Grant: Project Grant

BACKGROUND: The evidence that supports the role that genes and genetic variants play in causing diseases changes constantly. Patients may have their genetic results reanalyzed in light of new evidence, which can change the meaning of a test result. These updates can trigger changes to patients' care and can also provide clarity to previous uncertain results. Medical guidelines recommend recontacting patients, at minimum, if updated results impact their care. GAPS: Canadian providers are not resourced to routinely reanalyze genetic test results and recontact patients to provide updated results. Innovative tools to support recontact are needed. AIMS: 1) Develop a patient platform to return updated genetic test results. 2) Evaluate the effectiveness of the patient platform compared to usual care. METHODS Aim 1: Develop a patient platform to recontact patients with updated genetic test results. We will develop the patient platform in 3 phases: First, we will determine design requirements and content needs among diverse groups of end-users (patients, healthcare providers, laboratory scientists). Next, we will co-design the tool with end-users. Finally we will test the patient platform to understand and improve its functions and content. Aim 2: We will conduct a trial that will compare the impact of patients receiving updated genetic results using the patient platform vs. usual care (updates via genetic counselors). Our participants will be adult cancer patients who have received genomic sequencing and whose results will be reanalyzed. Outcomes include patient distress, knowledge, activation, quality of life, risk perception, adherence, wait and consult times. EXPECTED IMPACT: To our knowledge, this will be the first study to develop and test a patient platform for recontacting patients with updated genetic test results.