Lost in translation: returning germline genetic results in genome-scale cancer research
| Title: | Lost in translation: returning germline genetic results in genome-scale cancer research |
|---|---|
| Authors: | Johns AL; McKay SH; Humphris JL; Pinese M; Chantrill LA; Mead RS; Tucker K; Andrews L; Goodwin A; Leonard C; High HA; Nones K; Patch AM; Merrett ND; Pavlakis N; Kassahn KS; Samra JS; Miller DK; Chang DK; Pajic M; Australian Pancreatic Cancer Genome Initiative; Aldo Scarpa; Rita T. Lawlor; Stefania Beghelli; Vincenzo Corbo; Maria Scardoni; Claudio Bassi; Pearson JV; Grimmond SM; Waddell N; Zeps N; Gill AJ; Biankin AV |
| Contributors: | Al, John; Sh, Mckay; Jl, Humphri; M, Pinese; La, Chantrill; Rs, Mead; K, Tucker; L, Andrew; A, Goodwin; C, Leonard; Ha, High; K, None; Am, Patch; Nd, Merrett; N, Pavlaki; Ks, Kassahn; Js, Samra; Dk, Miller; Dk, Chang; M, Pajic; Pancreatic Cancer Genome Initiative, Australian; Scarpa, Aldo; Lawlor, Rita T.; Beghelli, Stefania; Corbo, Vincenzo; Scardoni, Maria; Bassi, Claudio; Jv, Pearson; Sm, Grimmond; N, Waddell; N, Zep; Aj, Gill; Av, Biankin |
| Publication Year: | 2017 |
| Collection: | Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| Subject Terms: | Genomic data; Research ethic; Return of result; Whole-genome sequencing; Adult; Aged; 80 and over; Australia; Computer Simulation; DNA Mutational Analysi; Genomic; Human; Middle Aged; Pancreatic Neoplasm; Genetic Predisposition to Disease; Genome; Germ-Line Mutation |
| Description: | 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 developing their own policies. |
| Document Type: | article in journal/newspaper |
| File Description: | ELETTRONICO |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/28454591; info:eu-repo/semantics/altIdentifier/wos/WOS:000400326000001; volume:9; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:GENOME MEDICINE; https://hdl.handle.net/11562/974890 |
| DOI: | 10.1186/s13073-017-0430-4 |
| Availability: | https://hdl.handle.net/11562/974890; https://doi.org/10.1186/s13073-017-0430-4 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by-nc-sa/3.0/it/ |
| Accession Number: | edsbas.58212FA4 |
| Database: | BASE |