Table 2.
Summary of profile attributes
| Information Enthusiasts | Concerned Individuals | Contemplators | Individuals of Advanced Life Stage | Reassurance Seekers | |
|---|---|---|---|---|---|
| Attitude toward IR |
Enthusiastic Sense of agency related to learning IR Confident in their decisions |
Hesitant Reluctant to learn IR or pursue GS |
Recognize potential value Discerning about the limitations Engage in extensive deliberation |
Primarily consider impacts for family members Consider how their decisions would have differed at an earlier life stage |
Expect not to carry IR Hope for reassurance Possible misunderstanding of IR |
| Concerns about IR | Limited concerns | Emotional and psychological impacts | Uncertainty related to IR | Passing disease risks to family members | Receiving multiple IR |
| Limitations of the technology | How their future illness may impact family | ||||
| Self-Definition | A “planner” | “Anxious” | Not stated |
Altruistic “Experienced” |
Not stated |
| Perceived utility of IR |
Medical actions, lifestyle changes Planning for self and family Sharing results with family Seeking further information “Knowledge is power” |
Medical actions Weigh utility against potential negative impacts Low perceived utility overall |
Medical actions Planning |
Planning, particularly for family members Planning to maintain quality of life |
Reassurance about disease risk if they do not carry IR Medical actions |
| Sample category selection |
✔Category 1: Medically actionable ✔Category 2: Common Disease Risks ✔Category 3: Rare Genetic Diseases ✔Category 4: Early-Onset Brain Diseases ✔Category 5: Carrier Status |
x Category 1: Medically actionable x Category 2: Common Disease Risks x Category 3: Rare Genetic Diseases x Category 4: Early-Onset Brain Diseases x Category 5: Carrier Status |
✔Category 1: Medically actionable ✔Category 2: Common Disease Risks ✔Category 3: Rare Genetic Diseases ? Category 4: Early-Onset Brain Diseases ✔Category 5: Carrier Status |
✔Category 1: Medically actionable ✔Category 2: Common Disease Risks ✔Category 3: Rare Genetic Diseases ✔Category 4: Early-Onset Brain Diseases ? Category 5: Carrier Status |
✔Category 1: Medically actionable ✔Category 2: Common Disease Risks ✔Category 3: Rare Genetic Diseases ✔Category 4: Early-Onset Brain Diseases x Category 5: Carrier Status |
| Contextual factors |
Typically middle-aged Typically have children |
Past distressing experience with genetic testing, or profound health experience | Tend to be younger than other participants |
Lived experience with disease Typically have adult children |
Expectations for IR are shaped by their previous negative genetic test result |
| Illustrative quote | “I'm very much for planning and being prepared. And, also if there are things I'm doing that I should be doing differently that could make a difference in the end result kind of thing, then I would want to know what those things were more specifically.” – SB03 | “I really feel like the emotional component is the one that I was struggling with the most. Because, I do not believe I really fully understand what I can handle and what I can't handle.” – SB27 | “It's a tricky thing […] I absolutely want to be informed […] Then at the same time, once you know something, you can't really un-know it.” – MK42 | “I don't want to be a burden on my kids […] I would want to do everything ahead of time […] I would want them to see me in a good light. I don't want them to remember me in a sick state.” – SB31 | “I want to participate in any learning possible and because I already had a negative one, let’s just do it and get the rest of it, and it’ll hopefully be negative, too. And then I can rest easy and sleep well.” – MK40 |