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Title: Rare Disease Roadmap: Navigating the challenges and barriers to deliver improved outcomes for patients living with a Rare Disease

Author
item BELLGARD, M - National Center For Genome Resources
item SLEEMAN, MARK - Monash University
item Guerrero, Felicito
item FLETCHER, SUE - Murdoch University
item BAYNAM, GARETH - University Of Western Australia
item GOLDBLATT, JACK - University Of Western Australia
item RUBINSTEIN, YAFFA - National Institute Of Health (INSA)
item BELL, CALLUM - National Center For Genome Resources
item GROFT, STEPHEN - National Institute Of Health (INSA)
item BARRERO, ROBERTO - Murdoch University
item BITTLES, ALAN - Murdoch University
item WILTON, STEPHEN - Murdoch University
item MASON, CHRISTOPHER - Weill Medical College - Cornell
item WEERAMANTHRI, TARUN - Weill Medical College - Cornell

Submitted to: Health Policy and Technology
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 8/11/2014
Publication Date: 12/1/2014
Citation: Bellgard, M.I., Sleeman, M.W., Guerrero, F., Fletcher, S., Baynam, G., Goldblatt, J., Rubinstein, Y., Bell, C., Groft, S., Barrero, R., Bittles, A.H., Wilton, S.D., Mason, C.E., Weeramanthri, T. 2014. Rare Disease Roadmap: Navigating the challenges and barriers to deliver improved outcomes for patients living with a Rare Disease. Health Policy and Technology. 3(4):325-335.

Interpretive Summary: Rare Disease registries have now been recognized as a global priority for progress in monitoring, documenting, preventing, and treating rare diseases. However, a disease registry is only one element of the necessary steps to treat rare diseases. Here, we outline what we believe are ten key components in rare disease research and describe critical relationships between them. These components are i) client-practitioner partnerships; ii) disease registries; iii) Biobanks to store actual samples; iv) Genomics and other -omics research approaches; v) Community-based and population-wide studies; vi) Bioinformatics and high performance computing; vii) Interactions with pharmaceutical companies to facilitate drug discovery; viii) Personalised treatments based on genetic analysis; ix) eHealth and a whole of life record; and x) Regulatory frameworks, particularly with regard to specimen and data sharing and return of results. Each component has its own inherent complexity, and must be effectively integrated with the other components to facilitate the development of a Rare Disease Roadmap. This Roadmap is a means for providing a comprehensive approach to the management of rare diseases, and aid health care providers in delivering services for individuals affected with rare diseases. We demonstrate that navigating through the Roadmap can provide relevant health stakeholders with a blueprint to understand the challenges and barriers which need to be overcome within and across the constituent components. The Rare Disease Roadmap will assist decision-making at all health stakeholder levels and enable the seamless integration of new knowledge, standard operating procedures and the implementation of best practices in treatment for patients.

Technical Abstract: Rare Disease registries have now been recognized as a global priority for progress in monitoring, documenting natural course, preventing and treating rare diseases. However, a disease registry is only one element of Rare Disease translational research. Here, we outline what we believe are ten key components in comprehensive rare disease translational research and describe critical relationships between them. These components are i) client-practitioner partnerships; ii) Disease registries; iii) Biobanks; iv) Genomics and other -omics platforms; v) Community-based and population-wide studies; vi) Bioinformatics and high performance computing; vii) Interactions with pharma to facilitate Drug discovery; viii) Personalised treatments based on genotype-phenotype correlations; ix) eHealth and a whole of life record; and x) Regulatory frameworks, particularly with regard to specimen and data sharing and return of results. Each component has its own inherent complexity, and if effectively integrated will collectively facilitate the development of a Rare Disease Roadmap for a comprehensive approach to the future management of rare diseases, and aid health care providers in delivering services for individuals affected with rare diseases. We demonstrate that navigating through the Roadmap can provide relevant health stakeholders with a blueprint to understand the challenges and barriers which need to be overcome within and across the constituent components. The Rare Disease Roadmap will assist decision-making at all health stakeholder levels and enable the seamless integration of new knowledge, standard operating procedures and the implementation of best practice.