Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/97338
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Type: Journal article
Title: Returning individual research results for genome sequences of pancreatic cancer
Author: Johns, A.
Miller, D.
Simpson, S.
Gill, A.
Kassahn, K.
Humphris, J.
Samra, J.
Tucker, K.
Andrews, L.
Chang, D.
Waddell, N.
Pajic, M.
Pearson, J.
Grimmond, S.
Biankin, A.
Zeps, N.
Martyn-Smith, M.
Tang, H.
Papangelis, V.
Beilin, M.
Citation: Genome Medicine: medicine in the post-genomic era, 2014; 6(5):42-1-42-8
Publisher: BioMed Central
Issue Date: 2014
ISSN: 1756-994X
1756-994X
Statement of
Responsibility: 
Amber L Johns, David K Miller, Skye H Simpson, Anthony J Gill, Karin S Kassahn, Jeremy L Humphris, Jaswinder S Samra, Katherine Tucker, Lesley Andrews, David K Chang, Nicola Waddell, Marina Pajic, Australian Pancreatic Cancer Genome Initiative, John V Pearson, Sean M Grimmond, Andrew V Biankin, and Nikolajs Zeps
Abstract: BACKGROUND: Disclosure of individual results to participants in genomic research is a complex and contentious issue. There are many existing commentaries and opinion pieces on the topic, but little empirical data concerning actual cases describing how individual results have been returned. Thus, the real life risks and benefits of disclosing individual research results to participants are rarely if ever presented as part of this debate. METHODS: The Australian Pancreatic Cancer Genome Initiative (APGI) is an Australian contribution to the International Cancer Genome Consortium (ICGC), that involves prospective sequencing of tumor and normal genomes of study participants with pancreatic cancer in Australia. We present three examples that illustrate different facets of how research results may arise, and how they may be returned to individuals within an ethically defensible and clinically practical framework. This framework includes the necessary elements identified by others including consent, determination of the significance of results and which to return, delineation of the responsibility for communication and the clinical pathway for managing the consequences of returning results. RESULTS: Of 285 recruited patients, we returned results to a total of 25 with no adverse events to date. These included four that were classified as medically actionable, nine as clinically significant and eight that were returned at the request of the treating clinician. Case studies presented depict instances where research results impacted on cancer susceptibility, current treatment and diagnosis, and illustrate key practical challenges of developing an effective framework. CONCLUSIONS: We suggest that return of individual results is both feasible and ethically defensible but only within the context of a robust framework that involves a close relationship between researchers and clinicians.
Rights: © 2014 Johns et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
RMID: 0030035701
DOI: 10.1186/gm558
Appears in Collections:Genetics publications

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