Returning individual research results for genome sequences of pancreatic cancer

Johns, Amber L., Miller, David K., Simpson, Skye H., Gill, Anthony J., Kassahn, Karin S., Humphris, Jeremy L., Samra, Jaswinder S., Tucker, Katherine, Andrews, Lesley, Chang, David K., Waddell, Nicola, Pajic, Marina, Australian Pancreatic Cancer Genome Initiative, Pearson, John V., Grimmond, Sean M., Biankin, Andrew V. and Zeps, Nikolajs (2014) Returning individual research results for genome sequences of pancreatic cancer. Genome Medicine, 6 5: 1-8. doi:10.1186/gm558

Author Johns, Amber L.
Miller, David K.
Simpson, Skye H.
Gill, Anthony J.
Kassahn, Karin S.
Humphris, Jeremy L.
Samra, Jaswinder S.
Tucker, Katherine
Andrews, Lesley
Chang, David K.
Waddell, Nicola
Pajic, Marina
Australian Pancreatic Cancer Genome Initiative
Pearson, John V.
Grimmond, Sean M.
Biankin, Andrew V.
Zeps, Nikolajs
Total Author Count Override 17
Title Returning individual research results for genome sequences of pancreatic cancer
Journal name Genome Medicine   Check publisher's open access policy
ISSN 1756-994X
Publication date 2014-05-29
Sub-type Article (original research)
DOI 10.1186/gm558
Open Access Status DOI
Volume 6
Issue 5
Start page 1
End page 8
Total pages 8
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2015
Language eng
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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
Institute for Molecular Bioscience - Publications
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