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. 2024 Dec;15(6):615-630.
doi: 10.1007/s12687-024-00733-8. Epub 2024 Sep 26.

How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study

Katharina Tschigg  1   2 , Luca Consoli  3 , Norbert Brüggemann  4   5 , Andrew A Hicks  2 , Ciara Staunton  2   6 , Deborah Mascalzoni  7   8 , Roberta Biasiotto  2   9
Affiliations

How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study

Katharina Tschigg et al. J Community Genet. 2024 Dec.

Abstract

Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers' and study personnel's experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6%) wanted to know their carrier status for personal and collective benefit. Tailored disclosure strategies and transparent, effective, and well-thought-out communication approaches were advocated by study personnel (Step 2, N = 6) and researchers (Step 3, N = 7). Challenges in dealing with uncertainty, concerns caused by RbG invitations, and the possibility of misunderstanding were also raised. In step 4 (N = 369), participants valued being informed of study details at the first invitation stage, and generally felt comfortable towards RbG study invitations (58.5%) and to receiving genetic information after the study (58.5-81.6%). Comfort and perceived impact of disclosure of genetic information varied according to the type of variant being potentially disclosed. This study suggested designing communication strategies, based on clear and understandable explanations, sensitive to participant expectations and preferences, developing case-by-case solutions for disclosure.

Keywords: Communication; Disclosure of genetic information; Informed consent; Policy; Recall-by-genotype; Research participants.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). The study protocol for this research has received approval from the Ethics Committee of the South Tyrolean Health Care System (Azienda Sanitaria dell’Alto Adige), reference number “Punto 9 seduta 16/04/2022”. The CHRIS participants invited in the RbG2 study were informed by an invitation letter with information material explaining the details of the RbG study about the research project focus, study background and location, examination program and process of receiving feedback from the examination with the doctors, confidentiality, risks and voluntary participation, funding and collaborations, data protection and privacy, benefits and foreseen impact of the study and the participant rights. For the survey with RbG2 study participants (Step 1), written informed consent was obtained from all participants before the RbG study commenced. The consent process included providing detailed information about the study, its objectives, the data collection procedures, and the potential risks and benefits of participation. Participants were informed of their rights, including the right to withdraw from the study at any time without consequences. Further, they could address considerations or ask for clarifications from the study personnel throughout the informed consent process. For Step 4, written informed consent was obtained from participants through the original CHRIS consent and through specific consent to participate in the survey (integrated into the survey platform, before starting the survey). For the FGDs with study personnel (Step 2) and researchers (Step 3), verbal consent was obtained from all participants. Participants were provided with information about the purpose of the discussions, the topics to be covered, and the voluntary nature of their participation. During the FGD data analysis, identifiable information was replaced with nonidentifiable titles. Both RbG studies mentioned here (RbG1 and RbG2) received ethical approval and all participants gave written informed consents. Conflict of interest: The authors declare no competing interests.

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