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Literature DB >> 30609404

Integrating Genomics into Healthcare: A Global Responsibility.

Zornitza Stark¹, Lena Dolman², Teri A Manolio³, Brad Ozenberger⁴, Sue L Hill⁵, Mark J Caulfied⁶, Yves Levy⁷, David Glazer⁸, Julia Wilson⁹, Mark Lawler¹⁰, Tiffany Boughtwood¹¹, Jeffrey Braithwaite¹², Peter Goodhand², Ewan Birney¹³, Kathryn N North¹⁴.

Abstract

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

Mesh：

Year: 2019 PMID： 30609404 PMCID： PMC6323624 DOI： 10.1016/j.ajhg.2018.11.014

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

55 in total

1. Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.

Authors: J Scott Roberts; Michele C Gornick; Deanna Alexis Carere; Wendy R Uhlmann; Mack T Ruffin; Robert C Green
Journal: Public Health Genomics Date: 2017-01-10 Impact factor: 2.000

2. ClinVar at five years: Delivering on the promise.

Authors: Melissa J Landrum; Brandi L Kattman
Journal: Hum Mutat Date: 2018-11 Impact factor: 4.878

3. The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors: Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal: Hum Mutat Date: 2015-10 Impact factor: 4.878

4. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Authors: Steven M Harrison; Jill S Dolinksy; Wenjie Chen; Christin D Collins; Soma Das; Joshua L Deignan; Kathryn B Garber; John Garcia; Olga Jarinova; Amy E Knight Johnson; Juha W Koskenvuo; Hane Lee; Rong Mao; Rebecca Mar-Heyming; Andrew S McFaddin; Krista Moyer; Narasimhan Nagan; Stefan Rentas; Avni B Santani; Eija H Seppälä; Brian H Shirts; Timothy Tidwell; Scott Topper; Lisa M Vincent; Kathy Vinette; Heidi L Rehm
Journal: Hum Mutat Date: 2018-11 Impact factor: 4.878

5. 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

6. The BabySeq project: implementing genomic sequencing in newborns.

Authors: Ingrid A Holm; Pankaj B Agrawal; Ozge Ceyhan-Birsoy; Kurt D Christensen; Shawn Fayer; Leslie A Frankel; Casie A Genetti; Joel B Krier; Rebecca C LaMay; Harvey L Levy; Amy L McGuire; Richard B Parad; Peter J Park; Stacey Pereira; Heidi L Rehm; Talia S Schwartz; Susan E Waisbren; Timothy W Yu; Robert C Green; Alan H Beggs
Journal: BMC Pediatr Date: 2018-07-09 Impact factor: 2.125

7. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Authors: Kathryn M Porter; Tia L Kauffman; Barbara A Koenig; Katie L Lewis; Heidi L Rehm; Carolyn Sue Richards; Natasha T Strande; Holly K Tabor; Susan M Wolf; Yaping Yang; Laura M Amendola; Danielle R Azzariti; Jonathan S Berg; Katie Bergstrom; Leslie G Biesecker; Sawona Biswas; Kevin M Bowling; Wendy K Chung; Ellen W Clayton; Laura K Conlin; Gregory M Cooper; Matthew C Dulik; Levi A Garraway; Arezou A Ghazani; Robert C Green; Susan M Hiatt; Seema M Jamal; Gail P Jarvik; Katrina A B Goddard; Benjamin S Wilfond
Journal: Mol Genet Genomic Med Date: 2018-08-21 Impact factor: 2.183

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. Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.

Authors: Lori A Orlando; Nina R Sperber; Corrine Voils; Marshall Nichols; Rachel A Myers; R Ryanne Wu; Tejinder Rakhra-Burris; Kenneth D Levy; Mia Levy; Toni I Pollin; Yue Guan; Carol R Horowitz; Michelle Ramos; Stephen E Kimmel; Caitrin W McDonough; Ebony B Madden; Laura J Damschroder
Journal: Genet Med Date: 2017-09-14 Impact factor: 8.822

Review 10. H3Africa: current perspectives.

Authors: Nicola Mulder; Alash'le Abimiku; Sally N Adebamowo; Jantina de Vries; Alice Matimba; Paul Olowoyo; Michele Ramsay; Michelle Skelton; Dan J Stein
Journal: Pharmgenomics Pers Med Date: 2018-04-10

90 in total

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

Authors: Zornitza Stark; Tiffany Boughtwood; Peta Phillips; John Christodoulou; David P Hansen; Jeffrey Braithwaite; Ainsley J Newson; Clara L Gaff; Andrew H Sinclair; Kathryn N North
Journal: Am J Hum Genet Date: 2019-07-03 Impact factor: 11.025

2. A Global Collaborative to Advance Genomic Medicine.

Authors: Geoffrey S Ginsburg
Journal: Am J Hum Genet Date: 2019-03-07 Impact factor: 11.025

3. 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

Review 4. Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.

Authors: Lindsay Fernández-Rhodes; Kristin L Young; Adam G Lilly; Laura M Raffield; Heather M Highland; Genevieve L Wojcik; Cary Agler; Shelly-Ann M Love; Samson Okello; Lauren E Petty; Mariaelisa Graff; Jennifer E Below; Kimon Divaris; Kari E North
Journal: Circ Res Date: 2020-06-04 Impact factor: 17.367

5. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Authors: Stephen F Kingsmore; Julie A Cakici; Michelle M Clark; Mary Gaughran; Michele Feddock; Sergey Batalov; Matthew N Bainbridge; Jeanne Carroll; Sara A Caylor; Christina Clarke; Yan Ding; Katarzyna Ellsworth; Lauge Farnaes; Amber Hildreth; Charlotte Hobbs; Kiely James; Cyrielle I Kint; Jerica Lenberg; Shareef Nahas; Lance Prince; Iris Reyes; Lisa Salz; Erica Sanford; Peter Schols; Nathaly Sweeney; Mari Tokita; Narayanan Veeraraghavan; Kelly Watkins; Kristen Wigby; Terence Wong; Shimul Chowdhury; Meredith S Wright; David Dimmock
Journal: Am J Hum Genet Date: 2019-09-26 Impact factor: 11.025