Table 3.
Participants’ quotes regarding the categories of IR from usability testing (Stage 5)
| Category | Illustrative quote | Illustrative quote | Illustrative quote |
|---|---|---|---|
| Category 1: Medically actionable | I think the first category […] there was no pausing on that one, […] I would want to know that I […] had that gene, and what […] could be done, because if there is surgery, or there [are] things that can be done ahead of time to deal with it, that’s the type of person I would be.’ (P15) | “ 'How important is it for you to learn about disease risks that you can reduce by taking medications, screening tests or having surgery?' I am going to say very important for that.” (P13) | “You know, none of the speaking changed my decision on how I would react to [categories] one and two, I would want them no matter what.” (P15) |
| Category 2: Common disease risks | “ 'How important is it for you to learn about your risk for common diseases you can reduce with a healthy diet and exercise?' Everybody knows healthy diet and exercise can already do that […]. So […] not very important for me.” (P13) | “Category two is the category which will tell me if I am at risk for common diseases, so yes, definitely” (P1) | “I still want to know if I am going to have diabetes, obviously I am not going to have that extra donut tonight. I mean, if I am going to have something. I still think even if you say, I can’t, interventions are not available, I still think there are things you can do.” (P10) |
| Category 3: Rare genetic diseases | “Even though they are not preventable I want to know, what I am in for. If something is in my future I can sort of plan ahead of time, so I will be comfortable.” (Pt 010) | “[…] These are not going to be diseases that are treatable or preventable. But it would mean that I could read about them in case something new comes up.” (P8) | “You know, […] if there is nothing I can do about it, I don’t really want to to know about it.' (P13) |
| Category 4: Brain diseases | “[…] Moving on to category four, oh gosh, this is even harder because it deals with brain diseases. […] I guess what makes it important is you can plan for it.” (P1) | “I don’t know, I just don’t see why I really need that information. I’d rather just live my life, you know, just continue on the way I am […] Eventually I’ll get over it but it’s still going to eat away at me, like it’s going to sit there in the back of my brain and if there is nothing I can do about it I just, I don’t want to know about it.” (P13). | “So finding out is a kind of, how do you plan for having Alzheimer’s? And then, maybe you don’t have [it]. And I think that’s one of the more anxiety [provoking], especially for somebody who is middle age or approaching middle age.” (P9) |
| Category 5: Carrier status | “…Okay, so I am moving to category five. Okay. So this would be very important because you I would be I carrier. So I would say, yeah of course it could affect your decision for having children, and then of course letting your family and relatives know if that’s important, even though [it] wouldn’t be easy to do.” (P1) | “Then you can prepare your children for it because I have a son […] I would want to let him know everything possible that, again, could make his life the best that it could be.” (P15) | “It is not applicable to me today. But I’d still like to know myself, even for my own personal reasons, I would say somewhat important. I want to know because if I have it my brother may have it still, or family [members]. I think it is important that we all share this information, whatever it is.” (P10) |