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 & 39 others 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

Research output: Chapter in Book/Conference paperChapter

6 Citations (Scopus)

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.

Original languageEnglish
Title of host publicationRare Diseases Epidemiology: Update and Overview
EditorsManuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft
Place of PublicationSwitzerland
PublisherSpringer
Pages55-94
Number of pages40
Edition2nd
ISBN (Electronic)9783319671444
ISBN (Print)9783319671420
DOIs
Publication statusPublished - 2017

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1031
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

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Public health
Rare Diseases
Public Health
Health Policy
Health
Public Policy
Public Health Practice
Vulnerable Populations
Technology
Early Diagnosis
Population
Patient Participation
Health Priorities
Genes
Policy Making
Genetic Testing
Genomics
Population Groups
Practice Guidelines
Epidemiology

Cite this

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., ... Dawkins, H. J. S. (2017). Improved diagnosis and care for rare diseases through implementation of precision public health framework. In M. Posada de la Paz, D. Taruscio, & S. C. Groft (Eds.), Rare Diseases Epidemiology: Update and Overview (2nd ed., pp. 55-94). (Advances in Experimental Medicine and Biology; Vol. 1031). Switzerland: Springer. https://doi.org/10.1007/978-3-319-67144-4_4
Baynam, Gareth ; Bowman, Faye ; Lister, Karla ; Walker, Caroline E. ; Pachter, Nicholas ; Goldblatt, Jack ; Boycott, Kym M. ; Gahl, William A. ; Kosaki, Kenjiro ; Adachi, Takeya ; Ishii, Ken ; Mahede, Trinity ; McKenzie, Fiona ; Townshend, Sharron ; Slee, Jennie ; Kiraly-Borri, Cathy ; Vasudevan, Anand ; Hawkins, Anne ; Broley, Stephanie ; Schofield, Lyn ; Verhoef, Hedwig ; Groza, Tudor ; Zankl, Andreas ; Robinson, Peter N. ; Haendel, Melissa ; Brudno, Michael ; Mattick, John S. ; Dinger, Marcel E. ; Roscioli, Tony ; Cowley, Mark J. ; Olry, Annie ; Hanauer, Marc ; Alkuraya, Fowzan S. ; Taruscio, Domenica ; Posada De La Paz, Manuel ; Lochmüller, Hanns ; Bushby, Kate ; Thompson, Rachel ; Hedley, Victoria ; Lasko, Paul ; Mina, Kym ; Beilby, John ; Tifft, Cynthia ; Davis, Mark ; Laing, Nigel G. ; Julkowska, Daria ; Le Cam, Yann ; Terry, Sharon F. ; Kaufmann, Petra ; Eerola, Iiro ; Norstedt, Irene ; Rath, Ana ; Suematsu, Makoto ; Groft, Stephen C. ; Austin, Christopher P. ; Draghia-Akli, Ruxandra ; Weeramanthri, Tarun S. ; Molster, Caron ; Dawkins, Hugh J.S. / Improved diagnosis and care for rare diseases through implementation of precision public health framework. Rare Diseases Epidemiology: Update and Overview. editor / Manuel Posada de la Paz ; Domenica Taruscio ; Stephen C. Groft. 2nd. ed. Switzerland : Springer, 2017. pp. 55-94 (Advances in Experimental Medicine and Biology).
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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.",
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Baynam, G, Bowman, F, Lister, K, Walker, CE, Pachter, N, Goldblatt, J, Boycott, KM, Gahl, WA, Kosaki, K, Adachi, T, Ishii, K, Mahede, T, McKenzie, F, Townshend, S, Slee, J, Kiraly-Borri, C, Vasudevan, A, Hawkins, A, Broley, S, Schofield, L, Verhoef, H, Groza, T, Zankl, A, Robinson, PN, Haendel, M, Brudno, M, Mattick, JS, Dinger, ME, Roscioli, T, Cowley, MJ, Olry, A, Hanauer, M, Alkuraya, FS, Taruscio, D, Posada De La Paz, M, Lochmüller, H, Bushby, K, Thompson, R, Hedley, V, Lasko, P, Mina, K, Beilby, J, Tifft, C, Davis, M, Laing, NG, Julkowska, D, Le Cam, Y, Terry, SF, Kaufmann, P, Eerola, I, Norstedt, I, Rath, A, Suematsu, M, Groft, SC, Austin, CP, Draghia-Akli, R, Weeramanthri, TS, Molster, C & Dawkins, HJS 2017, Improved diagnosis and care for rare diseases through implementation of precision public health framework. in M Posada de la Paz, D Taruscio & SC Groft (eds), Rare Diseases Epidemiology: Update and Overview. 2nd edn, Advances in Experimental Medicine and Biology, vol. 1031, Springer, Switzerland, pp. 55-94. https://doi.org/10.1007/978-3-319-67144-4_4

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

Rare Diseases Epidemiology: Update and Overview. ed. / Manuel Posada de la Paz; Domenica Taruscio; Stephen C. Groft. 2nd. ed. Switzerland : Springer, 2017. p. 55-94 (Advances in Experimental Medicine and Biology; Vol. 1031).

Research output: Chapter in Book/Conference paperChapter

TY - CHAP

T1 - Improved diagnosis and care for rare diseases through implementation of precision public health framework

AU - Baynam, Gareth

AU - Bowman, Faye

AU - Lister, Karla

AU - Walker, Caroline E.

AU - Pachter, Nicholas

AU - Goldblatt, Jack

AU - Boycott, Kym M.

AU - Gahl, William A.

AU - Kosaki, Kenjiro

AU - Adachi, Takeya

AU - Ishii, Ken

AU - Mahede, Trinity

AU - McKenzie, Fiona

AU - Townshend, Sharron

AU - Slee, Jennie

AU - Kiraly-Borri, Cathy

AU - Vasudevan, Anand

AU - Hawkins, Anne

AU - Broley, Stephanie

AU - Schofield, Lyn

AU - Verhoef, Hedwig

AU - Groza, Tudor

AU - Zankl, Andreas

AU - Robinson, Peter N.

AU - Haendel, Melissa

AU - Brudno, Michael

AU - Mattick, John S.

AU - Dinger, Marcel E.

AU - Roscioli, Tony

AU - Cowley, Mark J.

AU - Olry, Annie

AU - Hanauer, Marc

AU - Alkuraya, Fowzan S.

AU - Taruscio, Domenica

AU - Posada De La Paz, Manuel

AU - Lochmüller, Hanns

AU - Bushby, Kate

AU - Thompson, Rachel

AU - Hedley, Victoria

AU - Lasko, Paul

AU - Mina, Kym

AU - Beilby, John

AU - Tifft, Cynthia

AU - Davis, Mark

AU - Laing, Nigel G.

AU - Julkowska, Daria

AU - Le Cam, Yann

AU - Terry, Sharon F.

AU - Kaufmann, Petra

AU - Eerola, Iiro

AU - Norstedt, Irene

AU - Rath, Ana

AU - Suematsu, Makoto

AU - Groft, Stephen C.

AU - Austin, Christopher P.

AU - Draghia-Akli, Ruxandra

AU - Weeramanthri, Tarun S.

AU - Molster, Caron

AU - Dawkins, Hugh J.S.

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - Community engagement

KW - Information sharing

KW - New knowledge

KW - Policy

KW - Public health

KW - Translation

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BT - Rare Diseases Epidemiology: Update and Overview

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Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J et al. Improved diagnosis and care for rare diseases through implementation of precision public health framework. In Posada de la Paz M, Taruscio D, Groft SC, editors, Rare Diseases Epidemiology: Update and Overview. 2nd ed. Switzerland: Springer. 2017. p. 55-94. (Advances in Experimental Medicine and Biology). https://doi.org/10.1007/978-3-319-67144-4_4