Ethical, Legal and Social/Societal Implications (ELSI) of Recall-by-Genotype (RbG) approaches in the Cooperative Health Research in South Tyrol (CHRIS) study on genetic risk factors of Parkinson’s disease (PD)

Recall-by-genotype (RbG) strategies are bottom-up approaches to conducting targeted follow-up studies or substudies with eligible participants. They use specific genetic information derived from pre-vious genome-wide association studies or whole-genome sequenc-ing enabled by next-generation sequencing. Genetic information may be partially disclosed when certain partici-pants are recalled for RbG studies, and information on the study design and eligibility criteria is provided. These distinguishing pecu-liarities of RbG approaches have ethical, legal, and social/societal implications (ELSI). In this thesis, we present and discuss the results of research on the ELSI aspects of RbG approaches and within the Cooperative Health Research in South Tyrol (CHRIS) studies (RbG1, RbG2) on genetic risk factors of Parkinson's disease (PD). We used various qualitative and quantitative methods, including in-terviews, surveys and focus group discussions (FGD). Thereby, we sought to address the need for qualitative data from diverse stake-holders, including critical voices in the CHRIS research ecosystem, such as participants, researchers, ethics board members, and study assistants, to develop effective recall and communication strategies through a collaborative approach refining the CHRIS RbG policy. The exploration began with a literature review revealing the explicit and implicit ELSI of RbG study designs. It uncovered a consensus on the significant ethical challenges RbG poses while highlighting the diversity in consent models and Return of Research Results (RoRR) policies employed in different research and biobanking con-texts. Then, a secondary analysis of interviews and surveys from a mixed-methods study with CHRIS RbG participants from the RbG pilot study (RbG1) followed. Alongside the second follow-up RbG study (RbG2) study, we then designed a survey, informed by the results of RbG1, to gather further perspectives on their experience of an RbG study, and other fundamental considerations pertinent to en-gagement and communication in RbG studies. Then, to explore the operational and practical aspects of RbG studies, we identified the relevant stakeholders who shape and decide on RbG study designs. Consequently, we designed and conducted FGD to examine stake-holder perspectives on the RbG study design, communication, and disclosure strategies. Further, we collected feedback and views from CHRIS study personnel and coordinators who accompanied the RbG1 and 2 study process. Finally, we conducted a large-scale sur-vey with CHRIS participants to strengthen the conclusions of previ-ous empirical research. This collaborative approach aims to refine the CHRIS RbG policy, develop effective recruitment and commu-nication strategies, and promote transparency. The study's findings underscore the value of personalised engage-ment and sensitive communication through tailored disclosure and communication strategies. Stakeholder views on ELSI in RbG stud-ies reveal diversity, highlighting the need for adaptable approaches aligned with study contexts. Overall, the results suggest that partici-pants are highly interested in receiving information on carrier status on the genetic variations investigated by the RbG study, but views and motivations were heterogeneous. This adds to the complexity of integrating these insights into communication strategies and disclo-sure policies. More research is necessary to investigate the effects of various disclosure strategies, the impact of disclosure on awareness, and how framing affects participants' reception of study-specific information.

Grantor dc:publisher

Università degli studi di Trento

Year dc:date

2023

Author dc:creator

• Tschigg, Katharina

Contributors dc:contributor

• Advisor: R. Biasiotto
• Denti, Michela Alessandra

• ELSI, RbG, CHRIS, biobank, ethics, stakeholder engagement
• Settore BIO/18 - Genetica

Statement dc:rights

• info:eu-repo/semantics/openAccess
• license:Tutti i diritti riservati (All rights reserved)
• license uri:iris.PRI01

Language dc:language

eng

Identifier

http://dx.doi.org/10.15168/11572_398629
10.15168/11572_398629

OAI identifier oai:identifier

oai:iris.unitn.it:11572/398629