Issues surrounding whether and when to offer individual genetic research results—within the broad context of genomic research and the narrower context of genotype-driven recruitment—will ultimately be informed by views from bioethicists, IRB leaders, researchers, clinicians, and research participants (who may also be patients). Others have reported opinions from the general population on the return of genetic research results (Beskow & Smolek, 2009
; Kaufman et al., 2008
; Murphy et al., 2008
) that were predominantly favorable. Our findings differ in that they focused specifically on the context of genotype-driven recruitment in a population with a known condition who were asked about the prospect of receiving results from a study in which they actually participated. Our objective in this analysis was to describe some of the dominant themes within epilepsy patient-participants’ discussions of returning research results in the context of genotype-driven recruitment, to explore the various expectations, meanings, and interpretations that participants with a known condition may bring to individual genetic results. Our sample of participants, all of whom were diagnosed with epilepsy, anticipated that individual genetic research results would provide answers to four important questions: (1) Why do you want to study me more? (2) What have you learned about my condition? (3) Can epilepsy be passed on in a family? and (4) Is there anything (more) I can do? Each of these four questions—and the assumptions that underpin views that genetic results provide “answers”—has important implications for the debate about return of research results. Together they help inform the context-based evaluation of potential benefits and harms associated with offering individual genetic research results to research participants already diagnosed with the condition under study.
As highlighted by the first question, many of our participants identified the context of genotype-driven research recruitment as the specific justification for disclosure of individual research results. They emphasized the importance of understanding why
researchers were interested in them and the ability to make an informed decision about further participation. Interviewees noted that provision of results would likely increase willingness to participate in additional research, while withholding of results could have the opposite effect (Tabor et al., 2011
, report similar findings). Return of results in the context of research recruitment was also seen as evidence that one’s sample had been used, that research was progressing, and that there was reciprocity in the researcher/participant relationship. Despite these undeniably compelling reasons for disclosure, it is important to note that interviewees expressed expectations and interpretations of what genetic research results might mean that were sometimes erroneous. For example, the results generated in the epilepsy study suggested a possible association between DNA deletions and seizures but did not provide answers as to the cause or heritability of epilepsy, as a large portion of our sample expected. Thus, unambiguous and careful communication about the limitations of any research results disclosed to participants would be essential during genotype-driven recruitment activities.
The second question, reflecting epilepsy patient-participants’ search for more information about their condition and its causes, may derive from the nature of the condition itself. Defined “simply” as two or more unprovoked seizure events, epilepsy has many potential causes but, in most cases, the specific cause is unknown (“NINDS Epilepsy Information Page,” 2011
). Thus, many epilepsy patients and their families may have long been seeking an explanation for the condition. It is perhaps not surprising then that they would expect research results to provide these answers, raising concerns about the inclination to assign significant and potentially unwarranted meaning to any genetic research results returned.
Offering participants a lay-language summary of aggregate study findings could be a valuable way to let them know what researchers are learning about epilepsy and its causes, and to demonstrate reciprocity and gratitude for their contributions to the research. However, learning about aggregate results may raise questions in participants’ minds about their individual results (Beskow et al., 2011
); thus, provision of aggregate results from the first study may play a major role in informing prospective participants about the purpose of a genotype-driven follow-up study, but alone may not provide a complete solution to avoiding the disclosure of individual results with uncertain validity and utility.
The third question, about whether epilepsy can be passed on in families, suggests a strong interest in individual genetic research results as a source of answers about the heritability of epilepsy. Interviewees projected that research results would help them look both up and down the family tree for signs of epilepsy and extrapolated to what they might do with that information, including family planning, monitoring existing children or grandchildren, and notifying other family members for their
use in reproductive decision making and surveillance of children. With regard to both the search for answers and the desire to take action on behalf of their families, the epilepsy patient-participants in our sample are similar to parents of children with autism in their views on individual genetic research results (see Tabor et al., 2011
). This suggests that genetic research participants with a condition of unknown or uncertain origin may bring a set of expectations and assumptions to the research process that differs in important ways from not only “healthy” volunteers, but also from research participants who have a condition with known genetic etiology.
Finally, the question of whether there was anything more patient-participants could “do” based on receipt of individual results was answered by interviewees in a variety of ways, ranging from “no action” to having a physician look at and “fix” the problem gene. Interestingly, there was very little discussion about research results providing some clinical benefit or utility in the future, which may again reflect the current state of knowledge with regard to epilepsy. For example, where epilepsy patient-participants focused on finding answers about their condition and gave very little emphasis to the role of research results in providing hope for a new treatment or cure, discussion of new treatments was prominent among interviews with cystic fibrosis patient-participants, who have a known genetic disease (see Cadigan et al., 2011
). Parents of children with autism also spoke of genetic results in terms of potential improvements for treatment (Tabor et al., 2011
), perhaps indicative of differences in how adults conceptualize research for themselves and for their children, or a reflection of the momentum and advocacy for autism research. Thus, our findings emphasize the critical importance of evaluating approaches to return of individual results to participant populations differently depending on disease status, the nature of the condition, and the current state of knowledge about the condition, with awareness of what the study population is predisposed to think results will and will not mean.