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Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study

To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (n = 2535, mean age 63 ± 7, 57% female) were...

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Autores principales: Kochan, David C., Winkler, Erin, Lindor, Noralane, Shaibi, Gabriel Q., Olson, Janet, Caraballo, Pedro J., Freimuth, Robert, Pacyna, Joel E., Breitkopf, Carmen Radecki, Sharp, Richard R., Kullo, Iftikhar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198538/
https://www.ncbi.nlm.nih.gov/pubmed/32377377
http://dx.doi.org/10.1038/s41525-020-0127-2
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author Kochan, David C.
Winkler, Erin
Lindor, Noralane
Shaibi, Gabriel Q.
Olson, Janet
Caraballo, Pedro J.
Freimuth, Robert
Pacyna, Joel E.
Breitkopf, Carmen Radecki
Sharp, Richard R.
Kullo, Iftikhar J.
author_facet Kochan, David C.
Winkler, Erin
Lindor, Noralane
Shaibi, Gabriel Q.
Olson, Janet
Caraballo, Pedro J.
Freimuth, Robert
Pacyna, Joel E.
Breitkopf, Carmen Radecki
Sharp, Richard R.
Kullo, Iftikhar J.
author_sort Kochan, David C.
collection PubMed
description To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (n = 2535, mean age 63 ± 7, 57% female) were sequenced for 68 clinically actionable genes and 14 single nucleotide variants. Of 122 actionable results detected, 118 were returnable; results were returned by a genetic counselor—86 in-person and 12 by phone. Challenges in returning actionable results were encountered in a significant proportion (38%) of the cohort and were related to sequencing and participant contact. Sequencing related challenges (n = 14), affecting 13 participants, included reports revised based on clinical presentation (n = 3); reports requiring corrections (n = 2); mosaicism requiring alternative DNA samples for confirmation (n = 3); and variant re-interpretation due to updated informatics pipelines (n = 6). Participant contact related challenges (n = 44), affecting 38 participants, included nonresponders (n = 20), decedents (n = 1), and previously known results (n = 23). These results should be helpful to investigators preparing for return of results in large-scale genomic sequencing projects.
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spelling pubmed-71985382020-05-06 Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study Kochan, David C. Winkler, Erin Lindor, Noralane Shaibi, Gabriel Q. Olson, Janet Caraballo, Pedro J. Freimuth, Robert Pacyna, Joel E. Breitkopf, Carmen Radecki Sharp, Richard R. Kullo, Iftikhar J. NPJ Genom Med Article To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (n = 2535, mean age 63 ± 7, 57% female) were sequenced for 68 clinically actionable genes and 14 single nucleotide variants. Of 122 actionable results detected, 118 were returnable; results were returned by a genetic counselor—86 in-person and 12 by phone. Challenges in returning actionable results were encountered in a significant proportion (38%) of the cohort and were related to sequencing and participant contact. Sequencing related challenges (n = 14), affecting 13 participants, included reports revised based on clinical presentation (n = 3); reports requiring corrections (n = 2); mosaicism requiring alternative DNA samples for confirmation (n = 3); and variant re-interpretation due to updated informatics pipelines (n = 6). Participant contact related challenges (n = 44), affecting 38 participants, included nonresponders (n = 20), decedents (n = 1), and previously known results (n = 23). These results should be helpful to investigators preparing for return of results in large-scale genomic sequencing projects. Nature Publishing Group UK 2020-05-04 /pmc/articles/PMC7198538/ /pubmed/32377377 http://dx.doi.org/10.1038/s41525-020-0127-2 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Kochan, David C.
Winkler, Erin
Lindor, Noralane
Shaibi, Gabriel Q.
Olson, Janet
Caraballo, Pedro J.
Freimuth, Robert
Pacyna, Joel E.
Breitkopf, Carmen Radecki
Sharp, Richard R.
Kullo, Iftikhar J.
Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title_full Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title_fullStr Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title_full_unstemmed Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title_short Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
title_sort challenges in returning results in a genomic medicine implementation study: the return of actionable variants empirical (rave) study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198538/
https://www.ncbi.nlm.nih.gov/pubmed/32377377
http://dx.doi.org/10.1038/s41525-020-0127-2
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