How do research participants perceive "uncertainty" in genome sequencing?

Area of Science:

• Genomic Medicine
• Health Communication
• Bioethics

Background:

• Genome sequencing offers unprecedented health insights but involves inherent uncertainty.
• Patient understanding and perception of this uncertainty are critical for effective healthcare.
• Previous research has not fully explored how uncertainty influences patient engagement with genomic data.

Purpose of the Study:

• To investigate how adults perceive uncertainty in genome sequence information.
• To determine if perceptions of uncertainty predict decisions to learn and act on genomic health information.

Main Methods:

• Conducted six focus groups with 39 ClinSeq participants.
• Participants varied by coronary heart disease status and prior sequence result receipt.
• Elicited perceptions of genome sequencing uncertainty using written prompts.

Main Results:

• Participants viewed uncertainty as dynamic and evolving, leading to optimistic expectations.
• A subset perceived uncertainty negatively, as "questionable" or "limited," causing disillusionment.
• Perceptions of uncertainty were linked to underlying beliefs about information quality.

Conclusions:

• Patient perceptions of uncertainty in genome sequencing are tied to their epistemological beliefs.
• Interventions should focus on fostering realistic expectations to manage negative responses to uncertainty.
• Addressing uncertainty perceptions can improve patient engagement with genomic health information.