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

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.

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

“…The low number of child cases identified in this study highlights the need for earlier identification and testing of potentially affected children. Indeed, early diagnosis and best practice care have been identified as essential to achieving health improvements for children (and adults) living with rare diseases 18…”

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)

“…They do not receive adequate assistance in covering medical costs and experience various symptoms. However, advances in domestic and international projects for undiagnosed diseases have contributed to the diagnosis of many such patients, also elucidating the pathology, treatment(s), and clinical care [ 7 , 21 , 22 ]. Because the term “undiagnosed disease” includes rare diseases with low incidence reports as well as novel diseases that have not been reported before, the International Rare Diseases Research Consortium (IRDiRC) has also launched activities to accelerate diagnosis as part of a 10-year strategy [ 14 , 16 ], to which AMED has been contributing since the planning phase [ 23 , 24 ].…”

“…Such programs involve a combination of deep phenotyping of the patients by interdisciplinary expert panels, exhaustive genetic analysis by utilizing phenotype-driven next-generation sequencing and clinical and genomic data sharing. Outcomes from undiagnosed disease programs have proven highly successful in providing a confirmed diagnosis to many, varying between 25 and 60% depending on the program [ 7 ], with outcomes such as refined treatment and informing best care. To be equitable and sustainable, these programs must be planned with a clear vision of the implementation phase because it is challenging to maintain a diagnostic system comprising interdisciplinary specialists, counsellors and program coordinators.…”

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

“…For example the Western Australian (WA) Government has a dedicated Office of Population Health Genomics. This Office has facilitated the alignment of existing resources within the WA health system and has developed policy to support a rare and undiagnosed diseases diagnostic service ( 103 ). An impact analysis of the service demonstrated a three-fold increase in confirmed diagnostic outcomes for the WA population.…”