# Developing a questionnaire to explore lay people’s preferences for communicating hereditary conditions within families: insights from a cognitive interview study

## TL;DR

This study improved a questionnaire about how people prefer to discuss hereditary health issues in families by addressing misunderstandings through interviews.

## Contribution

The study provides insights into refining genetic communication surveys using cognitive interviews to enhance clarity and reduce misinterpretations.

## Key findings

- Participants struggled with genetic terminology, causing anxiety and confusion.
- Misunderstandings arose around terms like 'genetic testing' and 'family' in genetic contexts.
- Participants often misinterpreted 'genetic risk' as a confirmed diagnosis rather than a probability.

## Abstract

Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring the attitudes and preferences of the Italian general population regarding the communication of potential hereditary conditions within families. Through iterative testing, issues related to questionnaire instructions, question wording, and the sensitive nature of the topics were identified and addressed. Most concerns emerged in the first round of cognitive interviews, while the second round only required minor refinements. The qualitative analysis identified four key themes reflecting participants’ challenges in understanding genetic information: (1) difficulties with genetic terminology, including gene names and scientific jargon, which induced anxiety and hindered comprehension; (2) ambiguities surrounding the terms "genetic testing" and "family," with confusion about the nature of genetic testing and the scope of "family" in genetic contexts; (3) misinterpretations of "genetic risk" as an existing disease diagnosis rather than a probabilistic concept, leading to misunderstandings about the implications of genetic predisposition; and (4) conflation of "authorization" and "responsibility" in genetic communication, further complicated by uncertainty regarding privacy and confidentiality. Findings from this study informed targeted modifications to the questionnaire to enhance its clarity and accessibility. Our study highlights the importance of cognitive interviewing in refining survey tools on genetic communication, ensuring that such instruments effectively capture public perceptions and facilitate informed decision-making.

The online version contains supplementary material available at 10.1007/s12687-025-00783-6.