undergoing more than one test on average to confirm the result. In contrast, in the context of this research study, we estimated a time frame of 5–7 days to generate results from HiFi.”
A consolidated approach not only shortens the path from sample to finding, but also provides additional layers of information, like phasing and methylation, without requiring separate assays. For example, in clinical lab settings, this can potentially help reduce diagnostic mysteries. For core facilities and service providers, it simplifies how projects are designed and executed,and reduces upfront investment in platforms to capture different variations. And for organizations managing cost and throughput, it introduces a more predictable model for delivering results. But overall, the implication is straightforward: fewer steps, fewer delays, and a clearer path to results.
How SPRQ-Nx enables cost efficiency without added complexity
Any shift toward consolidation must also make financial sense in practice. This is where workflow design becomes critical. SPRQ-Nx chemistry on the Revio system was developed to improve cost efficiency without changing how labs operate. By enabling multiple uses per SMRT Cell, it lowers sequencing cost by 30% per acquisition to approximately $345 per human genome, while maintaining consistent, trusted HiFi performance. At the same time, the workflow remains familiar, with no changes to sample preparation or automation, and the system handles SMRT Cell reuse automatically.
Consolidation only delivers value if it reduces complexity rather than adding to it. In this case with SPRQ-Nx, labs can streamline workflows and reduce repeat testing without introducing new operational burden through leveraging a single PacBio platform. The result is a more efficient process that aligns with how laboratories already work today.
Multiomic menu expansion with HiFi sequencing as a driver for utilization and growth
While consolidation improves efficiency per case, menu expansion addresses a different challenge: how to keep a platform fully utilized.
In many laboratories, demand is distributed across applications rather than concentrated in one area. A clinical lab may run rare disease cases alongside pharmacogenomics or carrier screening, while a core facility may support translational genomics research, microbiome studies, and transcriptomics within the same week. Service providers often see even greater diversity.
HiFi sequencing supports this range of applications on a single platform. This flexibility allows labs to expand their test menus without investing in additional systems, creating new opportunities to attract projects and increase throughput. Over time, this changes how revenue is generated, aggregating demand across applications, improving utilization, and creating a more resilient business model.
A more scalable path forward
Taken together, assay consolidation and menu expansion represent a shift toward a more integrated approach to sequencing. Reducing the need for multiple assays lowers operational burden and streamlines workflows, while a broader menu of applications improves utilization and supports growth. Across clinical labs, core facilities, and service providers, this shift creates a more efficient and predictable model for delivering results.
The economics of sequencing are evolving alongside these changes. The focus is shifting from managing the cumulative cost and complexity of multiple tests to maximizing the value of a single, comprehensive assay. HiFi sequencing brings these elements together on one platform, enabling labs to simplify workflows while supporting a wide range of applications. This represents a shift from stitching together tests to a simplified path to resolution, demonstrating the power of one in practice.