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Preparing for genomic medicine: a real world demonstration of health system change

Clara L. Gaff, Ingrid M. Winship, Susan M. Forrest, David P. Hansen, Julian Clark, Paul M. Waring, Mike South, Andrew H. Sinclair
2017 npj Genomic Medicine  
The approach and lessons learned may assist others in determining how best to integrate genomics into their healthcare system.  ...  Organisations and governments seeking to implement genomics into clinical practice face numerous challenges across multiple, diverse aspects of the health care system.  ...  Here we present our experience designing and conducting this collaborative project and share our lessons learned in the hope it will assist others to navigate their own path into the era of genomic medicine  ... 
doi:10.1038/s41525-017-0017-4 pmid:29263830 pmcid:PMC5677913 fatcat:aitr2h553rewjbbxxodrvwa5wu

Development and evaluation of software for applied clinical genomics

Casper Shyr
2016
This doctoral thesis focuses on a comparative design analysis of clinical decision support systems and prototypes interacting with patient genomes under various sectors of healthcare to ultimately improve  ...  Through a combination of usability methodologies across multiple distinct clinical user groups, the thesis highlights reoccurring domain-specific challenges and introduces ways to overcome the roadblo  ...  Therefore, we will focus our discussion on the domain-specific lessons learned from the study, providing specific recommendations that could inform the design of future interfaces for clinical exome analysis  ... 
doi:10.14288/1.0300436 fatcat:tfyub3u3pzbq3ejxzprgguygr4

Abstracts From the 40th Human Genetics Society of Australasia Annual Scientific Meeting Hobart, Tasmania: August 6–9, 2016

2016 Twin Research and Human Genetics  
AGHA comprises 47 partner organisations including the diagnostic pathology and clinical genetics services of all Australian States and Territories, along with the major research and academic institutions  ...  By approaching clinical genomics at a national rather than state-based level, we increase our critical mass and offer a single point of contact for government and for national and international consortia  ...  EXPLORING THE EXPERIENCES OF PARENTS WHO Andre Minoche 1 , Greg Peters 2 , Velimir Gayevskiy 1 , Mike Field 3 , Claire Horvat 4 , Andreas Zankl 1,2,5 , Diane Fatkin 4 , Tony Roscioli 1,6,7 , Michael Buckley  ... 
doi:10.1017/thg.2016.69 pmid:27633126 fatcat:nhmbfuf7qrdp5i4jybye44mehi

Communicating Personal Genomic Information to Non-experts: A New Frontier for Human-Computer Interaction

Orit Shaer, Oded Nov, Lauren Westendorf, Madeleine Ball
2017 Foundations and Trends® in Human–Computer Interaction  
This work was partially funded by Grants IIS-1017693 and IIS-1422706 from the National Science Foundation (NSF), Division of Information and Intelligent Systems (IIS).  ...  Acknowledgements 51 Acknowledgements We would like to thank Christina Pollalis and Clarissa Verish for their contribution.  ...  Future research should also draw upon lessons from a rich body of research on using genetic data to empower patients in the context of clinical care [e.g., Gilbar, 2007 , Rosas-Blum et al., 2007 , Berg  ... 
doi:10.1561/1100000067 fatcat:x7rambfjfrgkrpatsputxvmy44

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases

Gloria C. Ferreira, Jenna Oberstaller, Renée Fonseca, Thomas E. Keller, Swamy Rakesh Adapa, Justin Gibbons, Chengqi Wang, Xiaoming Liu, Chang Li, Minh Pham, Guy W. Dayhoff II, Linh M. Duong (+12 others)
2019 F1000Research  
Basic and clinical scientific research at the University of South Florida (USF) have intersected to support a multi-faceted approach around a common focus on rare iron-related diseases.  ...  Within two and a half days, "Iron Hack" participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance.  ...  Acknowledgements We would like to thank John Adams (University of South  ... 
doi:10.12688/f1000research.19140.1 pmid:31824661 pmcid:PMC6894363 fatcat:ymvmmeowurbp5evedblsmqvhty

Informatics for Health 2017: Advancing both science and practice

Philip J. Scott, Ronald Cornet, Colin McCowan, Niels Peek, Paolo Fraccaro, Nophar Geifman, Wouter T. Gude, William Hulme, Glen P. Martin, Richard Williams
2017 Journal of Innovation in Health Informatics  
of the possible, seen in the breadth and depth of our contributions.  ...  We call upon policy makers, research funders and programme leaders to learn from this joined-up approach.  ...  Methods entailed: a) usability inspection studies conducted with experienced software evaluators employing heuristic evaluation and cognitive walkthrough, b) laboratory-based mixed method usability tests  ... 
doi:10.14236/jhi.v24i1.939 pmid:28665785 fatcat:fj7cg7o6h5c3hnd5x7b2cfo2te

The 2017 ISBER Annual Meeting & Exhibits: "Due North: Aligning Biobanking Practice with Evolving Evidence and Innovation"

Alison Parry-Jones, Monique Albert
2017 Biopreservation and Biobanking  
FluidX TM IntelliXcap TM The fastest, next generation, 96 format, capper/decapper BioCision TM Superior cryopreservation and cold chain consumables BioStore TM III V A more efficient -80ºC automated storage  ...  Janet Olson will present a history of the Mayo Clinic Biobank, summarize key uses of the collection to date as well as lessons learned as to how to best facilitate use of the biobank over time as current  ...  ., return of clinically-actionable results). Learning objective: Identify a number of advantages and disadvantages of self-consent for research and clinical biobanking.  ... 
doi:10.1089/bio.2017.29024.apj pmid:28574775 fatcat:w36yybh2h5htfesw43xcypowoe

Proceedings from the 9th annual conference on the science of dissemination and implementation

David Chambers, Lisa Simpson, Gila Neta, Ulrica von Thiele Schwarz, Antoinette Percy-Laurry, Gregory A. Aarons, Gila Neta, Ross Brownson, Amanda Vogel, Shannon Wiltsey Stirman, Kenneth Sherr, Rachel Sturke (+633 others)
2017 Implementation Science  
and lessons learned from other industries to maximize potential of new practices to be scaled-up.  ...  Last year's tracks-Behavioral Health, Big Data and Technology for Dissemination and Implementation Research, Clinical Care Settings, Global Dissemination and Implementation, Promoting Health Equity and  ...  and lessons learned from other industries to maximize potential of new practices to be scaled-up.  ... 
doi:10.1186/s13012-017-0575-y fatcat:qlai6rpdhffivnljy72jc3a62m

Factors influencing organizational adoption and implementation of clinical genetic services

Alison B. Hamilton, Sabine Oishi, Elizabeth M. Yano, Cynthia E. Gammage, Nell J. Marshall, Maren T. Scheuner
2013 Genetics in Medicine  
norms of low cost and high clinical impact; or applicable to patient populations or norms of clinical care.  ...  Conclusion: Adoption and implementation of genetic services will require a multilevel effort that includes education of providers and administrators, opportunities for observing the benefits of genetic  ...  ACKNOWLEDGMENTS DISCLOSURE The authors declare no conflict of interest. REfERENCES  ... 
doi:10.1038/gim.2013.101 pmid:23949572 fatcat:x63lnysoejbltpvg6w2fkrod6m

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations

2019 European Journal of Human Genetics  
User experiences related to trust and usefulness of the Chatbot is central to the study, and will be evaluated through usability testing and focus group interviews.  ...  (top-10-accuracy rate of 99 % for disease-causing gene).  ...  Analysis of parents-child trio exomes and effect of the variant on protein structure and stability were performed.  ... 
doi:10.1038/s41431-019-0492-4 fatcat:wuudroxpgfe6vfpv2ddzyr7vhi

Abstracts From the 26th Annual Health Care Systems Research Network Conference, April 8–10, 2020

2020 Journal of Patient-Centered Research and Reviews  
Supplement www.aurora.org/jpcrr 65 Background: Clinical inertia, defined as the failure to modify therapy when clinically indicated, is a key contributing factor for why patients do not meet guideline-recommended  ...  The outcomes of the study included EF value and EF quality, which refers to domains from where EF was extracted.  ...  Preliminary recruitment information and lessons learned will be discussed.  ... 
doi:10.17294/2330-0698.1762 fatcat:2kezambzxvcxhnkeofw55isgiu

2021 Western Medical Research Conference

2020 Journal of Investigative Medicine  
Purpose of Study To refine the electroclinical phenotype of epilepsy in NGLY1 deficiency via prospective clinical and electroencephalogram (EEG) findings in an international cohort.  ...  Conclusions We highlight a significant risk of epilepsy in NGLY1 deficiency and detail the clinical and electrographic features identified in our international cohort.  ...  The goal of this study was to apply a principled, modelbased analysis of categorical learning to identify learning types during IBT.  ... 
doi:10.1136/jim-2021-wrmc fatcat:ec52pfr2efgafb665m2czugyqy

2019-July_CFDE_AssessmentReport.pdf

C. Titus Brown, Amanda Charbonneau, Owen White
2019 Figshare  
Acknowledgements We are grateful to Brian Osbourne and Brian O'Connor for their assistance in preparation of this document.  ...  Many members of the CFDE tech team participated in data gathering; in particular we would like to cite Lee Liming for his review of the report and assistance with data collection, as well as Theresa Hodges  ...  At the top of the page are a series of facets including some frequent quick filters (including data type and diagnosis categories), along with study, demographic, clinical, and biospecimen filters.  ... 
doi:10.6084/m9.figshare.9588374 fatcat:o6kr3ku2eff2tlnv6uep7eotbm

Abstracts From the 21st Annual HMO Research Network Conference, March 11–13, 2015, Long Beach, California

2015 Journal of Patient-Centered Research and Reviews  
Results: As of September 2014, 6,194 eligible women were identified and randomized. We will highlight the study design and lessons learned from implementing a pragmatic trial.  ...  Recommended Citation Background/Aims: Prostate cancer is the most common and costly cancer among U.S. men and offers a portfolio of case studies and clinical problems.  ...  The evolution of the Adult Changes in Thought (ACT) study, a long-standing partnership between Group Health and University of Washington, demonstrates the value and lessons learned from a living laboratory  ... 
doi:10.17294/2330-0698.1201 fatcat:lxbvzpg3vvbhfp7lax4celo62u

Screening Pathways through China, the Asia Pacific Region, the World

Wiley, Webster, Loeber, on behalf of ISNS two thousand nineteen, Local Organising Committee
2019 International Journal of Neonatal Screening  
The International Society for Neonatal Screening (ISNS) has met regularly at both international meetings and those of the various chapters[...]  ...  The lessons learned can inform emerging pilot projects and scalability in countries throughout Asia and internationally.  ...  Pandora's Jar in a Crystal Reviews exploring the possibilities of NGS-in-NBS analysis and pilot studies (both targeted and whole-exome or -genome approached) presented possibilities and challenges of genomic  ... 
doi:10.3390/ijns5030026 pmid:33072985 pmcid:PMC7510188 fatcat:3y6yescmijgatfyypjxzpeosma
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