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

  • 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
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)

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

Public health Policy Translation Information sharing Translation New knowledge Community engagement 

Notes

Acknowledgements

We thank all the individuals living with rare diseases and their families and all the involved genetic counsellors and clinical and research laboratory staff and the policy developers in the Public Health Division.

The Authors wish to acknowledge the leading role played by Dr. Ségolène Ayme over many years in raising the profile and helping to raise the awareness of rare diseases as a public health priority.

The authors acknowledge their involvement in the International Rare Disease Research Consortium (IRDiRC) and the support from The Western Australian Government Department of Health as part of its commitment to the goals of the IRDiRC. The authors gratefully acknowledge the combined financial support-in-part from the RD-Connect-European Union Seventh Framework Programme (HEALTH. 2012.2. 1.1-1-C) under grant agreement number 305444; RD Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research; and from the Australian National Health and Medical Research Council APP1055319 under the NHMRC–European Union Collaborative Research Grants scheme.

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Gareth Baynam
    • 1
    • 2
    • 3
  • Faye Bowman
    • 4
  • Karla Lister
    • 4
  • Caroline E. Walker
    • 4
  • Nicholas Pachter
    • 5
    • 6
    • 7
  • Jack Goldblatt
    • 8
    • 6
  • Kym M. Boycott
    • 9
  • William A. Gahl
    • 10
    • 11
  • Kenjiro Kosaki
    • 12
  • Takeya Adachi
    • 13
  • Ken Ishii
    • 13
  • Trinity Mahede
    • 4
  • Fiona McKenzie
    • 8
    • 6
  • Sharron Townshend
    • 8
  • Jennie Slee
    • 8
  • Cathy Kiraly-Borri
    • 8
  • Anand Vasudevan
    • 8
  • Anne Hawkins
    • 8
  • Stephanie Broley
    • 8
  • Lyn Schofield
    • 8
  • Hedwig Verhoef
    • 14
    • 15
  • Tudor Groza
    • 16
    • 17
  • Andreas Zankl
    • 18
    • 19
  • Peter N. Robinson
    • 20
    • 21
  • Melissa Haendel
    • 22
  • Michael Brudno
    • 23
    • 24
  • John S. Mattick
    • 16
    • 17
  • Marcel E. Dinger
    • 16
    • 17
  • Tony Roscioli
    • 16
    • 17
  • Mark J. Cowley
    • 16
    • 17
  • Annie Olry
    • 25
  • Marc Hanauer
    • 25
  • Fowzan S. Alkuraya
    • 26
    • 27
  • Domenica Taruscio
    • 28
  • Manuel Posada de la Paz
    • 29
  • Hanns Lochmüller
    • 30
  • Kate Bushby
    • 30
  • Rachel Thompson
    • 30
  • Victoria Hedley
    • 30
  • Paul Lasko
    • 31
  • Kym Mina
    • 32
    • 33
  • John Beilby
    • 32
  • Cynthia Tifft
    • 10
  • Mark Davis
    • 32
  • Nigel G. Laing
    • 32
    • 34
  • Daria Julkowska
    • 35
  • Yann Le Cam
    • 36
  • Sharon F. Terry
    • 37
  • Petra Kaufmann
    • 38
  • Iiro Eerola
    • 39
  • Irene Norstedt
    • 39
  • Ana Rath
    • 25
  • Makoto Suematsu
    • 13
  • Stephen C. Groft
    • 38
  • Christopher P. Austin
    • 38
  • Ruxandra Draghia-Akli
    • 39
  • Tarun S. Weeramanthri
    • 40
    • 41
  • Caron Molster
    • 4
  • Hugh J. S. Dawkins
    • 42
    • 40
    • 33
    • 43
  1. 1.Genetic Services of Western Australia, King Edward Memorial HospitalSubiacoAustralia
  2. 2.Western Australian Register of Developmental AnomaliesSubiacoAustralia
  3. 3.Undiagnosed Diseases ProgramSubiacoAustralia
  4. 4.Department of Health, Government of Western AustraliaOffice of Population Health Genomics, Public Health DivisionPerthAustralia
  5. 5.Genetic Services of Western Australia, Department of HealthGovernment of Western AustraliaPerthAustralia
  6. 6.School of Paediatrics and Child HealthUniversity of Western AustraliaPerthAustralia
  7. 7.School of Medicine and PharmacologyUniversity of Western AustraliaPerthAustralia
  8. 8.Department of Health, Government of Western AustraliaGenetic Services of Western AustraliaPerthAustralia
  9. 9.Children’s Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaCanada
  10. 10.Undiagnosed Diseases Program, Common FundNational Institutes of HealthRockvilleUSA
  11. 11.National Human Genome Research Institute, National Institutes of HealthBethesdaUSA
  12. 12.Keio University School of MedicineTokyoJapan
  13. 13.Japan Agency for Medical Research and DevelopmentTokyoJapan
  14. 14.Spatial Sciences, Department of Science and EngineeringCurtin UniversityPerthAustralia
  15. 15.Cooperative Research Centre for Spatial InformationMelbourneAustralia
  16. 16.Kinghorn Centre for Clinical GenomicsGarvan Institute for Medical ResearchDarlinghurstAustralia
  17. 17.St. Vincent’s Clinical School, Faculty of MedicineUniversity of New South Wales (UNSW)SydneyAustralia
  18. 18.Discipline of Genetic Medicine, Sydney Medical SchoolThe University of SydneySydneyAustralia
  19. 19.Academic Department of Medical GeneticsSydney Childrens Hospitals Network (Westmead)WestmeadAustralia
  20. 20.The Jackson Laboratory for Genomic MedicineFarmingtonUSA
  21. 21.Institute for Systems Genomics, University of ConnecticutFarmingtonUSA
  22. 22.Library and Department of Medical Informatics and Clinical EpidemiologyOregon Health & Science UniversityPortlandUSA
  23. 23.Department of Computer ScienceUniversity of TorontoTorontoCanada
  24. 24.Centre for Computational Medicine and Genetics and Genome Biology ProgramHospital for Sick ChildrenTorontoCanada
  25. 25.INSERMParisFrance
  26. 26.Department of GeneticsKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia
  27. 27.Department of Anatomy and Cell Biology, College of MedicineAlfaisal UniversityRiyadhSaudi Arabia
  28. 28.Centro Nazionale Malattie RareIstituto Superiore di SanitàRomeItaly
  29. 29.RDR and CIBERERInstituto de Salud Carlos IIIMadridSpain
  30. 30.John Walton Muscular Dystrophy Research CentreNewcastle University, Institute of Genetic MedicineNewcastle upon TyneUK
  31. 31.Department of BiologyMcGill UniversityMontrealCanada
  32. 32.Diagnostic Genomics, PathWest, Department of HealthGovernment of Western AustraliaPerthAustralia
  33. 33.School of Pathology and Laboratory MedicineUniversity of Western AustraliaPerthAustralia
  34. 34.Centre for Medical ResearchUniversity of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical CentrePerthAustralia
  35. 35.Agence Nationale de la Recherche (ANR)ParisFrance
  36. 36.European Organisation for Rare Diseases (EURORDIS)ParisFrance
  37. 37.Genetic AllianceWashingtonUSA
  38. 38.National Center for Advancing Translational SciencesNational Institutes of HealthBethesdaUSA
  39. 39.Directorate Health, Directorate-General for Research and Innovation (DG RTD)European CommissionBrusselsBelgium
  40. 40.Sir Walter Murdoch School of Public Health and International AffairsMurdoch UniversityPerthAustralia
  41. 41.Public Health Division, Department of HealthGovernment of Western AustraliaPerthAustralia
  42. 42.Department of Health, Government of Western AustraliaOffice of Population Health Genomics, Public Health DivisionPerthAustralia
  43. 43.Centre for Population Health ResearchCurtin Health Innovation Research Institute, Curtin University of TechnologyPerthAustralia

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