Literature DB >> 31271757

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Zornitza Stark1, Tiffany Boughtwood2, Peta Phillips2, John Christodoulou1, David P Hansen3, Jeffrey Braithwaite4, Ainsley J Newson5, Clara L Gaff6, Andrew H Sinclair1, Kathryn N North7.   

Abstract

Australian Genomics is a national collaborative research partnership of more than 80 organizations piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles. The aim of Australian Genomics is to assess the application of genomic testing in healthcare at the translational interface between research and clinical delivery, with an emphasis on robust evaluation of outcomes. It encompasses two bodies of work: a research program prospectively providing genomic testing through exemplar clinical projects in rare diseases, cancers, and reproductive carrier screening and interdependent programs for advancing the diagnostic, health informatics, regulatory, ethical, policy, and workforce infrastructure necessary for the integration of genomics into the Australian health system.
Copyright © 2019. Published by Elsevier Inc.

Entities:  

Year:  2019        PMID： 31271757      PMCID： PMC6612707          DOI： 10.1016/j.ajhg.2019.06.003

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  19 in total

1.  Effectiveness-implementation hybrid designs: combining elements of clinical effectiveness and implementation research to enhance public health impact.

Authors:  Geoffrey M Curran; Mark Bauer; Brian Mittman; Jeffrey M Pyne; Cheryl Stetler
Journal:  Med Care       Date:  2012-03       Impact factor: 2.983

2.  SNOMED-CT: The advanced terminology and coding system for eHealth.

Authors:  Kevin Donnelly
Journal:  Stud Health Technol Inform       Date:  2006

3.  Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support.

Authors:  Paul A Harris; Robert Taylor; Robert Thielke; Jonathon Payne; Nathaniel Gonzalez; Jose G Conde
Journal:  J Biomed Inform       Date:  2008-09-30       Impact factor: 6.317

4.  Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Authors:  Tiong Yang Tan; Oliver James Dillon; Zornitza Stark; Deborah Schofield; Khurshid Alam; Rupendra Shrestha; Belinda Chong; Dean Phelan; Gemma R Brett; Emma Creed; Anna Jarmolowicz; Patrick Yap; Maie Walsh; Lilian Downie; David J Amor; Ravi Savarirayan; George McGillivray; Alison Yeung; Heidi Peters; Susan J Robertson; Aaron J Robinson; Ivan Macciocca; Simon Sadedin; Katrina Bell; Alicia Oshlack; Peter Georgeson; Natalie Thorne; Clara Gaff; Susan M White
Journal:  JAMA Pediatr       Date:  2017-09-01       Impact factor: 16.193

5.  GENOMICS. A federated ecosystem for sharing genomic, clinical data.

Authors: 
Journal:  Science       Date:  2016-06-10       Impact factor: 47.728

6.  The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Authors:  Peter N Robinson; Sebastian Köhler; Sebastian Bauer; Dominik Seelow; Denise Horn; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

7.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Authors:  Zornitza Stark; Deborah Schofield; Khurshid Alam; William Wilson; Nessie Mupfeki; Ivan Macciocca; Rupendra Shrestha; Susan M White; Clara Gaff
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

8.  A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Authors:  Zornitza Stark; Tiong Y Tan; Belinda Chong; Gemma R Brett; Patrick Yap; Maie Walsh; Alison Yeung; Heidi Peters; Dylan Mordaunt; Shannon Cowie; David J Amor; Ravi Savarirayan; George McGillivray; Lilian Downie; Paul G Ekert; Christiane Theda; Paul A James; Joy Yaplito-Lee; Monique M Ryan; Richard J Leventer; Emma Creed; Ivan Macciocca; Katrina M Bell; Alicia Oshlack; Simon Sadedin; Peter Georgeson; Charlotte Anderson; Natalie Thorne; Clara Gaff; Susan M White
Journal:  Genet Med       Date:  2016-03-03       Impact factor: 8.822

9.  Framework for responsible sharing of genomic and health-related data.

Authors:  Bartha Maria Knoppers
Journal:  Hugo J       Date:  2014-10-17

10.  Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.

Authors:  Susan M Wolf; Laura M Amendola; Jonathan S Berg; Wendy K Chung; Ellen Wright Clayton; Robert C Green; Julie Harris-Wai; Gail E Henderson; Gail P Jarvik; Barbara A Koenig; Lisa Soleymani Lehmann; Amy L McGuire; Pearl O'Rourke; Carol Somkin; Benjamin S Wilfond; Wylie Burke
Journal:  Genet Med       Date:  2017-08-31       Impact factor: 8.822
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  27 in total

1.  Children's rare disease cohorts: an integrative research and clinical genomics initiative.

Authors:  Shira Rockowitz; Nicholas LeCompte; Mary Carmack; Andrew Quitadamo; Lily Wang; Meredith Park; Devon Knight; Emma Sexton; Lacey Smith; Beth Sheidley; Michael Field; Ingrid A Holm; Catherine A Brownstein; Pankaj B Agrawal; Susan Kornetsky; Annapurna Poduri; Scott B Snapper; Alan H Beggs; Timothy W Yu; David A Williams; Piotr Sliz
Journal:  NPJ Genom Med       Date:  2020-07-06       Impact factor: 8.617

2.  Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.

Authors:  David C Kochan; Erin Winkler; Noralane Lindor; Gabriel Q Shaibi; Janet Olson; Pedro J Caraballo; Robert Freimuth; Joel E Pacyna; Carmen Radecki Breitkopf; Richard R Sharp; Iftikhar J Kullo
Journal:  NPJ Genom Med       Date:  2020-05-04       Impact factor: 8.617

3.  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:  Sebastian Lunke; Stefanie Eggers; Meredith Wilson; Chirag Patel; Christopher P Barnett; Jason Pinner; Sarah A Sandaradura; Michael F Buckley; Emma I Krzesinski; Michelle G de Silva; Gemma R Brett; Kirsten Boggs; David Mowat; Edwin P Kirk; Lesley C Adès; Lauren S Akesson; David J Amor; Samantha Ayres; Anne Baxendale; Sarah Borrie; Alessandra Bray; Natasha J Brown; Cheng Yee Chan; Belinda Chong; Corrina Cliffe; Martin B Delatycki; Matthew Edwards; George Elakis; Michael C Fahey; Andrew Fennell; Lindsay Fowles; Lyndon Gallacher; Megan Higgins; Katherine B Howell; Lauren Hunt; Matthew F Hunter; Kristi J Jones; Sarah King; Smitha Kumble; Sarah Lang; Maelle Le Moing; Alan Ma; Dean Phelan; Michael C J Quinn; Anna Richards; Christopher M Richmond; Jessica Riseley; Jonathan Rodgers; Rani Sachdev; Simon Sadedin; Luregn J Schlapbach; Janine Smith; Amanda Springer; Natalie B Tan; Tiong Y Tan; Suzanna L Temple; Christiane Theda; Anand Vasudevan; Susan M White; Alison Yeung; Ying Zhu; Melissa Martyn; Stephanie Best; Tony Roscioli; John Christodoulou; Zornitza Stark
Journal:  JAMA       Date:  2020-06-23       Impact factor: 56.272

4.  Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.

Authors:  Robin Z Hayeems; Christian R Marshall; Meredith K Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J Stavropoulos; Viji Venkataramanan; Kate Tsiplova; Sarah Sawyer; E Magda Price; Lynette Lau; Reem Khan; Whiwon Lee; Lijia Huang; Olga Jarinova; Wendy J Ungar; Roberto Mendoza-Londono; Martin J Somerville; Kym M Boycott
Journal:  CMAJ Open       Date:  2022-05-24

Review 5.  Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Authors:  Zornitza Stark; Rebecca E Foulger; Eleanor Williams; Bryony A Thompson; Chirag Patel; Sebastian Lunke; Catherine Snow; Ivone U S Leong; Arina Puzriakova; Louise C Daugherty; Sarah Leigh; Christopher Boustred; Olivia Niblock; Antonio Rueda-Martin; Oleg Gerasimenko; Kevin Savage; William Bellamy; Victor San Kho Lin; Roman Valls; Lavinia Gordon; Helen K Brittain; Ellen R A Thomas; Ana Lisa Taylor Tavares; Meriel McEntagart; Susan M White; Tiong Y Tan; Alison Yeung; Lilian Downie; Ivan Macciocca; Elena Savva; Crystle Lee; Ain Roesley; Paul De Fazio; Jane Deller; Zandra C Deans; Sue L Hill; Mark J Caulfield; Kathryn N North; Richard H Scott; Augusto Rendon; Oliver Hofmann; Ellen M McDonagh
Journal:  Am J Hum Genet       Date:  2021-07-29       Impact factor: 11.025

6.  Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) project.

Authors:  Louise Keogh; Paul Lacaze; Jane Tiller; Aideen McInerney-Leo; Andrea Belcher; Tiffany Boughtwood; Penny Gleeson; Martin Delatycki; Kristine Barlow-Stewart; Ingrid Winship; Margaret Otlowski
Journal:  BMC Med Ethics       Date:  2021-05-21       Impact factor: 2.652

Review 7.  Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Authors:  Erin Crellin; Belinda McClaren; Amy Nisselle; Stephanie Best; Clara Gaff; Sylvia Metcalfe
Journal:  Front Genet       Date:  2019-09-11       Impact factor: 4.599

8.  Advancing precision public health using human genomics: examples from the field and future research opportunities.

Authors:  Megan C Roberts; Alison E Fohner; Latrice Landry; Dana Lee Olstad; Amelia K Smit; Erin Turbitt; Caitlin G Allen
Journal:  Genome Med       Date:  2021-06-01       Impact factor: 11.117

9.  The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis.

Authors:  Janet C Long; Stephanie Best; Sarah Hatem; Tahlia Theodorou; Toni Catton; Sean Murray; Jeffrey Braithwaite; John Christodoulou
Journal:  Orphanet J Rare Dis       Date:  2021-07-13       Impact factor: 4.123

10.  Children's rare disease cohorts: an integrative research and clinical genomics initiative.

Authors:  Shira Rockowitz; Nicholas LeCompte; Mary Carmack; Andrew Quitadamo; Lily Wang; Meredith Park; Devon Knight; Emma Sexton; Lacey Smith; Beth Sheidley; Michael Field; Ingrid A Holm; Catherine A Brownstein; Pankaj B Agrawal; Susan Kornetsky; Annapurna Poduri; Scott B Snapper; Alan H Beggs; Timothy W Yu; David A Williams; Piotr Sliz
Journal:  NPJ Genom Med       Date:  2020-07-06       Impact factor: 8.617
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