Possibility Of Incidental Findings Research Articles

Genetic investigation in dementia: new interpretive challenges

Genetic testing is increasingly used in the assessment and investigation of individuals with dementia and cognitive impairment. Next generation sequencing dementia panels allow simultaneous parallel examination of multiple genes. But with this increased diagnostic power comes also the possibility of incidental findings, of identifying sequence variants which are benign rather than pathogenic. Dr Larner and colleagues discuss two such cases.

Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.

Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease.

Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance

BackgroundGenomic research is challenging the tradition of informed consent. Genomic researchers in the USA, Canada and parts of Europe are encouraged to use informed consent to address the prospect of...

Incidental findings in neuroimaging research: a framework for anticipating the next frontier.

While strategies for handling unusual and possibly clinically significant anatomical findings on brain scans of research volunteers have been developed and implemented across neuroimaging laboratories worldwide, few concrete steps have been taken to consider the next frontier: functional anomalies. Drawing on the genetics literature, early work in neuroimaging considered actionability to be a driving force for determining if and when findings should be disclosed to individuals in whom they are detected, as inherent uncertainty raises potential ethical dilemmas of misdiagnosing and mislabelling people as patients. Here we consider the possibility of incidental findings in brain function during the resting state. Our approach does not anchor the resting state as the sine qua non of functional incidental findings, but as a path to thinking about where they may emerge in the future and how our professional communities need to think about thinking about them. We suggest that considering the issues proactively today, within a framework that is maximally flexible and open to modification, is better than responding reactively after the fact and with no framework at all. We argue that there is a duty to consider possible incidental findings despite the ambiguities of data interpretation, while working hard to prevent unnecessary alarm.