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

doi:10.1007/978-3-319-67144-4_4

Review

. 2017:1031:55-94.

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

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

Gareth Baynam^{1

2

3}, Faye Bowman⁴, Karla Lister⁴, Caroline E Walker⁴, Nicholas Pachter^{5

6

7}, Jack Goldblatt^{6

8}, Kym M Boycott⁹, William A Gahl^{10

11}, Kenjiro Kosaki¹², Takeya Adachi¹³, Ken Ishii¹³, Trinity Mahede⁴, Fiona McKenzie^{6

8}, Sharron Townshend⁸, Jennie Slee⁸, Cathy Kiraly-Borri⁸, Anand Vasudevan⁸, Anne Hawkins⁸, Stephanie Broley⁸, Lyn Schofield⁸, Hedwig Verhoef^{14

15}, Tudor Groza^{16

17}, Andreas Zankl^{18

19}, Peter N Robinson^{20

21}, Melissa Haendel²², Michael Brudno^{23

24}, John S Mattick^{16

17}, Marcel E Dinger^{16

17}, Tony Roscioli^{16

17}, Mark J Cowley^{16

17}, Annie Olry²⁵, Marc Hanauer²⁵, Fowzan S Alkuraya^{26

27}, Domenica Taruscio²⁸, Manuel Posada de la Paz²⁹, Hanns Lochmüller³⁰, Kate Bushby³⁰, Rachel Thompson³⁰, Victoria Hedley³⁰, Paul Lasko³¹, Kym Mina^{32

33}, John Beilby³², Cynthia Tifft¹⁰, Mark Davis³², Nigel G Laing^{32

34}, Daria Julkowska³⁵, Yann Le Cam³⁶, Sharon F Terry³⁷, Petra Kaufmann³⁸, Iiro Eerola³⁹, Irene Norstedt³⁹, Ana Rath²⁵, Makoto Suematsu¹³, Stephen C Groft³⁸, Christopher P Austin³⁸, Ruxandra Draghia-Akli³⁹, Tarun S Weeramanthri^{40

41}, Caron Molster⁴, Hugh J S Dawkins^{42

43

44

45}

Affiliations

¹ Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
² Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia.
³ Undiagnosed Diseases Program, Subiaco, WA, Australia.
⁴ Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
⁵ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁶ School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
⁷ School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
⁸ Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
⁹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, ON K1H 8L1, Canada.
¹⁰ Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.
¹¹ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
¹² Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
¹³ Japan Agency for Medical Research and Development, Tokyo, Japan.
¹⁴ Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.
¹⁵ Cooperative Research Centre for Spatial Information, Melbourne, Western Australia, Australia.
¹⁶ Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
¹⁷ St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
¹⁸ Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, Australia.
¹⁹ Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Westmead, Australia.
²⁰ The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
²¹ Institute for Systems Genomics, University of Connecticut, Farmington, CT, 06032, USA.
²² Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, 97239, USA.
²³ Department of Computer Science, University of Toronto, Toronto, ON, M5S 2E4, Canada.
²⁴ Centre for Computational Medicine and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 1L7, Canada.
²⁵ INSERM, US14, Paris, France.
²⁶ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
²⁷ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
²⁸ Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy.
²⁹ RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
³⁰ John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
³¹ Department of Biology, McGill University, Montreal, QC, Canada.
³² Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³³ School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.
³⁴ Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia.
³⁵ Agence Nationale de la Recherche (ANR), Paris, France.
³⁶ European Organisation for Rare Diseases (EURORDIS), Paris, France.
³⁷ Genetic Alliance, Washington, DC, USA.
³⁸ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.
³⁹ Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium.
⁴⁰ Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia.
⁴¹ Public Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁴² School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴³ Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴⁴ Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴⁵ Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.

PMID: 29214566
DOI: 10.1007/978-3-319-67144-4_4

Review

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

Gareth Baynam et al. Adv Exp Med Biol. 2017.

. 2017:1031:55-94.

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

Authors

Affiliations

¹ Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
² Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia.
³ Undiagnosed Diseases Program, Subiaco, WA, Australia.
⁴ Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
⁵ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁶ School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
⁷ School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
⁸ Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
⁹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, ON K1H 8L1, Canada.
¹⁰ Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.
¹¹ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
¹² Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
¹³ Japan Agency for Medical Research and Development, Tokyo, Japan.
¹⁴ Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.
¹⁵ Cooperative Research Centre for Spatial Information, Melbourne, Western Australia, Australia.
¹⁶ Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
¹⁷ St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
¹⁸ Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, Australia.
¹⁹ Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Westmead, Australia.
²⁰ The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
²¹ Institute for Systems Genomics, University of Connecticut, Farmington, CT, 06032, USA.
²² Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, 97239, USA.
²³ Department of Computer Science, University of Toronto, Toronto, ON, M5S 2E4, Canada.
²⁴ Centre for Computational Medicine and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 1L7, Canada.
²⁵ INSERM, US14, Paris, France.
²⁶ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
²⁷ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
²⁸ Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy.
²⁹ RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
³⁰ John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
³¹ Department of Biology, McGill University, Montreal, QC, Canada.
³² Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³³ School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.
³⁴ Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia.
³⁵ Agence Nationale de la Recherche (ANR), Paris, France.
³⁶ European Organisation for Rare Diseases (EURORDIS), Paris, France.
³⁷ Genetic Alliance, Washington, DC, USA.
³⁸ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.
³⁹ Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium.
⁴⁰ Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia.
⁴¹ Public Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁴² School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴³ Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴⁴ Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.
⁴⁵ Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.

PMID: 29214566
DOI: 10.1007/978-3-319-67144-4_4

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.

Keywords: Community engagement; Information sharing; New knowledge; Policy; Public health; Translation.

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

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

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