Frontiers in Genetics (Jul 2019)
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
- Christoffer Nellåker,
- Christoffer Nellåker,
- Christoffer Nellåker,
- Fowzan S. Alkuraya,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Raphael A. Bernier,
- Francois P.J. Bernier,
- Vanessa Boulanger,
- Michael Brudno,
- Han G. Brunner,
- Jill Clayton-Smith,
- Benjamin Cogné,
- Hugh J.S. Dawkins,
- Hugh J.S. Dawkins,
- Hugh J.S. Dawkins,
- Bert B.A. deVries,
- Sofia Douzgou,
- Tracy Dudding-Byth,
- Evan E. Eichler,
- Evan E. Eichler,
- Michael Ferlaino,
- Michael Ferlaino,
- Karen Fieggen,
- Helen V. Firth,
- David R. FitzPatrick,
- Dylan Gration,
- Tudor Groza,
- Melissa Haendel,
- Nina Hallowell,
- Nina Hallowell,
- Nina Hallowell,
- Ada Hamosh,
- Jayne Hehir-Kwa,
- Marc-Phillip Hitz,
- Mark Hughes,
- Usha Kini,
- Tjitske Kleefstra,
- R Frank Kooy,
- Peter Krawitz,
- Sébastien Küry,
- Melissa Lees,
- Gholson J. Lyon,
- Stanislas Lyonnet,
- Julien L. Marcadier,
- Stephen Meyn,
- Veronika Moslerová,
- Juan M. Politei,
- Cathryn C. Poulton,
- F Lucy Raymond,
- Margot R.F. Reijnders,
- Peter N. Robinson,
- Corrado Romano,
- Catherine M. Rose,
- David C.G. Sainsbury,
- Lyn Schofield,
- Vernon R. Sutton,
- Marek Turnovec,
- Anke Van Dijck,
- Hilde Van Esch,
- Andrew O.M. Wilkie,
- The Minerva Consortium
Affiliations
- Christoffer Nellåker
- Nuffield Department of Women’s and Reproductive Health, University of Oxford, Oxford, United Kingdom
- Christoffer Nellåker
- Big Data Institute, University of Oxford, Oxford, United Kingdom
- Christoffer Nellåker
- Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom
- Fowzan S. Alkuraya
- Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
- Gareth Baynam
- Western Australian Register of Developmental Anomalies, and Genetic Services of Western Australia, King Edward Memorial, Subiaco, WA, Australia
- Gareth Baynam
- Telethon Kids Institute and School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
- Gareth Baynam
- Spatial Sciences, Science and Engineering, Curtin University, Perth, WA, Australia
- Raphael A. Bernier
- Department of Psychiatry & Behavioral Science, University of Washington School of Medicine, Seattle, WA, United States
- Francois P.J. Bernier
- Alberta Children’s Hospital Research Institute, Calgary, AB, Canada
- Vanessa Boulanger
- 0National Organization for Rare Disorders, Danbury, CT, United States
- Michael Brudno
- 1Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada
- Han G. Brunner
- 2Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
- Jill Clayton-Smith
- 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary’s Hospital, Manchester, United Kingdom
- Benjamin Cogné
- 4CHU Nantes, Service de Génétique Médicale, Nantes, France
- Hugh J.S. Dawkins
- 5Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health Government of Western Australia, Perth, WA, Australia
- Hugh J.S. Dawkins
- 6Sir Walter Murdoch School of Policy and International Affairs, Murdoch University
- Hugh J.S. Dawkins
- 7Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia
- Bert B.A. deVries
- 2Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
- Sofia Douzgou
- 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary’s Hospital, Manchester, United Kingdom
- Tracy Dudding-Byth
- 8Hunter Genetics, Waratah, NSW, Australia
- Evan E. Eichler
- 9Department of Genome Science, University of Washington School of Medicine, Seattle, WA, United States
- Evan E. Eichler
- 0Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States
- Michael Ferlaino
- Nuffield Department of Women’s and Reproductive Health, University of Oxford, Oxford, United Kingdom
- Michael Ferlaino
- Big Data Institute, University of Oxford, Oxford, United Kingdom
- Karen Fieggen
- 1Division of Human Genetics, Level 3, Wernher and Beit North, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa
- Helen V. Firth
- 2Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
- David R. FitzPatrick
- 3MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Dylan Gration
- 4Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia
- Tudor Groza
- 5The Garvan Institute, Sydney, NSW, Australia
- Melissa Haendel
- 6Oregon Health & Science University, Portland, OR, United States
- Nina Hallowell
- Big Data Institute, University of Oxford, Oxford, United Kingdom
- Nina Hallowell
- 7Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom
- Nina Hallowell
- 8Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom
- Ada Hamosh
- 9McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States
- Jayne Hehir-Kwa
- 0Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands
- Marc-Phillip Hitz
- 1Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein–Campus Kiel, Kiel, Germany
- Mark Hughes
- 2Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom
- Usha Kini
- 3Oxford Centre for Genomic Medicine, Oxford, United Kingdom
- Tjitske Kleefstra
- 2Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
- R Frank Kooy
- 4Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
- Peter Krawitz
- 5Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische-Friedrich-Wilhelms-Universität, Bonn, Germany
- Sébastien Küry
- 4CHU Nantes, Service de Génétique Médicale, Nantes, France
- Melissa Lees
- 6Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
- Gholson J. Lyon
- 7George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States
- Stanislas Lyonnet
- 8Imagine Institute, Paris, France
- Julien L. Marcadier
- Alberta Children’s Hospital Research Institute, Calgary, AB, Canada
- Stephen Meyn
- 1Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada
- Veronika Moslerová
- 9Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia
- Juan M. Politei
- 0Laboratorio Chamoles, Errores Congénitos del Metabolismo, Buenos Aires, Argentina
- Cathryn C. Poulton
- 1Department of Paediatrics and Neonates, Fiona Stanley Hospital, Perth, WA, Australia
- F Lucy Raymond
- 2CIMR (Wellcome Trust/MRC Building), Cambridge, United Kingdom
- Margot R.F. Reijnders
- 3Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands
- Peter N. Robinson
- 4The Jackson Laboratory, Farmington, CT, United States
- Corrado Romano
- 5Oasi Research Institute-IRCCS, Troina, Italy
- Catherine M. Rose
- 6Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children’s Hospital, Parkville, VIC, Australia
- David C.G. Sainsbury
- 7Northern & Yorkshire Cleft Lip and Palate Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
- Lyn Schofield
- 4Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia
- Vernon R. Sutton
- 8Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States
- Marek Turnovec
- 9Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia
- Anke Van Dijck
- 9Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium
- Hilde Van Esch
- 0Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium
- Andrew O.M. Wilkie
- 1Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom
- The Minerva Consortium
- DOI
- https://doi.org/10.3389/fgene.2019.00611
- Journal volume & issue
-
Vol. 10
Abstract
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health.
Keywords
