Hartwig visit to Jackson Laboratory in Farmington, CT 

For interpretation of molecular results, Hartwig relies on the CKB resource that has been developed by The Jackson Laboratory, and which has recently been acquired by Genomenon.  

For every mutation in tumors of patients, the CKB resource can be used to determine whether there is evidence regarding impact on gene function. In addition, the CKB resource is helpful to determine whether a mutation is a biomarker predicting responsiveness or resistance to a specific treatment. Finally, the CKB resource contains an overview of all approved biomarker-driven therapies and clinical trials globally along with molecular profile.  

Beyond providing and maintaining the CKB resource, the CKB team has helped the Hartwig team to leverage data in the CKB resource to the full extent. Many of the clinical interpretation algorithms developed by Hartwig have been optimized after discussions with the CKB team. As previously published, the collaboration with the CKB team has been quite beneficial to Hartwig. 

To foster this collaboration, the CKB team invited Hartwig to The Jackson Laboratory for Genomic Medicine in Farmington, CT. On May 30 and May 31 of this year, five members of the Hartwig team visited JAX’s office in Farmington, where Hartwig provided a detailed overview of how the CKB resource is used in molecular interpretation. In general, most of the time was spent together, which led to various new ideas to further improve Hartwig’s molecular interpretation.  

During the visit, JAX also arranged meetings between Hartwig and researchers and clinicians in the region. Some of these researchers had worked with data from the Hartwig Medical Database before, and it was enlightening to realize how Hartwig’s database of whole genome sequencing is used by researchers across the world, hopefully leading to better patient care in the future. Conversations with oncologists led to better understanding of the organization of oncology care in hospitals in the USA. Finally, Hartwig was invited to host a “lunch ‘n learn” session, in which the Hartwig mission and ongoing projects were presented to a broader group of JAX employees. 

Overall, the trip was very well organized by the CKB team. The Hartwig team felt very welcome and valued everyone’s enthusiasm to share their ideas and experiences. Hartwig would like to extend a special thanks to Courtney Loring for her hospitality. As Hartwig, we gained many new ideas for improving our algorithms and are looking forward to continued collaboration with the CKB team!  

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