This TED-style session will feature concise, idea-driven talks from researchers whose work advances equitable access, education, and participation in genomic science. The focus will be on community-centered research and responsible data stewardship, highlighting how data accessibility, transparency, representation, and engagement strengthen the quality and trustworthiness of genomic research. Speakers will share insights from programs that broaden participation in genetics and genomics, including the All of Us Research Program and ClinGen, and address issues surrounding genomic data availability and accessibility, information sovereignty, and ethical data use. Discussions will also touch on how current entities handle consent and regulatory boundaries in genomic data sharing. This session format is designed to engage both scientific and community perspectives, encouraging attendees to consider practical approaches that ensure genomic discoveries are more accessible, representative and beneficial across populations, institutions, and countries.

By the end of this session, participants will be able to: Describe current approaches that expand community participation in genomic research and education. Discuss key issues related to data availability, information sovereignty, and responsible use of genomic information. Identify strategies that promote broader access to genomic resources and mentorship within the scientific community.

This session aims to inspire attendees to consider how educational outreach, ethical data practices, inclusive mentorship, and collaborative community engagement can strengthen genomic research. The TED-style format will provide concise, compelling talks that highlight real-world initiatives and actionable ideas for fostering trust, accessibility, and participation in the field.

Learn More About Invited Sessions

Standardized, objective, and evidence-based interpretation of cancer variants is essential to ensure the clinical utility of genetic and genomic testing in oncology. As cancer testing increasingly depends on complex genomic data, variations in classification and interpretation of detected abnormalities can lead to discrepancies in patient management, including diagnosis, prognostic assessment, and therapeutic decision-making. Recognizing the need for harmonized variant interpretation grounded in transparent and evidence-based criteria, professional organizations have worked collaboratively to develop standards for classifying the oncogenicity and clinical significance of diverse types of cancer genetic and genomic variants. These standards continue to evolve to reflect advances in knowledge, technology, and clinical practice in cancer genomics. 

This session will provide an overview of the most recent revisions and updates to key standards for interpreting the oncogenicity and clinical significance of acquired cancer variants. It will highlight the latest version of the AMP/ASCO/CAP Standards and Guidelines for the Interpretation and Reporting of Sequence Variants, developed by a multidisciplinary AMP Clinical Practice Committee Working Group. Key updates to the four-tier system for clinical classification of somatic sequence variants and to the five types and levels of supporting evidence will be described and illustrated through multiple case examples.

The session will also provide an update on the ongoing joint initiative between ACMG, CGC, AMP, and CAP to revise the technical laboratory standards for interpretation and reporting of acquired numerical and structural genomic abnormalities and copy-neutral loss of heterozygosity (CN-LOH) in neoplastic disorders. Discussion will include incorporation of structural genomic abnormalities into the updated classification framework and efforts to harmonize interpretation of numerical, structural, and CN-LOH abnormalities with that of sequence variants.

Finally, the session will describe the ClinGen/CGC/VICC collaborative effort to expand the existing framework for classifying the oncogenicity of somatic sequence variants by developing systematic recommendations and procedures for evaluating oncogenicity of gene fusions. Testing for oncogenic fusions using both targeted panels and transcriptome-sequencing approaches has been steadily increasing in clinical laboratories; however, unlike sequence variants, no formal standards currently exist for objectively assessing the oncogenicity of gene fusions in cancer. This initiative aims to close that important practice gap and will be discussed in detail.

Learn More About Invited Sessions

A growing number of community-developed guidelines now support variant interpretation in cancers. These include the germline variant classification guidelines for cancer predisposition from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP); the somatic cancer variant clinical significance guidelines from AMP, the American Society of Clinical Oncology, and the College of American Pathologists (AMP/ASCO/CAP); and the somatic variant oncogenicity guidelines developed by the Clinical Genome Resource, Cancer Genomics Consortium, and the Variant Interpretation for Cancer Consortium (ClinGen/CGC/VICC). Yet these frameworks contain ambiguities, flexible rules, and domain-agnostic rubrics that are difficult to apply consistently across the breadth of clinical cancer genomics settings. As a result, expert groups and clinical laboratories routinely refine these guidelines to meet the specific needs and nuances of their practice.

In this session, we will examine how such adaptations occur in both clinical laboratory and expert panel contexts, and describe how contemporary genomic knowledge standards from the Global Alliance for Genomics and Health (GA4GH) enable dissemination and interoperability of knowledge from these heterogeneous adaptations across the clinical genomics community.

The session will begin with an overview of the expert panel development process used by Somatic Cancer Variant Curation Expert Panels (SC-VCEPs) within the ClinGen Somatic Cancer Consortium. These panels adapt community frameworks to gene-specific contexts through the ClinGen rule development and piloting process. We will illustrate this with examples of SC-VCEP specifications of variant oncogenicity guidelines, including refinements for functional assays, variant databases, and prediction algorithms, as well as extensions to new variant types such as gene fusions curated by the NTRK fusion SC-VCEP. These oncogenicity specifications will be discussed alongside corresponding clinical significance (diagnostic, prognostic, and drug response) classifications, with attention to gene-specific implementations of the somatic clinical significance guidelines. We will contextualize these outputs as publicly available curation data in the CIViC knowledgebase.

Next, we will explore how clinical laboratories implement community guidelines within the operational and interpretive constraints of clinical practice. Drawing from implementation at the Institute for Genomic Medicine (Nationwide Children's Hospital), we will describe a clinically validated standard operating procedure and supporting software (VarCat) for classifying oncogenicity and clinical significance in pediatric cancers. We will highlight key modifications needed to systematically apply community frameworks to pediatric tumor contexts and generalize these lessons to broader challenges faced by other diagnostic laboratories. Application of these strategies will be demonstrated through the open-source VarCat clinical variant classification platform. We will conclude with an overview of how different local conventions for applying community guidelines can be made interoperable through genomic knowledge exchange standards. We will describe contemporary GA4GH standards developed to support this goal and demonstrate how they facilitate dissemination of knowledge from the SC-VCEP and clinical laboratory use cases presented earlier in the session.

The session will close with practical guidance on strategies and tools for laboratories to adapt and integrate these standards into their clinical interpretation workflows.

Learn More About Invited Sessions

Pharmacogenomics (PGx) is rapidly evolving into a cornerstone of precision medicine, yet its clinical implementation continues to face challenges in assay selection, workflow integration, and data harmonization. This session offers a practical, laboratory-focused exploration of how leading clinical molecular laboratories have successfully built, validated, and integrated PGx programs. 

The first presentation, by Dr. Stuart Scott, Director - Clinical Genomics lab from Stanford, will outline the technical and regulatory considerations involved in establishing a PGx testing program. Key discussion topics will include validation strategies for single-gene versus multi-gene panels, criteria for selecting appropriate testing platforms (genotyping arrays, targeted sequencing, or NGS-based assays), and the development of clinical guidelines for result interpretation and reporting.

The second speaker, Dr. Sherin Shaaban from ARUP Laboratories will focus on operationalizing PGx testing within the clinical workflow. Drawing on experience from a high-throughput national reference laboratory, this presentation will detail how to design pre-analytical, analytical, and post-analytical workflows that ensure test quality, timely turnaround, and clinical relevance. The session will also examine strategies for provider education, report standardization, and electronic health record (EHR) integration to of PGx reports to promote clinical adoption.

In the final presentation, Dr. Teri Kline at Stanford University, will showcase the evolving landscape of PGx knowledgebases and interpretation tools. The talk will demystify commonly used resources, including ClinPGx, CPIC, PharmVar, and PharmCAT, highlighting their distinct purposes and strengths. Attendees will learn how these databases synergize to support variant curation, clinical annotation, and clinical decision support tools for PGx testing.

By combining insights from PGx laboratory setup, relevant guidelines, clinical implementation, and PGx knowledgebases, this invited session will provide attendees with an exciting and comprehensive understanding of how to build robust, clinically impactful PGx testing programs.

Learn More About Invited Sessions

This session will explore the evolving landscape of variant classification in low to moderate penetrance genes and variants with lower penetrance for otherwise high penetrance disorders, an increasingly critical issue in hereditary cancer genomics testing. We are drawing on experiences from multiple ClinGen expert panels and the ClinGen Low Penetrance Working Group. Risk alleles and low-penetrance variants are now recognized as distinct variant classes from those causing highly penetrant disease that require special considerations regarding their clinical classification and reporting. 

The session will highlight how ClinGen variant curation expert panels (VCEP) have adapted their specifications to address evidence types that assume high penetrance, variants with limited data, and uncertain clinical associations. The session will explore how ClinGen panels and the Low Penetrance Working Group have refined evidence strength, thresholds, and the use of functional data to better capture intermediate risk and variable expression. Case examples/presentations (~10 min per presenter) will illustrate how specific thresholds, variant type and integration of harmonization within the clinical community will be discussed. We will also solicit questions or examples from registrants before the conference to encourage discussion during the latter half of the session.

Learn More About Invited Sessions

The Unconference format is a participant-driven meeting, with emphasis on collaborative discussion and hands-on activities, with minimal lecture-style presentations or top-down structure. It will be held over two days, Saturday afternoon and Sunday morning, as an in-person, pre-meeting of the 2026 Cancer Genomics Consortium Annual Meeting. 

The focus of this meeting will be to continue developing community consensus on data standards for interpreting variants in cancer, engage clinical experts in curating content, enhance the integration and interoperability of resources, and engage software developers to improve variant interpretation software. 

Additional related topics will be proposed by meeting participants. No coding/bioinformatics skills needed.

Learn More About the Unconference