Grant: CIHR Fellowship

Genomic technologies now make it possible to test at once all genes of an individual and get results within a few days. This can be useful for many patients, but introducing these tests in practice is challenging because they are complex, expensive, and require extensive resources. Two of these challenges occur after a genetic test has been done. One is making sure patients understand what their results mean. This is currently done with in-person genetic counseling. Another is providing quality care for people with genetic diseases. This can be difficult since primary care providers are often unfamiliar with these rare conditions. My project will develop innovative solutions to these challenges. First, an online personal health portal will be designed to improve genetic counseling accessibility for cancer patients. Since genomic sequencing looks at all genes, it can report results that have an uncertain meaning. As knowledge about our genes advances, these uncertain results can be reclassified as either normal (without health impact), or pathogenic (causing a genetic condition). Patients who previously had this test and received an uncertain result will use the online portal to verify if it was updated and if so, what it means for their health. Patients will then provide feedback to help adapt the portal to their needs. Next, strategies to improve care delivery to children with rare genetic diseases will be developed. These children often require complex care. Families report that some of the care received is inadequate or could be improved. Based on this information, I will develop strategies to change how providers and healthcare systems interact with families so that their child receives quality care. This project focuses on problems identified by patients (and families) themselves, involving them as partners. Bridging clinical services offered to patients & families' needs is complex. Achieving this efficiently and sustainably requires innovative approaches.