Recall by genotype (RbG) studies aim to better understand the phenotypes that correspond to genetic variants of interest, by recruiting carriers of such variants for further phenotyping. RbG approaches pose major ethical and legal challenges related to the disclosure of possibly unwanted genetic information. The Cooperative Health Research in South Tyrol (CHRIS) study is a longitudinal cohort study based in South Tyrol, Italy. Demand has grown for CHRIS study participants to be enrolled in RbG studies, thus making the design of a suitable ethical framework a pressing need. We here report upon the design of a pilot RbG study conducted with CHRIS study participants. By reviewing the literature and by consulting relevant stakeholders (CHRIS participants, clinical geneticists, ethics board, GPs), we identified key ethical issues in RbG approaches (e.g. complexity of the context, communication of genetic results, measures to further protect participants). The design of the pilot was based on a feasibility assessment, the selection of a suitable test case within the ProtectMove Research Unit on reduced penetrance of hereditary movement disorders, and the development of appropriate recruitment and communication strategies. An empirical study was embedded in the pilot study with the aim of understanding participants’ views on RbG. Our experience with the pilot study in CHRIS allowed us to contribute to the development of best practices and policies for RbG studies by drawing recommendations: addressing the possibility of RbG in the original consent, implementing tailored communication strategies, engaging stakeholders, designing embedded empirical studies, and sharing research experiences and methodology.

基因型召回 (RbG) 研究旨在通过招募此类变异的携带者进行进一步的表型分析，从而更好地了解与感兴趣的遗传变异相对应的表型。RbG 方法对披露可能不需要的遗传信息提出了重大的伦理和法律挑战。南蒂罗尔州合作健康研究 (CHRIS) 研究是一项位于意大利南蒂罗尔州的纵向队列研究。对 CHRIS 研究参与者参加 RbG 研究的需求不断增长，因此迫切需要设计一个合适的伦理框架。我们在此报告与 CHRIS 研究参与者进行的 RbG 试点研究的设计。通过查阅文献并咨询相关利益相关者（CHRIS 参与者、临床遗传学家、伦理委员会、全科医生），我们确定了 RbG 方法中的关键伦理问题（例如 环境的复杂性、遗传结果的交流、进一步保护参与者的措施）。试点的设计是基于可行性评估、在 ProtectMove 研究部门内选择合适的测试案例以降低遗传性运动障碍的外显率，以及制定适当的招募和沟通策略。试点研究中嵌入了一项实证研究，旨在了解参与者对 RbG 的看法。我们在 CHRIS 进行试点研究的经验使我们能够通过提出建议为 RbG 研究的最佳实践和政策的发展做出贡献：在原始同意中解决 RbG 的可能性，实施量身定制的沟通策略，吸引利益相关者，设计嵌入式实证研究，