Grant: Doctoral Research Award: Canada Graduate Scholarships

Genome-wide sequencing (GWS) is a sophisticated technology that looks at all of a person's genetic information in a single test. It is powerful at diagnosing genetic disorders but can generate unique genetic counselling issues (e.g. results that are difficult to understand and diagnosing disorders unrelated to why testing was pursued). GWS is being used more often and growing numbers of people are receiving genetic diagnoses, including adolescents. It is important to understand what the experience of receiving and living with a genetic diagnosis is like, so we can improve health services to make sure patients have the best possible outcomes. Studies have explored the experiences of adults who receive a genetic diagnosis and parents who receive a genetic diagnosis for their newborn or young child. But we know very little about experiences of adolescents in these circumstances. We do not know what impact a genetic diagnosis has on their identity development or how they adapt to their genetic conditions. Little is known about what adolescents with genetic diagnoses need from healthcare services to help them cope with their diagnosis. We will study the experiences of adolescents with genetic diagnoses made by GWS with regards to receiving, understanding, and living with a genetic diagnosis. We will explore what these adolescents need from healthcare services in order to adapt to their conditions, so that we can modify care to improve outcomes. To do this, we will interview adolescents with genetic diagnoses who agree to participate and ask them to complete questionnaires about how they adapt to the diagnosis, what impact it has on their identity, and whether they regret being tested. We will use the data we collect to develop a model to understand how adolescents adapt to genetic conditions. This model can be used to inform clinical services in British Columbia so that this group of patients has what they need from their healthcare services.