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Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, NIHR BioResource for the 100,000 Genomes Project, William J. Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens (+51 others)
2020 Nature  
Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome.  ...  Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1.  ...  The enrolment was coordinated for one by the NIHR BioResource and for the other by Genomics England Limited (GEL), a wholly owned company of the Department of Health in the UK.  ... 
doi:10.1038/s41586-020-2434-2 pmid:32581362 pmcid:PMC7610553 fatcat:vf54nxmq2vh6bmchrymyhwnsw4

Improving diagnostics of rare genetic diseases with NGS approaches

Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin
2021 Journal of Community Genetics  
Systematic implementation of NGS in health systems can significantly improve the access of patients with rare diseases to diagnosis and reduce the dependence of national health systems for cross-border  ...  AbstractAccording to a rough estimate, one in fifteen people worldwide is affected by a rare disease.  ...  NGS can significantly improve the access of patients with rare diseases to diagnosis and reduce the dependence of national health systems for cross-border collaboration.  ... 
doi:10.1007/s12687-020-00500-5 pmid:33452619 fatcat:niwljohi6rdq3jj2rinbafdbpa

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

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
2019 American Journal of Human Genetics  
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  ...  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  ...  Acknowledgments The Australian Genomics Health Alliance  ... 
doi:10.1016/j.ajhg.2019.06.003 pmid:31271757 pmcid:PMC6612707 fatcat:waxlg76gjfc4zpv6o73ct57sge

Australian Genomics: Integrating genomic testing into healthcare

2020 Research Outreach  
In technical terms researchers and clinicians have a variety of tools at their disposal, including whole genome sequencing, whole exome sequencing, mitochondrial genome sequencing, and RNA sequencing.  ...  About 2 million Australians, or 8 per cent, live with a rare disease. A disease is considered rare if it affects fewer than five in 10,000 people.  ... 
doi:10.32907/ro-117-3033 fatcat:6ybjdypenrc5hfi57cbtjulcze

From the Data on Many, Precision Medicine for "One": The Case for Widespread Genomic Data Sharing

Serena Scollen, Angela Page, Julia Wilson
2017 Biomedicine Hub  
Within the decade, genome sequencing promises to become a routine part of healthcare around the globe.  ...  Data must be shared within an internationally federated, learning health system.  ...  Disclosure Statement The authors have no conflicts of interest to declare. The founding sponsors had no role in the writing of the manuscript and in the decision to publish.  ... 
doi:10.1159/000481682 pmid:31988941 pmcid:PMC6945905 fatcat:lfvh7rzijrghnive2u5gq7tvqy

Genomics: health-care future or broken promise?

2019 EClinicalMedicine  
The UK government recognises such value and, in December, 2012, launched the 100,000 Genomes Project, which, overseen by Genomics England, sequenced whole genomes from NHS patients with a focus on rare  ...  The NHS Genomic Medicine Service is the first national genomic health-care service in the world to provide whole genome sequencing for critically ill children with a suspected genetic condition, including  ... 
doi:10.1016/j.eclinm.2019.04.004 pmid:31143872 pmcid:PMC6510887 fatcat:ckzqtywwlnac7cs2q7oyggsjk4

Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark, Lena Dolman, Teri A. Manolio, Brad Ozenberger, Sue L. Hill, Mark J. Caulfied, Yves Levy, David Glazer, Julia Wilson, Mark Lawler, Tiffany Boughtwood, Jeffrey Braithwaite (+3 others)
2019 American Journal of Human Genetics  
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  ...  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  ...  Genomics England (GEL) was established in 2013 with »300M (US$415M) in government funding and a mandate to sequence 100,000 genomes from patients with over 100 rare diseases and seven common cancers, as  ... 
doi:10.1016/j.ajhg.2018.11.014 pmid:30609404 pmcid:PMC6323624 fatcat:peiabsi6xvhpvjrbya6h3nhydq

The contribution of genomics in the medicine of tomorrow, clinical applications and issues

Bruno Laviolle, Patrice Denèfle, François Gueyffier, Élodie Bégué, Pascal Bilbault, Hélène Espérou, Florence Gaillard-Bigot, Guillaume Grenet, Jean-François Guérin, Caroline Guillot, Pierre-Henry Longeray, Julia Morere (+5 others)
2019 The´rapie (Paris)  
In France, the France genomics plan 2025 was launched in 2015 with the goal of integrating genomic tests into clinical practice and developing a National genomics network including industrial partnerships  ...  Fifteen years after the completion of first human genome sequencing, the technique is almost a commodity but there is still little evidence of its usefulness as a diagnostic, prognostic or therapeutic  ...  For rare diseases, 23 subsidiaries of care were created with the second National rare diseases plan with rare disease reference centres, constituent centres and competence centres.  ... 
doi:10.1016/j.therap.2018.11.012 pmid:30638855 fatcat:dnlgttneojd7zahkliu6pzizxe

Availability and funding of clinical genomic sequencing globally

Kathryn A Phillips, Michael P Douglas, Sarah Wordsworth, James Buchanan, Deborah A Marshall
2021 BMJ Global Health  
We examined NGS availability across world regions and countries, with a particular focus on availability of three key NGS tests—Whole-Exome Sequencing or Whole-Genome Sequencing for diagnosis of suspected  ...  genetic diseases such as intellectual disability disorders or rare diseases, non-invasive prenatal testing for common genetic abnormalities in fetuses and tumor sequencing for therapy selection and monitoring  ...  Evaluation of Clinical Genomics Sequencing (GEECS) Working Group.  ... 
doi:10.1136/bmjgh-2020-004415 pmid:33574068 fatcat:xpovliql4ne6nn25lsmp6wg4ji

Genomic medicine and data sharing

Sobia Raza, Alison Hall
2017 British Medical Bulletin  
Effective data sharing does not occur in the UK despite being essential for the delivery of high-quality genomic services to patients across clinical specialities and to optimize advances in genomic medicine  ...  Areas of agreement: Data sharing for genomic medicine requires appropriate infrastructure and policies, together with acceptance by health professionals and the public of the necessity of data sharing  ...  This is the 100 000 Genomes Project which is undertaking whole genome sequencing of NHS patients with rare diseases and cancers.  ... 
doi:10.1093/bmb/ldx024 pmid:28910995 pmcid:PMC5862236 fatcat:ufiv636yvbgc5fauvb2mq5i63u

Shortening the diagnostic odyssey—the impact of whole genome sequencing in the NHS

Patrick F Chinnery
2021 The BMJ (British Medical Journal)  
Whole-genome sequencing of patients with rare diseases in a national health system. Nature 2020;583:96-102. doi: 10.1038/s41586-020-2434-2 pmid: 32581362 6 Schon KR, Horvath R, Wei W, etal.  ...  If centralised across the whole of the UK, whole genome sequencing would establish cohorts of patients who may wish to join clinical trials on a national basis, providing hope of a treatment for these  ... 
doi:10.1136/bmj.n2683 pmid:34732384 fatcat:uwpuqlaqaje7nid2bqsqxfubca

Abstracts from Plenary and Keynote Speakers

2018 Public Health Genomics  
Examples of whole transcriptome analysis including non-coding RNA and whole genome amplification from isolated circulating tumor cells (CTC) in metastatic breast cancer (MBC) patients will illustrate applications  ...  Improvements in sequencing technologies and implementation of genome analysis tools have enabled clinicians to identify functional and/or disease-associated genomic variants.  ...  Implementation of a Precision Health Program in a Learning Healthcare System M.S.  ... 
doi:10.1159/000493202 pmid:30219808 fatcat:s7jfdl2q5jhkrpwwotsfnw4tsa

Global implementation of genomic medicine: We are not alone

Teri A. Manolio, Marc Abramowicz, Fahd Al-Mulla, Warwick Anderson, Rudi Balling, Adam C. Berger, Steven Bleyl, Aravinda Chakravarti, Wasun Chantratita, Rex L. Chisholm, Vajira H. W. Dissanayake, Michael Dunn (+32 others)
2015 Science Translational Medicine  
Teamwork: Clearing of hurdles to the clinical translation of genomic medicine demands a unif ed focus. CREDIT: PLHERRERA/ISTOCKPHOTO  ...  PERSPECTIVE Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles  ...  , Kuwait 46300, Kuwait. 4 National Health and Medical Research Council, Canberra, ACT 2601, Australia. 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, L-4362  ... 
doi:10.1126/scitranslmed.aab0194 pmid:26041702 pmcid:PMC4898888 fatcat:4c47axf7gnh2xi6rsftjtcpcaq

Meeting report of the 2017 KidGen Renal Genetics Symposium

Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G. Sampson, Moin Saleem, Andrew J. Mallett
2018 Human Genomics  
The overall goal was to improve the understanding and direction of genomics in renal medicine in Australia and discuss barriers to the use of genomic testing within this area.  ...  This meeting addressed clinical, diagnostic, and research aspects of inherited kidney disease. More than 100 clinicians, researchers, and patient representatives attended the conference.  ...  Health Alliance and Melbourne Genomics Health Alliance.  ... 
doi:10.1186/s40246-018-0137-7 pmid:29382385 pmcid:PMC5791341 fatcat:a5dcboqucfdpra6v44q35rpuam

A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine

J. Vamathevan, E. Birney
2017 IMIA Yearbook of Medical Informatics  
The secondary use of patient data has resulted in the development of novel algorithms and has enabled a refined understanding of cellular and phenotypic mechanisms.  ...  Methods: This review describes some of the most influential bioinformatics papers and resources that have been published between 2014 and 2016 as well as the national genome sequencing initiatives that  ...  Conflicts of Interest Ewan Birney is a paid consultant to both Oxford Nanopore Technologies and GlaxoSmithKline.  ... 
doi:10.15265/iy-2017-017 pmid:29063562 pmcid:PMC6239226 fatcat:epyywv7sizbgtacvhavpuxfviq
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