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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Notes
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Nearly all genetic diseases are rare diseases, not all rare diseases are genetic diseases. There are also very rare forms of infectious diseases, auto-immune diseases and rare cancers. To date, the cause remains unknown for many rare diseases. http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN
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The expanding role of genetics in medicine and health necessitates international collaborative efforts to create sound and just frameworks from which to build and further the research and applications of genomic technologies. Policy makers have a significant role to play in the redirection of local and global resources into genetic research and development to target the specific health needs of their communities. Their advocacy can advance genomics research and technologies, enhance the transfer and exchange of genomic information, encourage global collaborations, and improve health services worldwide. http://www.who.int/genomics/policy/Genomicsandpolicy/en/
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http://www.datalinkage-wa.org.au/data-collections. Accessed 31 August 2016
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“In just 4 years, more than 1000 families with different undiagnosed rare diseases have had their causal genes identified, often with direct and immediate clinical impact. Advancement in this area has led to substantial changes to patient management, including tailoring of medications and halting invasive procedures.” Dr. Kym Boycott http://www.cihr-irsc.gc.ca/e/49244.html. Accessed 31 August 2016.
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The management of E-Rare programme is financed by the European Commission. In addition, in 2015 under the E-Rare3, the EC contributed for the first time in co-financing of research projects. E-Rare consortium is a founding IRDiRC member.
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http://www.irdirc.org/about-us/members/. Accessed 31 August 2016.
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GA4GH was formed to help accelerate the potential of genomic medicine to advance human health. It brings together over 400 leading institutions working in healthcare, research, disease advocacy, life science, and information technology. The partners in the Global Alliance are working together to create a common framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data. http://genomicsandhealth.org/. Accessed 31 August 2016.
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G2MC is an action collaborative among global leaders in the implementation of genomic medicine in clinical care. The primary purpose is to identify opportunities and foster global collaborations for enabling the demonstration of value and the effective use of genomics in medicine. Engaging multiple stakeholders across the globe, under the auspices of the Roundtable on Genomics and Precision Health, to improve global health by catalyzing the implementation of genomic tools and knowledge into health care delivery globally. http://www.nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/Global_Genomic_Medicine_Collaborative.aspx Accessed 31 August 2016.
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RD-Connect is a unique global infrastructure project funded by the EU that links up databases, registries, biobanks and clinical bioinformatics data used in rare disease research into a central resource for researchers worldwide. http://rd-connect.eu/. Accessed 31 August 2016.
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TREAT-NMD is a EU-funded network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network’s focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. http://www.treat-nmd.eu/. Accessed 31 August 2016.
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RARE-Bestpractices is a global platform, funded by the EU, to improve the management of rare disease patients with the primary aim to promote communication on the management of rare diseases by disseminating peer validated guidelines and tools globally. http://www.rarebestpractices.eu/. Accessed 31 August 2016.
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RD-Action is a European Commission Joint Action to improve knowledge on rare diseases, disease classification and orphan drugs and to support the development of national and European policies in the field, RD-ACTION will ensure that there is an integrated, European approach to the challenges faced by the rare diseases community. http://www.rd-action.eu/. Accessed 31 August 2016.
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ERN’s for rare diseases are being developed to serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other Member States, and with international partners, to ensure the availability of information and pathways to inform best care and therapies. http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm#fragment0. Accessed 31 August 2016.
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RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrolment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the USA. http://www.ncats.nih.gov/rdcrn. Accessed 31 August 2016.
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In 2008, the National Institutes of Health’s (NIH) Undiagnosed Disease Program (UDP) was initiated to provide diagnoses for individuals who had long sought one without success. Following three international meetings (Rome, Budapest and Austria), the Undiagnosed Diseases Network International (UDNI) was established, modelled in part after the NIH UDP. Undiagnosed diseases are a global health issue, calling for an international scientific and healthcare effort. To meet this demand, the UDNI has built a consensus framework of principles, best practices and governance. The UDNI involves centers with internationally recognized expertise, and its scientific resources and know-how to fill the knowledge gaps that impede diagnosis. Consequently, the UDNI fosters the translation of research into medical practice. Active patient involvement is critical.
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The creation of the NGO Committee for Rare Diseases was approved by a vote of CoNGO member organisations in April 2014. Its inception meeting as a Substantive NGO Committee within CoNGO took place in October 2015 in New York. The formal inauguration of the Committee is currently scheduled for early November 2016 at the United Nations headquarters in New York. Accessed October 2016 http://www.ngocommitteerarediseases.org/about-us/
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United Nations Development Group, a committee consisting of the heads of all UN funds, programmes and departments working on development issues United Nations Development Programme.
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Possum [Internet]. 2016 [cited 5th August 2016]. Available from: www.possumcore.com
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On January 11, 2016 JST (January 11 EST), the Japan Agency for Medical Research and Development (AMED) signed a Memorandum of Cooperation with the National Institutes of Health (NIH) in Washington D.C. The agreement covers cooperative research projects, joint seminars, symposia and other scientific meetings, and the exchange of personnel and researchers. AMED expects the agreement to lead to collaboration in areas such as research into rare and undiagnosed diseases. AMED established three overseas offices in FY 2016 in the United States (Washington D.C.), United Kingdom (London), and Singapore.
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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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Baynam, G. et al. (2017). Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_4
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