Objectives: We aimed to determine opinions from the available literature about: 1. whether individual genomic research results should be disclosed to participants; 2. what types of results should be disclosed; and 3. what factors affect these decisions.
Methods: We performed a systematic review with comprehensive search of MEDLINE and EMBASE for quantitative and qualitative studies on the opinions of researchers and participants, in the context of autism genomic research. We included only English publications. Papers presenting ethical arguments alone were excluded.
Results: We identified 2 quantitative and 1 qualitative studies. The 2 quantitative surveys involved only researchers (N=168) or participants (N=158) with response rates of 40% and 41% respectively. The qualitative study involved both (23 researchers and 34 participants) and the response rate was not stated. Almost all (97%) participants wished to obtain individual research results, whether favorable or not, irrespective of whether they would act upon the results. Majority of researchers (80%) agreed that clinically significant findings should be disclosed, while those of uncertain significance should not be reported (85%). “Clinical significance” depends on whether the genetic finding is robust, well-replicated, or incidental. Researchers with clinical interpretive role or capability to explain the results are more inclined to disclose. Integrating the opinions of both parties, the qualitative study found that report ability is related to perceived meaning to participants, evidentiary standards, and epistemological commitments regarding the role of genetics in autism and concluded that disclosure standards remained context-specific and not universal.
Conclusions: Our systematic review provides limited guidance on genomic research disclosure and the meaning of “clinical significance” remains subjective and poorly defined. All included studies are susceptible to response bias and selection bias limiting validity and generalizability. Based on our understanding of the family’s wish prior to informed consent, we chose to disclose the finding with detailed genetic counseling, emphasizing the scarcity of evidence to support the apparent clinical significance of the DISC1 duplication. The father of the participant decided to withdraw from the project, opted not to receive any further information, but still allowed us to report the research findings for the contribution to science. Research with larger samples evaluating different scenarios is needed to guide the decision-making process on result disclosure and to explore the ethical and legal responsibility of researchers. However, the ultimate disclosure standards will be context-specific and require individualized considerations for different participants, given the complexity of the issue.
B Chung and D Cheuk have equal contribution