Genomic discoveries that have changed the game have made personalized medicine, also called “precision medicine,” possible. A deep understanding of DNA and how it varies from person to person is powering a new era of diagnostics, treatments, and predictive and preventive medicine. One problem with previous genomical precision medicine studies is that they were not developed based on the unique culture and history of Hispanic people. Our initiative will combine the best clinical genetic testing with new methods based on research to improve patient outcomes.
For COPECC’s mission to be accomplished, the GCU unit focuses on improving and optimizing the best clinically validated molecular tests that are already available with emerging new methods for the Hispanic communities. Because of this, we are using multiple laboratories and multiple approaches. When it comes to tumor mutations, we will use Exact Sciences. They will give us mutations across all genes and give insights into how these mutations are translated. From Invitae, we get germline sequencing for pathogenic variants that put people at risk for inherited cancers. We will evaluate additional tests that are specifically designed to reduce how often ambiguous results are given back, specifically “variants of unknown effect”.
The GCU will add depth and push to advance several methods emerging from research. Along with deep exome sequencing of tumors and blood, this new research-based sequencing will include whole genome sequencing. This extra sequencing will give the Hispanic community more information about the genome in its entirety and give us a better view of more complex types of frequently missed mutations. Methylation analysis will also be used by the GCU to look for signs of the disease coming back in a blood test.
We will put all of the information we collect in the COPECC Integrated Molecular Report (IMR), which is a key part of how we will optimize all of these approaches for a better understanding by both physicians and patients. With the IMR Study instrument, molecular data and clinical features are brought together. It gives a structured presentation of important clinical data, CLIA molecular data, and information from existing literature and clinical trials. The IMR will help guide discussions at the regular Molecular Tumor Board meetings, where patients are talked about to figure out the best way to treat them.
The GCU will work closely with the Engagement Optimization Unit to get feedback from oncology providers about the Integrated Molecular Report (IMR), which will be in the patient’s medical record. The information gathered will help make the IMR and how it is used to decide how to treat each patient even better. The goal is to make sure that the design is the best it can be so that the CLIA test reports have the most impact on precision oncology and so that Hispanic patients and their families can understand complex genomics data.
The Genomics Characterization Unit includes David W. Craig, Ph.D., John D. Carpten, PhD, Bodour Salhia, PhD, and Enrique Velazquez Villareal, MD who have pioneered using nextgeneration genomics technology to bring precision medicine to oncology.
