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

Epilepsy Return of Results Workshop Participants

Research output: Contribution to journalComment/debate

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1635-1642
Number of pages8
JournalEpilepsia
Volume59
Issue number9
DOIs
StatePublished - Sep 1 2018

Fingerprint

Epilepsy
Research
Financial Support
Disclosure
Genome
Costs and Cost Analysis

Keywords

  • epileptic encephalopathy
  • genetics
  • pathogenic variants
  • research ethics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Epilepsy Return of Results Workshop Participants. / Return of individual results in epilepsy genomic research : A view from the field. In: Epilepsia. 2018 ; Vol. 59, No. 9. pp. 1635-1642.
@article{22751f8f4e7948468b5e87546c35eb9d,
title = "Return of individual results in epilepsy genomic research: A view from the field",
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",
author = "{Epilepsy Return of Results Workshop Participants} and Ruth Ottman and Catharine Freyer and Mefford, {Heather C.} and Annapurna Poduri and Lowenstein, {Daniel H.} and Appelbaum, {Paul S.} and Wylie Burke and Tracy Dixon-Salazar and Dennis Dlugos and Fisher, {Robert S.} and Helbig, {Katherine L.} and Laurie Herraiz and Ingrid Holm and Melanie Huntley and Barbara Koenig and Laux, {Linda C} and Brenda Porter and Shannon Sewards and Sheidley, {Beth R.}",
year = "2018",
month = "9",
day = "1",
doi = "10.1111/epi.14530",
language = "English (US)",
volume = "59",
pages = "1635--1642",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell",
number = "9",

}

Epilepsy Return of Results Workshop Participants 2018, 'Return of individual results in epilepsy genomic research: A view from the field', Epilepsia, vol. 59, no. 9, pp. 1635-1642. https://doi.org/10.1111/epi.14530

Return of individual results in epilepsy genomic research : A view from the field. / Epilepsy Return of Results Workshop Participants.

In: Epilepsia, Vol. 59, No. 9, 01.09.2018, p. 1635-1642.

Research output: Contribution to journalComment/debate

TY - JOUR

T1 - Return of individual results in epilepsy genomic research

T2 - A view from the field

AU - Epilepsy Return of Results Workshop Participants

AU - Ottman, Ruth

AU - Freyer, Catharine

AU - Mefford, Heather C.

AU - Poduri, Annapurna

AU - Lowenstein, Daniel H.

AU - Appelbaum, Paul S.

AU - Burke, Wylie

AU - Dixon-Salazar, Tracy

AU - Dlugos, Dennis

AU - Fisher, Robert S.

AU - Helbig, Katherine L.

AU - Herraiz, Laurie

AU - Holm, Ingrid

AU - Huntley, Melanie

AU - Koenig, Barbara

AU - Laux, Linda C

AU - Porter, Brenda

AU - Sewards, Shannon

AU - Sheidley, Beth R.

PY - 2018/9/1

Y1 - 2018/9/1

N2 - 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.

AB - 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.

KW - epileptic encephalopathy

KW - genetics

KW - pathogenic variants

KW - research ethics

UR - http://www.scopus.com/inward/record.url?scp=85052573129&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85052573129&partnerID=8YFLogxK

U2 - 10.1111/epi.14530

DO - 10.1111/epi.14530

M3 - Comment/debate

C2 - 30098010

AN - SCOPUS:85052573129

VL - 59

SP - 1635

EP - 1642

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 9

ER -

Epilepsy Return of Results Workshop Participants. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia. 2018 Sep 1;59(9):1635-1642. https://doi.org/10.1111/epi.14530