Abstract 1832: Large variations in clinical and ethical aspects of genomic sequencing initiatives: A Global Alliance for Genomics and Health (GA4GH) survey
Authors: Lewin Jeremy , Vis Daniel J. , Lawler Mark , Liao Rachel , Mao Mao , Teh Bin Tean , Sellers William , Ward Robyn , Camargo Anamaria Aranha , Andre Fabrice , Schilsky Richard , Lacombe Denis , Shibata Tatsuhiro , Fox Stephen , Le Tourneau Christophe , Dalton William S. , Knoppers Bartha Maria , Sawyers Charles , Voest Emile E. , Siu Lillian L. 
Published: July 2016

Abstract
Although next generation sequencing (NGS) has expanded our understanding of disease prognostication and cancer treatment, there is heterogeneity regarding its implementation. GA4GH is a not-for-profit organization that promotes and harmonizes responsible and effective data sharing, as unconnected data silos unacceptably stall the advancement of precision medicine. The GA4GH Cancer Task Team conducted a survey of international cancer sequencing activities to evaluate variability in these initiatives and report our findings on clinical/ethical aspects.
A total of 108 sequencing initiatives were approached via a web-based survey, of which 59 responded (55%) (Characteristics: Table 1). Most initiatives (61%) were North American or European based. Genomic-based drug matching occurred in 39 initiatives (66%): unplanned opportunistic matching to existent trials e.g. phase I (n = 29), specifically designed genomics driven trials (n = 10). In matching initiatives, outcome data was collected via RECIST in 24 (62%), time on treatment in 23 (59%), and clinical assessment in 10 (26%). Toxicity data was collected in all clinical trials but in few genomic sequencing programs.
Specific or implied informed consent was identified in 34 (58%) and 7 (14%) initiatives respectively and 36 (61%) allowed re-contacting of patients. However, only 31 (53%) had a protocol for communicating genetic results and 23 (39%) had a policy to handle incidental germline mutations. In total, 63% of initiatives are currently sharing data with an additional 10% partially sharing or planning to share.
In conclusion, there is currently no uniform approach for collecting data for precision medicine application. GA4GH is actively leading harmonization efforts (e.g. standardized outcome data, toxicity data collection, policies for returning genetic results and strategies for data sharing) to maximize the value of the increasingly complex datasets generated from NGS. Table 1N (%)Number of initiatives59Regional LocationNorth America20 (34)Europe16 (27)Asia7 (12)Australia3 (5)South America3 (5)Intercontinental10 (17)Regional ScopeInstitutional (local)15 (25)Multi-institutional (regional) / National28 (48)European Union4 (7)International10 (17)Unknown2 (3)Patient Samples per Year1-50022 (37)501-500022 (37)&gt;50007 (12)Unknown8 (14)Purpose of testDiagnostic9 (15)Research22 (37)Diagnostic /Research20 (34)Unknown8 (14)
Citation Format: Jeremy Lewin, Daniel J. Vis, Mark Lawler, Rachel Liao, Mao Mao, Bin Tean Teh, William Sellers, Robyn Ward, Anamaria Aranha Camargo, Fabrice Andre, Richard Schilsky, Denis Lacombe, Tatsuhiro Shibata, Stephen Fox, Christophe Le Tourneau, William S. Dalton, Bartha Maria Knoppers, Charles Sawyers, Emile E. Voest, Lillian L. Siu. Large variations in clinical and ethical aspects of genomic sequencing initiatives: A Global Alliance for Genomics and Health (GA4GH) survey. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1832.