Public Genomics: Examining public uptake and use of genome squencing

Lead Researcher(s):  Yvonne Bombard

Lead Institution: University of Toronto/St. Michael’s Hospital

Co-Investigators: Jordan Lerner-Ellis, Raymond Kim, Emily Glogowski, Kasmintan Schrader, Adena Scheer, Ahmed Bayoumi, Nancy Baxter, Kevin Thorpe, Andreas Laupacis

ARCC Program Area(s): Societal Values and Public Engagement

Funding Term: 2017-2019

Project Summary:

Genome sequencing (GS) is a driver of ‘precision oncology,’ poised to improve patient management and tailor interventions. GS may also reveal extra (or incidental) information about inherited risks for many other cancers and diseases. However, there is limited data on the likely uptake of incidental GS results. Estimating the uptake and actions taken on the basis of GS results is important to optimize counseling and project health service use. The aim of this study is to project uptake of and use of GS results. The study design is a survey along with a discrete choice experiment (DCE) conducted with a sample of the general public (N=1000) compared to a subsample of cancer patients (N=250) (Phase 2). Prior to conducting our study we will pilot test our survey and DCE with a group of 20 cancer patients from St. Michael’s hospital (Phase 1).

Potential Impact:

As the cost of GS technology decreases, it is widely predicted that GS, rather than conventional genetic testing approaches, will become a part of standard precision oncology care.  This shift in the genomic paradigm will be particularly accelerated in the field of cancer genetics where tumour GS and germline GS have been utilized

to identify therapeutic targets, improve diagnosis and individualize care. Likewise, incidental findings will be generated most frequently among cancer patients, thereby providing them the greatest potential for improved health outcomes. However, little is known about cancer patient uptake of incidental GS results and therefore it is difficult to predict the impact this will have on patient outcome, care and cancer care in general. This is the first study in Canada that will project the likely uptake of incidental results among cancer patients compared with that of the general public. This research will provide health-care policy makers and providers with necessary data to effectively plan for the integration of GS into cancer care.