Leading-edge consent process will benefit UW genomics researchers and patients

By Leo Barolo

Over the past decade, major medical discoveries have been made from genomic data, including the identification of gene mutations that regulate cancer biology, their distribution in distinct cancer types, and their effect on disease progression. This information holds great promise for precision oncology, where a patient’s genome sequence influences their care and treatment.

Even though databases with anonymous genome data, such as The Cancer Genome Atlas (TCGA) have enabled many of these discoveries, they are limited in the information they collect on patients. While these limitations can be overcome by engaging patients for ongoing participation in research studies, the inefficient mechanisms to secure the data and record patient consent has been a barrier to research and treatment progress. But UW-Madison is about to change that.

The Carbone Cancer Center (UWCCC) is implementing an efficient front-door patient consent process, allowing all patients to choose to participate in sharing their genomic and clinical data for diverse research projects across UW-Madison.  This process will electronically link the patient’s genomic data to archived tumor samples and blood collection, enabling broader study.

Dr. Mark Burkard

“We aim to provide a facile regulatory and informatics system of data sharing to enable UW to become a leader in human genetics” explains Dr. Mark Burkard, Associate Director for Genomics and Precision Medicine in UWCCC and PI of a UW2020-funded project on the effort.

Burkard explains that electronically linking genomic data with actual people giving their consent will significantly enhance research efforts, and thus benefit patients.  The new system will enable follow-up contacting of individuals, for example, to relay genetic findings or collect additional samples that would advance knowledge, like skin biopsies or blood samples.  It would also provide additional information to researchers, including clinical data summarized in electronic medical records (EMR) or archived pathology samples from years ago.

Burkard anticipates that this project will allow UW investigators to make discoveries, rapidly test hypotheses about predictive and prognostic biomarkers, repurpose existing genomics data for new scientific studies, and determine whether a translational study has a sufficient patient population to perform the research. Importantly, it will enable next-generation sequencing (NGS) data sharing and repurposing at UW-Madison in a system that can extract clinical information or select samples for additional genomic characterization.

The streamlined consent process will reach every cancer patient (and can be expanded beyond cancer) through electronic consents that can be completed at home, or with a cell phone or iPad in a clinic.  As such, patients can easily choose to enable genomics sharing across UW research efforts and link their clinical information to that data so that clinic staff can easily identify consented/non-consented individuals in EMR.

This multi-year effort was launched with support from Vice Chancellor’s office, UW Health (through the Genomics-Driven Precision Medicine in Oncology strategic initiative), the UWCCC Molecular Tumor Board, the Department of Pathology, and the State of Wisconsin (Wisconsin Precision Medicine Initiative) with strong collaboration from the School of Medicine and Public Health bioinformatics and the UW-Madison Health Sciences Institutional Review Board (HS-IRB). The e-consent is being piloted and optimized with UW Health clinical staff and expects to be operational in the second half of 2022.