Table 3 Quotes related to participants’ perceptions of returning genomic sequencing SFs about specific diseases and a VUS

Hypercholester-olemia

Quote 5: “We can adjust our diet according to that data. I have had high cholesterol since I was 18, and so, I adjusted my life with medication, training, healthy nutrition due to the diagnosis and the result I had. It was very beneficial to know it, and to make an adjustment, and avoid any coronary disease”. Montreal male cancer survivor

Quote 6: “Me, I would rather not be worried about small things like that,…one day, I could be told “look, your lab results ( for cholesterolemia) are not good, I’m going to prescribe you a pill for it”…because I would already have cancer and all that…” Woman from the Quebec City general population

Alzheimer’s disease

Quote 7: “…but my first answer was ‘probably not’ (to receive a result showing that I’m carrying a genetic variant predisposing to Alzheimer's disease) because I would fear that it would poison my life for nothing. Because there is no treatment.” Woman from the general Quebec City population

Wilson’s disease

Cystic fibrosis

VUS

Quote 8: “On the other hand, for having experienced it, it may cause a problem with insurability. That is why I’m hesitant; I experienced it, I have children, and there are also cases of breast cancer in my family. There have already been some refusals of insurance coverage. My sons are young adults, but I would have a small hesitation. I agree with the whole issue of prevention, to contribute to research advancement, but I still have a small hesitation”. Female cancer survivor from Quebec City

Quote 9: “Me, you see, to know that I was carrying a gene (pathogenic variant), before having children, I would have the man who was going to fertilize me tested, and we would decide not to have children”. Female cancer survivor from Quebec City

Quote 10: “Since science is always in constant progression, we don’t know for now, but in five years from now, it may mean something. Maybe, we’re missing something crucial”. Female cancer survivor from Quebec

Quote 11: “There is an anomaly, but they don’t know if it is serious. Why should I be informed about something that currently doesn’t cause any health problems? So, if I eventually get sick and it’s odd, well then, they can carry further research, but for now, I do not want to know about it. I tell myself it doesn’t give me anything to bother with it if they themselves don’t know what it is. An anomaly but almost everyone has one for sure, and we are doing pretty well, so I do not want to know about it.” Woman from the general Quebec City population