Skip to main content
. 2019 Mar 8;27(7):1008–1017. doi: 10.1038/s41431-019-0352-2

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