As 2024 comes to a close, our team at Genomenon is proud to highlight a year defined by key advancements in our mission to make genomic information actionable. This year, we’ve taken significant strides toward our Big Hairy Audacious Goal (BHAG) of curating the human genome, focusing on impactful collaborations, innovative solutions, and scientific achievements that bring us closer to transforming patient outcomes.
Expanding Genomic Insight Through Strategic Acquisition
A standout milestone of 2024 was the acquisition of The Jackson Laboratory’s Clinical Knowledgebase (CKB, now Cancer Knowledgebase). This move allowed us to establish an unparalleled view of the genome, integrating insights on both germline and somatic variants. By combining the power of Mastermind with CKB’s dynamic cancer data, we’re empowering clinicians and researchers worldwide to connect cancer variants to therapies and clinical trials more efficiently. Together, these tools provide comprehensive genomic insights across rare diseases and oncology, directly supporting improved diagnosis and treatment.
Advancing Genomic Applications Through Partnerships
This year, partnerships played a pivotal role in driving innovation. Notably, our collaboration with Pharming advanced diagnosis for APDS by making PIK3CD and PIK3R1 variant data accessible to genetic testing labs globally. Similarly, our partnerships with SOPHiA GENETICS and GenomOncology expanded our capabilities. The integration with SOPHiA GENETICS enhances researchers’ access to the most comprehensive genomic data in Alamut, while our collaboration with GenomOncology delivers a streamlined approach to germline variant classification. These alliances ensure that clinicians have the tools they need to make more informed decisions for patients.
Enhancing Product Capabilities for Greater Impact
2024 marked significant enhancements to our product offerings. We achieved systematic curation of every published variant for all ACMG secondary findings genes, aligning with ACMG classification standards. This advancement in Mastermind accelerates the interpretation of medically valuable genetic variants, enabling laboratories to identify actionable insights more efficiently. We’re also excited to announce that we’ve now curated a selection of nearly 150 of the most common and impactful genes found on cardiology panels! This marks an important step not just in progressing in our mission to curate the human genome, but also in managing patients with cardiovascular disease and improving outcomes. These genes, associated with conditions like arrhythmias, cardiomyopathies and more were curated following review of several cardiology panels from leading diagnostic labs and our gene-disease relationships. It also includes all the ACMG secondary findings of cardiology genes. The team is working on continuing expanding our curated content to include hereditary cancer panels information. More on that to come soon! Additionally, expanding CKB’s clinical trial data to 25 new countries has provided clinicians with greater access to global trials, bridging the gap between patients and potentially life-saving treatments.
Scientific Milestones Driving Innovation
Our scientific efforts reached new heights in 2024. In June, we completed curation of half of the clinical exome, a critical milestone that underpins our mission, and by the end of 2024, we will have completed curation of more than 70% of the clinical exome in total. This achievement also supported the formal launch of our Data Solutions program, which delivers unprecedented insights into both germline and somatic variants. Beyond this, we contributed impactful research to the scientific community, including a widely recognized article in Frontiers in Genetics that evaluated AlphaMissense predictions for classifying variants of uncertain significance (VUS).
Our presence at key industry conferences - ACMG, ASHG, ESHG, and AMP - was another highlight. With seven scientific posters and four presentations, we showcased the cutting-edge work of our talented team and reaffirmed our leadership in the genomics space.
Looking Ahead
Reflecting on 2024, it’s clear that this has been a transformative year for Genomenon. From the acquisition of CKB to achieving the critical milestone of curating half of the clinical exome, we have made measurable progress toward our BHAG. These achievements reflect the dedication and innovation of our team and the power of collaboration to advance genomic medicine.
As we move into 2025, we are energized by the momentum of 2024 and ready to continue breaking new ground. With an unwavering focus on saving and improving lives, we are poised to push the boundaries of what’s possible in genomic research and its application in healthcare.
