What Is a Meaningful Result? Communicating the Results of Genetic Research in Autism

Background: Recent commentaries have argued that to honor the principles of respect for persons, beneficence and reciprocity, researchers bear an obligation to report genetic research findings to study participants (Shalowitz and Miller 2005, 2007, 2008; Ravitsky and Wilfond 2006; Fernandez et al 2003; Knoppers et al 2006). Clinical utility is regarded as a core criterion around which a judgment about disclosure should be made (Ravitsky and Wilfond 2006). Others contend that such clinical standards are far from clear and that ethical duties may neither be well served if results are disclosed nor denied if they are not (Miller et al 2008).

Objectives: To contribute to this debate and inform policy and practice related to the communication of genetic research results to individual research participants, we sought to understand the experiences and beliefs of researchers engaged in genetics research in autism.

Methods: Researchers involved in studies designed to examine the genetics of autism spectrum disorders (ASD) were invited to participate in telephone or in-person semi-structured interviews about their beliefs, practices and expectations related to the research encounter and the putative obligation to report research results to study participants – specifically, genetic test results relevant to individual participants. Relevant respondents were identified in Canada, the US, the UK, and Europe through publicly available sources (i.e., academic publications, research group websites, etc.) and snowball sampling. Interview transcripts were analyzed qualitatively using constant comparison, reflexivity, and writing as an analytic device. In this analysis, we sought to better understand the nature of the meaning that researchers' assign to genetic research results.

Results: 23 researchers participated in this study. A first finding is that researchers are motivated to pursue their work, in part, by the perceived importance of understanding the causes of ASD; while recognizing that ASD is a complex, multi-factorial set of disorders, most believe that genetic factors are fundamental to their etiology. Second, most researchers believe that participants share their interest in understanding the causes of ASD, and further, believe that research findings that illuminate genetic causes would be valued by participants and warrant reporting. Despite this, researchers are not uniform in their views of what actually constitutes a ‘meaningful result' in the context of ASD genetics research. Different evidentiary standards and theoretical assumptions are brought to bear in judging whether specific findings are meaningful enough to warrant reporting, including the relevance of a Mendelian logic, the co-existence of an expected phenotype, or a particular standard of molecular or statistical evidence. What is sufficiently meaningful to return to participants appears not only to be a function of attributes of the result itself, but also a function of other commitments and interests, including the opportunity that a given result presents to pursue additional research.

Conclusions: If clinical utility is to remain the standard that governs the return of genetic research results to study participants, itself an open question, our data suggest that what constitutes a ‘meaningful result', and by extension, clinical utility - in the context of ASD - is far from resolved.