Table 5 Quotes related to participants' perceptions about the modalities of disclosing genomic sequencing SFs

When to disclose genomic

sequencing SFs?

Quote 12: “The woman (in the case example) is in oncology, and she’s undergoing tests for something, and they discover another thing. I don’t know; there is also the moment. I don’t know if it’s the right time to tell her while she’s already overburdened with what she already has” Woman from the general Quebec City population

Quote 13: “If the patient is in the terminal phase, it’s useless to overburden him with another disease…the patient is dying. He’s probably not even going to develop the disease depending on the stage of his cancer.” Male from the general Montreal population

Quote 14: “I think that a physician faced with someone who is extremely anxious; I think that he should use his judgment. If the person were to get sick with anxiety at the thought of not knowing what they have or if it is going to kill them or not, I don’t think that does them any favors. Woman from the general Quebec City population

Who should disclose genomic sequencing

SFs?

Quote 15: “Maybe the physician who ordered the test, you expect that he gives you the results that he requested, but maybe he could come a bit more prepared, especially in cases where they may be a little bit less like psychologists, at least, give you pamphlets or information or tell you “call this place or go to see this person, and they will be able to help you out if you have questions about them (SFs)’…” Woman from the general Quebec City population

Quote 16: “In an ideal world, let’s say Alzheimer’s disease, the carrier gene, the oncologist could, even before meeting his patient, consult a specialist regarding this disease, and the Alzheimer’s specialist could take the time to explain to the patient, well, if you develop it (Alzheimer’s disease), (here are) the symptoms (that you could present). Same thing for Wilson’s disease. The oncologist could call a specialist in that disease.” Woman from the general Quebec City population

Quote 17: “Let’s say the oncologist announces that I have a genetic abnormality predisposing to Alzheimer's disease, he won’t know how to answer all my questions. So, then, I’m going to see an Alzheimer's disease specialist. I tell myself, couldn’t the oncologist just transfer the information to the Alzheimer’s disease specialist, and I could meet him first instead of…Often; actually, we go down from one floor to another, and we walk around.” Woman from the general Quebec City population

Quote 18: “Nothing prevents my family physician from getting my results and telling me. I meet him every year; I keep in touch with him.” Montreal female cancer survivor

Who should disclose genomic sequencing

SFs?

(continued)

How should genomic sequencing SFs be disclosed?

Quote 19: “Of course, I would maybe like to meet him (a genetic counselor) to understand more, it’s that person’s world. He’s used to playing with the genes, and all that stuff, so, I would like that…I know there’s nothing serious, but I would like to understand and know the risks, and to learn more about it (secondary findings).” Woman from the general Quebec City population

Quote 20: “…it should be the person who makes you undergo the tests. In my case, it was ordered by the surgeon, but it’s the geneticist who gave me the results. It must be him who transmits them…the person who makes you undergo the tests is in the best position (to transmit the results).” Montreal female cancer survivor

Quote 21: “Me, I think that it would take a specialist who can communicate (several yes’s in the room), and who has time. No matter if it’s a physician or a nurse because if we look at the health care sector, there are nurses who are doing an outstanding job and who will take the time. They have more, I think, the opportunity to do so, but they are going to take more time with the patient than the physician. The physician has five minutes to tell you, and it’s ‘thank you, have a good day, see you next time’.” Woman from the general Quebec City population

Quote 22: “But if it is something more serious like Alzheimer’s, Wilson’s disease or cystic fibrosis, whether it is a physician, a nurse or someone else, I would mostly want to have statistics or complementary information. What are the odds that you pass it on to your children? If it’s Alzheimer’s disease for you, for instance, what are the things that you can do to try to improve the situation? Take memory tests or play memory games or things like that. That’s that complementary information that I would like to have. I think that this should be done in person in this case”. Male from the general population in Montreal

Quote 23: “Maybe it allowed me to keep control of my emotions or if I have a blackout, the other (the person accompanying me) can keep the information for me, and we can talk about it afterward”. Montreal female cancer survivor

Quote 24: “Me, I go about it alone. After that, I take everything in, and after, I share what I wish to share.” Montreal female cancer survivor

Quote 25: “For my partner, me, I would tell her more personally because I know her better, I know how to prepare her. In a fortuitous event, it’s more stressful to see her reaction than other things. Thus, I would prepare her calmly. I’m going to tell her, but I’m going to tell her more calmly. Otherwise, it will degenerate, I know that.” Male from the general Quebec City population

Quote 26: “Me, one of the disadvantages that I would see…I think about the whole process (of my disease): the (cancer) diagnosis announcement, the treatments and all that…I didn’t want to have to deal with someone else’s sadness because I’m the strong one in the family…You all, deal with your sadness, me, I’m going to deal with mine.” Montreal female cancer survivor

Quote 27: “I don’t know, I wouldn’t go that far because I already received MRI or scan results by phone, and that didn’t cause me any problem. I think if I have a risk of hypercholesterolemia, and they announce over the phone like that, it wouldn’t affect me at all.” Montreal male cancer survivor

Informing family members

Quote 28: “I think that it’s the patient that must decide whether his family must know or not. There are some things that I wouldn’t tell my children, but if it implies that my children may have it later like Alzheimer’s, let’s say, I would tell them that I carry a gene (pathogenic variant), and maybe that you (her children) carry it also.” Woman from the general population in Montreal

Quote 29: “The only thing I know is that with cystic fibrosis, and Wilson’s disease, I would say to the children, ‘check if you are not carriers also because if you have a partner who is a carrier, you have a one-in-four odds or two to have a child affected by a disease. It’s more for prevention.” Woman from the general Quebec City population

Quote 30: “I am happy to be informed, but informing others is what scares me. I don't know their reactions. Informing other people makes me uncomfortable. Because we don't all have the same reactions. Some people panic.” Quebec City male cancer survivor

Support needs

Quote 31: “On the other hand, insurance companies should never know about it (genetic predisposition). It should be forbidden by law, and completely forbidden to discriminate based on genetic criteria …Based on observable criteria like do you smoke or not, things like that. Your gender, the geographic area where you live. All that is already proven, it’s already known, so why not just stop there and make ‘systematic’ laws…deny the insurance companies the right to ask for it (genetic information) and the option to set prices based on genetic information.” Male from the general Montreal population

Quote 32: “Getting back to the law, should we also apply it to our employers? There are many employers who make you pass blood tests when you are first hired by a company…, but they can look for complementary information. They can tell themselves, ‘I’m not hiring him; he’s predisposed to this and that’.” Male from the general Montreal population

Quote 33: “Maybe a support group, a phone number where you can call to have more information, a website…Something concrete that the person can go see, get informed, that the physician who conveys the result (genomic SFs) gives him all this information so that he’s able to leave from there (the office), and still feel a little, in control. I’m going to do that, I’m going to do that, and I’m going to do that.” Montreal female cancer survivor