Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2017-12-07

AUTHORS

Gareth Baynam , Faye Bowman , Karla Lister , Caroline E. Walker , Nicholas Pachter , Jack Goldblatt , Kym M. Boycott , William A. Gahl , Kenjiro Kosaki , Takeya Adachi , Ken Ishii , Trinity Mahede , Fiona McKenzie , Sharron Townshend , Jennie Slee , Cathy Kiraly-Borri , Anand Vasudevan , Anne Hawkins , Stephanie Broley , Lyn Schofield , Hedwig Verhoef , Tudor Groza , Andreas Zankl , Peter N. Robinson , Melissa Haendel , Michael Brudno , John S. Mattick , Marcel E. Dinger , Tony Roscioli , Mark J. Cowley , Annie Olry , Marc Hanauer , Fowzan S. Alkuraya , Domenica Taruscio , Manuel Posada de la Paz , Hanns Lochmüller , Kate Bushby , Rachel Thompson , Victoria Hedley , Paul Lasko , Kym Mina , John Beilby , Cynthia Tifft , Mark Davis , Nigel G. Laing , Daria Julkowska , Yann Le Cam , Sharon F. Terry , Petra Kaufmann , Iiro Eerola , Irene Norstedt , Ana Rath , Makoto Suematsu , Stephen C. Groft , Christopher P. Austin , Ruxandra Draghia-Akli , Tarun S. Weeramanthri , Caron Molster , Hugh J. S. Dawkins

ABSTRACT

Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care. In the rare diseases field, the vast majority of diseases are caused by destructive but previously difficult to identify protein-coding gene mutations. The reduction in cost of genetic testing and advances in the clinical use of genome sequencing, data science and imaging are converging to provide more precise understandings of the ‘person-time-place’ triad. That is: who is affected (people); when the disease is occurring (time); and where the disease is occurring (place). Consequently we are witnessing a paradigm shift in public health policy and practice towards ‘precision public health’.Patient and stakeholder engagement has informed the need for a national public health policy framework for rare diseases. The engagement approach in different countries has produced highly comparable outcomes and objectives. Knowledge and experience sharing across the international rare diseases networks and partnerships has informed the development of the Western Australian Rare Diseases Strategic Framework 2015–2018 (RD Framework) and Australian government health briefings on the need for a National plan.The RD Framework is guiding the translation of genomic and other technologies into the Western Australian health system, leading to greater precision in diagnostic pathways and care, and is an example of how a precision public health framework can improve health outcomes for the rare diseases population.Five vignettes are used to illustrate how policy decisions provide the scaffolding for translation of new genomics knowledge, and catalyze transformative change in delivery of clinical services. The vignettes presented here are from an Australian perspective and are not intended to be comprehensive, but rather to provide insights into how a new and emerging ‘precision public health’ paradigm can improve the experiences of patients living with rare diseases, their caregivers and families.The conclusion is that genomic public health is informed by the individual and family needs, and the population health imperatives of an early and accurate diagnosis; which is the portal to best practice care. Knowledge sharing is critical for public health policy development and improving the lives of people living with rare diseases. More... »

PAGES

55-94

Book

TITLE

Rare Diseases Epidemiology: Update and Overview

ISBN

978-3-319-67142-0
978-3-319-67144-4

Author Affiliations

  • Undiagnosed Diseases Program, Subiaco, WA, Australia
  • Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia
  • School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia
  • School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
  • Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, ON K1H 8L1, Ottawa, ON, Canada
  • National Human Genome Research Institute, National Institutes of Health, 20892, Bethesda, MD, USA
  • Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582, Tokyo, Japan
  • Japan Agency for Medical Research and Development, Tokyo, Japan
  • Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia
  • Cooperative Research Centre for Spatial Information, Melbourne, Western Australia, Australia
  • St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales (UNSW), 2052, Sydney, NSW, Australia
  • Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Westmead, Australia
  • Institute for Systems Genomics, University of Connecticut, 06032, Farmington, CT, USA
  • Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, 97239, Portland, OR, USA
  • Centre for Computational Medicine and Genetics and Genome Biology Program, Hospital for Sick Children, M5G 1L7, Toronto, ON, Canada
  • INSERM, US14, Paris, France
  • Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  • Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy
  • RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain
  • John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK
  • Department of Biology, McGill University, Montreal, QC, Canada
  • School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia
  • Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia
  • Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA
  • Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia
  • Agence Nationale de la Recherche (ANR), Paris, France
  • European Organisation for Rare Diseases (EURORDIS), Paris, France
  • Genetic Alliance, Washington, DC, USA
  • National Center for Advancing Translational Sciences, National Institutes of Health, 20892-1851, Bethesda, MD, USA
  • Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium
  • Public Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia
  • Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-3-319-67144-4_4

    DOI

    http://dx.doi.org/10.1007/978-3-319-67144-4_4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1099613551

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29214566


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