Genomic sequencing can illuminate the causes of health problems, indicate family members who may also be at risk and guide personalized treatment programs. Yet, there remains a dearth of trained genetic counsellors who can advise patients on inherited diseases and clinical decisions.
In fact, one 2018 study estimated there are only about 350 genetic counsellors in all of Canada.
“It’s a new technology that’s becoming increasingly affordable to do as routine,” says Yvonne Bombard, an associate professor at the Institute of Health Policy, Management and Evaluation (IHPME) at the University of Toronto’s Dalla Lana School of Public Health and a scientist at the Li Ka Shing Knowledge Institute of St. Michael’s Hospital. “It’s definitely part of cancer care, and it’s increasingly become a part of pediatrics, cardiology and neurology.
“But we don’t have the kind of workforce we need to support more routine or high-frequency ordering and management of this type of test. We don’t have the service that is robust enough to accommodate test volumes that are being requested now.”
It’s an issue Bombard plans to address head-on by leading the development of a novel digital health platform for delivering personalized genetic services.
With IHPME Associate Professor Robin Hayeems, Bombard secured a $2-million Team Grant from the Canadian Institutes of Health Research to build a tool to improve genetic service delivery, accessibility and outcomes that aims to reduce distress for patients while waiting for test results and empowering people to act on medical information.
The research team is made up of experts in artificial intelligence, machine learning, genomics, health technology assessment and user-centred design. It includes fellow researchers June Carroll (IHPME, Temerty Faculty of Medicine, Sinai Health System), Muhammad Mamdani (IHPME, Temerty Faculty of Medicine, Unity Health), Emily Seto (IHPME, University Health Network), Quynh Pham (IHPME, University Health Network), Wendy Ungar (IHPME, SickKids), Kevin Thorpe (IHPME), Lauren Chad (Temerty Faculty of Medicine, SickKids) and patient partner Maureen Smith.
“We are really excited to bring our expertise together, particularly as the pandemic has highlighted the need for innovative models of care,” says Hayeems, who is also a scientist at SickKids Research Institute.
The tool will virtualize care for genetic services from patient intake, which involves obtaining someone’s personal and family history and understanding their symptoms, providing education and counselling, and the return of results to help with management of care with the support of a provider. It will also incorporate a chatbot to triage patients and determine which people need follow-up with a counsellor or specialist.
The team will work with patients and health-care providers across Canada to ensure the platform meets patients’ and providers’ specific needs and works well in a range of contexts. Once the platform is developed, the researchers will conduct a randomized controlled trial to test whether it is better than usual care, provides value for money and is responsive to user needs.
The ultimate goal of the platform is to improve patients’ access and outcomes, and to enhance a person’s agency in their own care.
“The idea is to empower patients. They are partners in their care,” says Bombard. “The virtualization and tailoring of a person’s management is fundamentally a human interface, but there are a lot of elements that can be made more user-friendly for patients. If it’s more user-friendly, then people feel empowered and follow through on the recommendations from their care providers.”