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Epilepsia. 2018 Sep;59(9):1635-1642. doi: 10.1111/epi.14530. Epub 2018 Aug 10.

Return of individual results in epilepsy genomic research: A view from the field.

Author information

1
Departments of Epidemiology and Neurology, and G. H. Sergievsky Center, Columbia University, New York, New York.
2
Division of Translational Epidemiology, New York State Psychiatric Institute, New York, New York.
3
Department of Neurology, University of California, San Francisco, San Francisco, California.
4
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
5
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
6
Department of Neurology, Harvard Medical School, Boston, Massachusetts.

Abstract

Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K. Disclosure of individual results to participants in genomic research is increasingly viewed as an ethical obligation, but strategies for return of results were not included in the design of these consortia, raising complexities in establishing criteria for which results to offer, determining participant preferences, managing the large number of sites involved, and covering associated costs. Here, we describe the challenges faced, alternative approaches considered, and progress to date. Experience from these 2 consortia illustrates the importance, for genomic research in epilepsy and other disorders, of including a specific plan for return of results in the study design, with financial support for obtaining clinical confirmation and providing ongoing support for participants. Participant preferences for return of results should be established at the time of enrollment, and methods for allowing future contacts with participants should be included. In addition, methods should be developed for summarizing meaningful, comprehensible information about findings in the aggregate that participants can access in an ongoing way.

KEYWORDS:

epileptic encephalopathy; genetics; pathogenic variants; research ethics

PMID:
30098010
PMCID:
PMC6119474
[Available on 2019-09-01]
DOI:
10.1111/epi.14530
[Indexed for MEDLINE]

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