Multidimensional Results Reporting to Participants in Genomic Studies: Getting It Right

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Science Translational Medicine  23 Jun 2010:
Vol. 2, Issue 37, pp. 37cm19
DOI: 10.1126/scitranslmed.3000809


  • Fig. 1. Multidimensional results reporting.

    Variables that we believe should inform the reporting of research results to study participants are indicated along three axes. Participant preference is indicated on the x axis, significance on the y axis, and communicability on the z axis. The labels of the values and their ordering are meant to be illustrative rather than normative, although in general, the further a given participant’s characteristics are from the origin in all dimensions, the more appropriate it is to communicate results. The challenge lies in situations in which characteristics in one or more dimensions are far from the origin and close to it in the other(s).



  • Table 1. Hypothetical situations addressed using the multidimensional results reporting model.

    Relevant axesSituation and outcome
    x axis, y axis A female participant’s X chromosome is found to have an androgen receptor mutation that confers a 50% risk to XY children for androgen insensitivity syndrome (which is responsible for a spectrum of phenotypes ranging from infertility to an individual appearing as a healthy female with internal male gonads). She has a daughter in her early teens. The participant states that she wishes to receive only information about conditions that are likely to be fatal for herself or offspring. The information is highly significant to fertility and for several life decisions, and under current standards should be communicated. The multidimensional results reporting model, however, would respect the participant’s preference, unless initial consent documents explained that, as a condition of the study, one could not opt out of such communications.
    Some would find that result troubling, but it respects her choice and protects her daughter from information not sought.
    x axis A participant desires to receive information that is unrelated to known conditions. One new research article links his gene sequence to susceptibility to a nonlethal infectious disease in his ancestral country. Current standards would bar this communication. This model permits it, if in a context in which the weight of one publication and the probabilistic effect of the gene variant are both clearly explained.
    z axis In a participant without a guardian who seeks all findings, linked phenotypic information suggests cognitive difficulties, the precise nature of which is hard to ascertain from linked records. Findings suggest a 20% probability of severe but treatable atherosclerosis. Under a traditional de-identified model, under which no results can be returned, this raises no actionable ethical issues with the participant. Here it prompts questions about what to communicate and how (because of potential cognitive difficulties), but also, as a positive consequence, questions about whether the original consent was valid and whether any review ought to be taken of the consenting process of the study itself.

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