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Table 1 Overview of ethical concerns in GDR and assessment whether current recommendations suffice for a broader use of GDR

From: Genotype-driven recruitment: a strategy whose time has come?

Ethical concerns in GDR Published recommendations Do the recommendations suffice under a broader use of GDR?
Risk of violating the individual’s privacy and right not to know if genetic information is implicitly unveiled during re-contact [1, 3, 4] Inform about potential re-contact and future disclosure in the informed consent of original study [2, 6, 7, 12] No: informed consent process may not have taken place before genotyping
  Offer the individual the possibility to choose whether she wants to be involved in future GDR studies [24, 6, 7] No: choice to participate in future GDR studies may not have been given
  Design re-contact process in consultation with the Institutional Review Board (IRB) of the original study [6, 7] No: contact with/identification of the IRB of the original study may not be possible
Risk that the individual enrolled does not understand why she is eligible for the GDR study [9, 14] Take into consideration the context into which the individual is invited to participate in GDR (e.g. previous participation in research, previous research focusing on similar condition) [6, 7, 14] No: the research background of the individual may be unknown to the researcher inviting to join a GDR study
Risk of creating unnecessary anxiety and distress for the individual re-contacted [1] Contact by known and/or trusted health professional [3, 4, 7] No: the individual may receive an invitation to participate in an original GDR study from unknown researchers
Risk of deceiving the individual if he is not informed about the reasons for enrolment [1] Return genetic results to the individual more systematically than in other research designs [1, 3, 6, 7, 9, 15, 17] No: the individual may not have been prepared to receive genetic results
Risk of group/individual discrimination and/or stigmatisation if re-identification is possible through the analysis of the study’s pedigree description [1] Add randomly selected sub-groups in case-only studies [1] Yes: randomly selected sub-groups could also be added in original GDR case-only studies
Risk of provoking emotional distress for the individual if the results disclosed are uncertified, have low clinical utility [1, 3, 5] or if they indicate the presence of a rare variant of significance for the health of the individual [1, 4, 9] Return only results which are clear, concise, and accurate and explain the meaning and utility of the results [1, 7, 9, 15, 17, 18] No: individuals may not have been prepared to receive genetic results
  Use consistent disclosure criteria as agreed beforehand with individuals [8, 15] No: process to reach agreement beforehand on which results to return may not have taken place
  Design the return of results process in consultation with the IRB of the original study [7] No: contact with the IRB of the original study may not be possible
  Take into consideration the context of the research, the relationship between research and research participant, and the degree of vulnerability and dependence of the research participant [5, 7, 9] No: the personal/research background of the individual may be unknown to the researcher inviting to join a GDR study
Risk of making the individual re-contacted the carrier of bad news for non-contacted family members [1, 4, 9] Include recruitment of family members as part of the research protocol [4] No: individuals may not have had the opportunity to consent to the invitation of their relatives into the GDR study
Risk of harassing the individual if multiple re-contact for inclusion in GDR studies takes place [1] Make use of independent governance bodies (e.g. centralised ethics committee or data access committee) which can determine which individuals to re-contact [2, 10] No: governance bodies may not be co-ordinated across publicly funded and privately funded projects
  Inform the individual about the role of governance bodies in the consent of the original study [10] No: informed consent process may not have taken place before genotyping
  Make use of flexible and less intrusive electronic information exchange systems for communication with research participants [2] No: communication systems may not be established between the researchers inviting to participate in a GDR study and the individuals receiving the invitation