Journal article

Lost in translation: Returning germline genetic results in genome-scale cancer research

AL Johns, SH McKay, JL Humphris, M Pinese, LA Chantrill, RS Mead, K Tucker, L Andrews, A Goodwin, C Leonard, HA High, K Nones, N Waddell, AM Patch, ND Merrett, N Pavlakis, KS Kassahn, JS Samra, DK Miller, DK Chang Show all

Genome Medicine | BMC | Published : 2017

Abstract

Background: The return of research results (RoR) remains a complex and well-debated issue. Despite the debate, actual data related to the experience of giving individual results back, and the impact these results may have on clinical care and health outcomes, is sorely lacking. Through the work of the Australian Pancreatic Cancer Genome Initiative (APGI) we: (1) delineate the pathway back to the patient where actionable research data were identified; and (2) report the clinical utilisation of individual results returned. Using this experience, we discuss barriers and opportunities associated with a comprehensive process of RoR in large-scale genomic research that may be useful for others dev..

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University of Melbourne Researchers

Grants

Awarded by Medical Research Council


Funding Acknowledgements

National Health and Medical Research Council of Australia (NHMRC; 631701, 535903, 427601, 1112113) Queensland Government (NIRAP) University of Queensland Institute for Molecular Bioscience Australian Government: Department of Innovation, Industry, Science and Research (DIISR) Cancer Council NSW: (SRP06-01, SRP11-01. ICGC) Cancer Institute NSW: (10/ECF/2-26; 06/ECF/1-24; 09/CDF/2-40; 07/CDF/1-03; 10/CRF/1-01, 08/RSA/1-15, 07/CDF/1-28, 10/CDF/2-26,10/FRL/2-03, 06/RSA/1-05, 09/RIG/1-02, 10/TPG/1-04, 11/REG/1-10, 11/CDF/3-26,13ECF1-46, 13/CDF/1-01) Garvan Institute of Medical Research Avner Nahmani Pancreatic Cancer Foundation Jane Hemstritch in memory of Philip Hemstritch.