Cancer is a complex group of multi-omics disorders. Integrated multi-omics analysis enables comprehensive evaluation of tumor genomic, biochemical, metabolic, proteomic, and epigenomic processes that drive tumor development. These alterations are crucial for precision cancer diagnosis, risk stratification, treatment selection, and prevention. We have implemented this integrated approach that leverages advanced bioinformatics and Artificial Intelligence based workflows for multi-omics analysis of over 10,000 tumors including more than 6,000 pediatric tumors and provided comprehensive tumor multi-omics profiles to inform precision patient care. Over 90% of the patients have received clinically impactful results, including 82% with diagnostic significance leading to changing or modifying diagnosis for more than 10% of the patients based on the multi-omics data. Additionally, 50% of patients received prognostic insights and 44% benefited from therapeutic guidance, including approximately 15% with biomarker-based targeted therapies. Furthermore, confirmed or presumed pathogenic/likely pathogenic germline variants were identified in 5% to 10% of hematological malignancies and up to 20% of pediatric patients with brain tumors. As our knowledge about tumor multi-omics expands and the inclusion of more and more biomarkers into the professional guidelines, the percentages of patients receiving updated diagnoses and risk-based or biomarker-based targeted therapies upsurge steadily.
This integrated multi-omics approach is especially beneficial to patients with hard-to-diagnose tumors and/or difficult-to-threat, i.e., refractory/recurrent, tumors. The identification of associated cancer predisposition in pediatric cancer patients also facilitates cascade genetic testing for at-risk family members, cancer surveillance, and early cancer detection for mutation carriers. Given the significant success of our program, we advocate for the widespread application of this multi-omics approach in both pediatric and adult cancer care, not only to cure cancer but also to preserve patients' quality of life.
