Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review.

Katharina Tschigg, Luca Consoli, Roberta Biasiotto, Deborah Mascalzoni
Author Information
  1. Katharina Tschigg: Department of Cellular, Computational, and Integrative Biology, University of Trento, Trento, Italy. katharina.tschigg@eurac.edu. ORCID
  2. Luca Consoli: Institute for Science in Society, Radboud University, Nijmegen, Netherlands.
  3. Roberta Biasiotto: Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy. ORCID
  4. Deborah Mascalzoni: Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy. ORCID

Abstract

Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-driven research approaches. The recall strategies disclose or withhold personal genotypic information with uncertain clinical utility. Accordingly, this scoping review aims to identify peculiar, explicit and implicit ethical, legal, and societal/social implications (ELSI) of RbG study designs. We conducted a systematic literature search of three electronic databases from November 2020 to February 2021. We investigated qualitative and quantitative research methods used to report ELSI aspects in RbG research. Congruent with other research findings, we identified a lack of qualitative research investigating the particular ELSI challenges with RbG. We included and analysed the content of twenty-five publications. We found a consensus on RbG posing significant ethical issues, dilemmas, barriers, concerns and societal challenges. However, we found that the approaches to disclosure and study-specific recall and communication strategies employed consent models and Return of Research Results (RoRR) policies varied considerably. Furthermore, we identified a high heterogeneity in perspectives of participants and experts about ELSI of study-specific RbG policies. Therefore, further fine-mapping through qualitative and empirical research is needed to draw conclusions and re-fine ELSI frameworks.

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MeSH Term

Biological Specimen Banks
Genomics
Genotype
Humans
Morals
Research Report

Word Cloud

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