Godino Lea, Battistuzzi Linda, Varesco Liliana, Turchetti Daniela, Gentili Vanessa, Chiari Paolo, Palese Alvisa
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy.
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
J Community Genet. 2025 Mar 18. doi: 10.1007/s12687-025-00783-6.
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.
认知访谈是一种宝贵的定性方法，用于开发和完善调查问卷，特别是针对诸如遗传健康等复杂主题的问卷。它们有助于解决预期含义与受访者理解之间的误解，提高数据有效性并确保可理解性。本研究旨在完善一份调查问卷，该问卷旨在探究意大利普通民众对家庭内部潜在遗传疾病信息沟通的态度和偏好。通过反复测试，识别并解决了与问卷说明、问题措辞以及主题敏感性相关的问题。大多数问题出现在第一轮认知访谈中，而第二轮仅需要进行细微的完善。定性分析确定了四个关键主题，反映了参与者在理解遗传信息方面面临的挑战：（1）对遗传学术语的困难，包括基因名称和科学行话，这引发了焦虑并阻碍了理解；（2）“基因检测”和“家庭”这两个术语的模糊性，对基因检测的性质以及遗传背景下“家庭”的范围存在困惑；（3）将“遗传风险”误解为现有的疾病诊断而非概率概念，导致对遗传易感性的影响产生误解；（4）在遗传信息沟通中“授权”和“责任”的混淆，由于隐私和保密方面的不确定性而进一步复杂化。本研究的结果为问卷的针对性修改提供了依据，以提高其清晰度和可及性。我们的研究强调了认知访谈在完善遗传信息沟通调查问卷工具方面的重要性，确保此类工具能够有效捕捉公众认知并促进明智的决策。
