We just wrapped up a dynamic and rewarding 2024. Hence, we want to take a moment to celebrate key milestones that have set the stage for our next chapter. This year, we pushed our solutions to new frontiers in clinical genomics. Here are the major accomplishments of last year:

1. Pharmacogenomics: releasing VSPGx entering into a new class of genetic tests supported by Golden Helix

• CPIC guidelines: support for CPIC guidelines and beyond.
• Clinical Reporting: Support for a number of different clinical reporting schemas.
• Multiple Sequencing Platform: We allow the import from multiple sequencing platforms, from microarrays to short-read and long-read sequencing.

2. Oncology: CancerKB 4.0 represented a significant leap forward in our mission to streamline somatic variant analysis across both blood cancers and solid tumors. This update introduced:

• Enhanced curation to keep pace with rapidly evolving cancer research.
• Improved automation for variant interpretation and reporting, reducing turnaround times for labs.
• Seamless integration with our existing tools, making it even easier for clinical users to adopt, scale, and deliver high-quality insights to clinicians and patients.

3. Long-Read Sequencing: We vastly improved our support for long-read sequencing

• Phasing: Utilize variant phase information to explore potential compound het variants and the combined effect of nearby variants.
• Enhanced Compound Het support:  Utilize variant phase information to explore potential compound het variants and the combined effect of nearby variants.
• Methylation Support.

4. Regulatory Compliance: Golden Helix was certified based on  ISO 13485. Also, we received the CE Mark for the European Union for VarSeq Dx. This achievement:

• Validation: Validates the rigor of our internal processes and quality management systems.
• Efficiency: Streamlines customer adoption in regulated markets, reinforcing our leadership in clinical-grade genomics solutions.
• Assurance: This demonstrates our promise to keep pace with global compliance requirements so labs of all sizes can trust Golden Helix for the long haul.

These advancements affirm our commitment to quality, regulatory alignment, and the ongoing pursuit of cutting-edge technology for our customers. Now, our focus turns to the exciting possibilities awaiting us in 2025.

Our Focus for 2025

1. VSPGx: Elevating Pharmacogenomics
Pharmacogenomics (PGx) continues to gain traction in precision medicine as labs seek to reduce adverse drug effects and personalize treatment for each patient’s genetic profile. In 2025, VSPGx will be at the forefront of our product roadmap, featuring:

• Extended assay coverage: Capturing more relevant gene/drug interactions to broaden diagnostic and research applications.
• Automated workflows: Supporting labs transitioning from microarray-based PGx to more comprehensive NGS approaches enabling high throughput scenarios.
• Ease of integration: We plan to enhance our ability to work seamlessly with EHR systems, LIMS platforms, and our own interpretation modules, increasing efficiency.

2. Cancer: Deepening Our Oncology Focus
Building on the success of CancerKB 4.0, we will broaden our oncology product suite to address emerging cancer biomarkers, refine cancer variant classification, and deliver a continuously improving user experience for labs tackling complex cancer panels and exome tests. With regulatory-ready workflows and a wealth of curated data at customers’ fingertips, we aim to:

• Data Curation: Enhance our curated knowledge base for the growing volume of oncogene data.
• Clinical Reporting: Expand clinical reporting templates to meet global guidelines and reduce manual overhead.
• Partnerships: Foster more partnerships and collaborations to keep labs informed of the latest therapeutic insights.

3. Bring Your Own Cloud (BYOC)
As labs scale up their NGS testing, data storage and compute resources become critical bottlenecks. Our BYOC strategy empowers customers to:

• Data Management: Securely host their data on preferred cloud platforms while leveraging the full Golden Helix toolset.
• On-Demand: Scale compute capacity for bursts of analysis
• Compliance: Maintain compliance by ensuring data remains under the lab’s control, fulfilling regulatory requirements, and addressing data sovereignty concerns.

4. Innovative Business Model
We are in a unique position to support a number of very exciting ways to do business with us. I want to highlight the most important aspects. Please talk to our team if you are interested in more details:

• Standard SAAS licensing model: We offer our solution on a subscription basis based on selected features and number of users. It’s, in essence, a fixed annual fee that is easy to budget for. This is a proven and tested way to work with us.
• Usage-based licensing model: Here, we are able to provide, in particular, our enterprise capabilities at a lower entry price. We measure the usage of the software in terms of samples process and have a fee structure based on total annual sample volume. We offer this option with our upcoming VSWarehouse 3.0 release. This option is best for those labs that would like to utilize our entire spectrum of capabilities but need some budgetary flexibility as they are not sure about the sample ramp-up in their lab yet.
• Unlimited licensing model: This licensing model is attractive for large organizations such as national genome centers or collaborative networks of labs that standardize on our software. We can offer an unlimited licensing option in terms of samples processed, features used, and users under license. This is the most efficient way to purchase large quantities of our software for a large cohort of users across multiple labs.

A Vision for the Future

Looking ahead, the thread connecting these initiatives is improved patient outcomes. Whether it’s personalized PGx, uncovering actionable cancer variants, or modernizing data infrastructure in the cloud, our ultimate mission is to equip clinical labs with tools they can rely on—tools that streamline workflows, ensure quality, and deliver actionable results. Moreover, our ISO certification and CE Mark achievements underscore our steadfast commitment to rigorous standards. As regulations evolve, our product roadmap will continue to prioritize compliance, ensuring labs worldwide can seamlessly adopt Golden Helix solutions. Here is to an outstanding year, 2025!