Abstract
To leverage existing genetic and genomic data, bottom-up approaches such as Recall-by-Genotype (RbG) have been used to conduct follow-up studies in biobanks. Genetic information may be partially disclosed when certain participants are recalled for RbG studies, and information on the study design and eligibility criteria are provided. This and other peculiarities of RbG approaches have ethical, legal, social, and societal implications. We present empirical studies with various stakeholders developed to refine the CHRIS RbG policy.
The Cooperative Health Research in South Tyrol (CHRIS) and ProtectMove study used RbG approaches to investigate genetic risk factors for Parkinson's disease. CHRIS participants were recalled based on the presence of a particular genotypic variant in the Parkin gene, either genotypically inconspicuous or with a single heterozygous variant that may slightly increase the risk for some attenuated clinical symptoms. Individual carrier status was not disclosed, the disease and the variant studied were. Alongside the RbG study, we surveyed participants, and the results display heterogeneity in positions on disclosure. Further studies with larger samples are needed to clarify trends and more nuanced stakeholder views.
In focus group discussions with researchers and CHRIS study personnel, difficulties with communication strategies of RbG eligibility criteria and the family-based approach were discussed. Specifically for cases with studies about genetic variants with unclear significance. Researchers agreed on the value of tailored case-by-case solutions to ease the potential impact of partial disclosure on participants, families, and cohorts. Further research is needed to contextualize these findings into policies for other RbG studies.