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Policy and Practice Reviews ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.00611

Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

 Christoffer Nellåker1*,  Fowzan S. Alkuraya2,  Gareth Baynam3, Raphael Bernier4, Francois P. Bernier5, Vanessa Boulanger6, Michael Brudno7, Han G. Brunner8, Jill Clayton-Smith9, Benjamin Cogné10,  Hugh J. Dawkins11, Bert deVries8, Sofia Douzgou9, Tracy Dudding12, Evan E. Eichler13, Michael Ferlaino1, Karen Fieggen14, Helen V. Firth15, David R. FitzPatrick16, Dylan Gration3, Tudor Groza17,  Melissa A. Haendel18, Nina Hallowell1, Ada Hamosh19, Jayne Hehir-Kwa20,  Marc-Phillip Hitz21, Mark Hughes22, Usha Kini23,  Tjitske Kleefstra8,  R Frank Kooy24,  Peter M. Krawitz25, Sébastien Küry10, Melissa Lees26, Gholson J. Lyon27, Stanislas Lyonnet28, Julien Marcadier29, Stephen Meyn7, Veronika Moslerová30,  Juan M. Politei31, Cathryn C. Poulton32,  F Lucy Raymond33, Margot Reijnders34,  Peter N. Robinson35,  Corrado Romano36, Catherine M. Rose37, David C. Sainsbury38, Lyn Schofield3,  Vernon R. Sutton39, Marek Turnovec30,  Anke Van Dijck24, Hilde Van Esch40 and Andrew O. Wilkie41
  • 1University of Oxford, United Kingdom
  • 2King Faisal Specialist Hospital & Research Centre, Saudi Arabia
  • 3King Edward Memorial Hospital, Government of Western Australia Department of Health, Australia
  • 4Department of Psychiatry and Behavioral Sciences, University of Washington, United States
  • 5Alberta Children's Hospital Research Institute (ACHRI), Canada
  • 6National Organization for Rare Disorders, United States
  • 7Hospital for Sick Children, Canada
  • 8Radboud University Nijmegen Medical Centre, Netherlands
  • 9Central Manchester University Hospitals NHS Foundation Trust, United Kingdom
  • 10Centre Hospitalier Universitaire (CHU) de Nantes, France
  • 11Government of Western Australia Department of Health, Australia
  • 12HNEkidshealth, Australia
  • 13Department of Genome Sciences, University of Washington, United States
  • 14University of Cape Town, South Africa
  • 15Wellcome Trust Sanger Institute (WT), United Kingdom
  • 16MRC Human Genetics Unit, University of Edinburgh, United Kingdom
  • 17Garvan Institute of Medical Research, Australia
  • 18Oregon Health & Science University, United States
  • 19Johns Hopkins University, United States
  • 20Princess Maxima Center for Pediatric Oncology, Netherlands
  • 21University Medical Center Schleswig-Holstein, Germany
  • 22Western General Hospital, United Kingdom
  • 23Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, United Kingdom
  • 24University of Antwerp, Belgium
  • 25University of Bonn, Germany
  • 26Great Ormond Street Hospital, United Kingdom
  • 27Institute for Basic Research in Developmental Disabilities (IBR), United States
  • 28INSERM U1163 Institut Imagine, France
  • 29University of Calgary, Canada
  • 30Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University, Czechia
  • 31Laboratorio Chamoles, Argentina
  • 32Fiona Stanley Hospital, Australia
  • 33Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
  • 34Maastricht University Medical Centre, Netherlands
  • 35Jackson Laboratory, United States
  • 36Oasi Maria SS. Association ONLUS (IRCCS), Italy
  • 37Murdoch Childrens Research Institute, Australia
  • 38Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom
  • 39Department of Molecular and Human Genetics, Baylor College of Medicine, United States
  • 40Center for Human Genetics, KU Leuven, Belgium
  • 41Weatherall Institute of Molecular Medicine (MRC), United Kingdom

The clinical utility of computational phenotyping for genetic and rare diseases is increasingly appreciated, however, its true potential is yet to be fully realised. 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 healthcare, 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: data sharing, phenotyping, Patient Information, data protection, rare disease, Consortium, facial features

Received: 21 Sep 2018; Accepted: 12 Jun 2019.

Edited by:

Dov Greenbaum, Yale University, United States

Reviewed by:

Alexandre Erler, The Chinese University of Hong Kong, China
Chih-hsing Ho, Academia Sinica, Taiwan  

Copyright: © 2019 Nellåker, Alkuraya, Baynam, Bernier, Bernier, Boulanger, Brudno, Brunner, Clayton-Smith, Cogné, Dawkins, deVries, Douzgou, Dudding, Eichler, Ferlaino, Fieggen, Firth, FitzPatrick, Gration, Groza, Haendel, Hallowell, Hamosh, Hehir-Kwa, Hitz, Hughes, Kini, Kleefstra, Kooy, Krawitz, Küry, Lees, Lyon, Lyonnet, Marcadier, Meyn, Moslerová, Politei, Poulton, Raymond, Reijnders, Robinson, Romano, Rose, Sainsbury, Schofield, Sutton, Turnovec, Van Dijck, Van Esch and Wilkie. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Christoffer Nellåker, University of Oxford, Oxford, United Kingdom, christoffer.nellaker@wrh.ox.ac.uk