Our respondents believed that genetic research results that could explain the cause of autism warranted disclosure. Such results explained ‘why,' and could permit the identification and management of reproductive risks. Ethics guidance differs on when individually relevant genetic research results should be disclosed to individuals: when results identify serious and avertable health risks, have significance for life and reproductive planning, or are simply of interest.15
Our respondents set a standard for reportability that is more specific: a standard that reflects the metaphysical value that genetic information is seen to offer in the autism context.
Yet if our respondents agreed on the kind of meaning that autism genetics research results might fruitfully yield, they differed regarding when this goal might be achieved. They articulated discipline-specific norms regarding validity and paradigmatic differences regarding epistemology – that is, regarding the nature of autism and the way in which it may or may not be thought of as ‘genetic.'
Researchers reported several disciplinary logics that established different standards of proof. Two of these logics – the clinical and biological – found support in individual cases. From this perspective, the disclosure of specific research results could be a tool for advancing knowledge, allowing researchers to explore the clinical sequelae of genetic variations, or strengthen the index of suspicion for candidate genes. In these cases, informing families of a suggestive research finding seemed to both answer the family's need for meaning, however uncertain, and provide researchers with additional data to fuel investigation. This rationale was disputed by the third logic – statistical – which sought proof in populations. From this perspective, disclosing results for research made little sense. Large control populations, avoidance of ascertainment bias, and statistical tests of significance were needed if results were to have meaning for researchers or families. Indeed, these differences in standards of proof render illusory the seeming consensus regarding the ‘meaning' that results might usefully achieve.
Underpinning these debates about standards of proof in specific instances were fundamental theories about the role of genetics in autism, and to a lesser extent, the nature of autism itself. Whether specific genetic research results were likely to explain cause was a function of respondents' epistemological stance. Those who expected genetic information to guide personalized risk prediction would attribute greater meaning to specific findings than those who questioned this hypothesis, irrespective of the standard of proof brought to bear. Less evident in respondents' comments, though highly relevant to the interpretation of research findings, is the status of autism as one or a multiplicity of disorders. Biomedical research does not simply explain the cause of given disorders, it also explains their nature – lumping or splitting disease categories and establishing or denying biological, clinical and social affinities.5, 25
Autism is currently defined by a complex set of behavioral and cognitive signs and symptoms, with a broad spectrum of types and degrees of disorder. Whether autism can be adequately defined by a set of common biological pathways or is better conceived as a heterogeneous collection of disparate conditions remains to be seen.4
Yet epistemological debates about the nature of autism and the role of genetics in its causation are not resolved by single studies. Indeed, it may be that researchers are not always conscious of the ways in which their theories and assumptions about the nature and cause of a psychiatric disorder as complex as autism inform their judgments about validity or potential meaning. Resolving such paradigmatic commitments is the role and obligation of biomedical research. Yet this requires that studies contend with each other over time in order to establish or contest the ‘truth' about the nature or etiology of disease. It requires also that researchers be clear and transparent about the extent of their disagreements – over epistemology, standards of proof, or standards of meaning. Finally, it requires that research participants be engaged not simply at the level of meaning – what kinds of results they would like to receive – but also at the more contested and complex levels of validity or epistemology. Efforts to honor participants' desires for meaningful information are surely misplaced if the purported meaning rests on unspoken or contested methodological or epistemological foundations.
These findings have implications for two different audiences. For research ethics, these findings suggest that establishing a context-free set of obligations for reporting research results to individual research participants may be beyond our grasp. This is not to say that no obligations exist, but that to imagine that standard ethical norms can be established for research results, as they can be established for research processes, is to confuse and conflate the one with the other. Psychiatric genetics research asks fundamental questions: What is the nature of a disorder? What is the role of genetics in its causation? Researchers differ in their preferred answers to these questions and differ also in the standards of proof required to support their answer. Given these differences, achieving consensus to avoid idiosyncrasy in disclosure standards across research teams would be difficult indeed. Yet even if consensus could be achieved, disclosure standards would remain specific to disease context because the meaning that the ‘best' results can provide differs by research domain: in cancer genetics this meaning will be prediction linked to prevention/treatment, but in autism genetics this meaning may only be knowledge of causation, full stop.
For members of the research community who struggle to conform to emerging ethical imperatives, these findings should give pause. Disclosure of results to individuals to support further research or out of a desire to ‘help' families cannot be a sufficient rationale. Disclosure must be justified by clarity regarding what evidentiary standards are appropriate, and due consideration to the status of real-time epistemological debates regarding the nature and cause of a given disorder.
For both research ethicists and researchers, the goal of consistent and ethically defensible standards for reporting research results faces significant feasibility challenges. Can researchers be transparent and achieve consensus about matters of methodological and epistemological contention? Can ethical guidance help to resolve these disagreements? Further, will researchers serve their own interests in attending to an obligation to disclose research results, and will their interests align with those of research participants? Does the emphasis on hoped-for meaning – what participants want – distract all stakeholders from attending sufficiently closely to the questions of methodology and epistemology that are necessarily at issue in research contexts? Finally, even if we manage these technical and substantive challenges, fundamental normative questions remain: Is it the role of research to adjudicate clinical meaning or the actionable status of genetic results, and can it be the role of research to ensure appropriate access to such clinical goods? In our view, until the debate on disclosure of research findings engages the complexities of the research encounter more fully, the intention to report individual genetic research results to research participants must remain a consideration rather than a uniform or universal obligation.16