Grant: Team Grant: Personalized Health

Genomic sequencing (GS) is a test that scans a person's genetic code to identify changes that may be disease-causing. GS is increasingly being used for patient care as it improves diagnosis and health outcomes. In spite of these benefits, GS is a complex and costly health service. This results in unequal access, increased wait times and inconsistencies in care. The use of eHealth tools to support GS delivery can result in a better patient experience and reduced distress associated with waiting for results and empower patients to receive and act on medical results. Our study will develop a patient centred eHealth platform to deliver GS services and then evaluate its effectiveness compared to usual care. The platform will include a conversational chatbot and innovative strategies for pre-and post-test genetic counselling and result reporting. First, we will identify the key components of this novel platform with end-users and build the chatbot to provide educational, decisional and emotional support to patients. We will then conduct usability testing with a pan-Canadian sample of patients and health care providers to ensure the platform is patient-centred and optimized for a range of contexts. Next, we will conduct a randomized controlled trial, to understand if our eHealth platform is better than usual care. Patients undergoing GS will be randomly assigned to receive either our eHealth platform or usual care that consists of meeting with genetics providers in-person or over the phone. The outcomes include patients' distress, experience, satisfaction, empowerment, knowledge, perceived utility, behaviour change, and cost effectiveness. This study represents a significant advance in personalized health by developing a novel, comprehensive eHealth platform to improve genetic service delivery, accessibility, patient experiences, and patient outcomes. The shift to virtual care during the COVID-19 pandemic underscores the critical importance of this platform.