Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.

The expanding use of genomic technologies encompasses all phases of life, from the embryo to the elderly, and even the posthumous phase. In this paper, we present the spectrum of genomic healthcare applications, and describe their scope and challenges at different stages of the life cycle. The integration of genomic technology into healthcare presents unique ethical issues that challenge traditional aspects of healthcare delivery. These challenges include the different definitions of utility as applied to genomic information; the particular characteristics of genetic data that influence how it might be protected, used and shared; and the difficulties applying existing models of informed consent, and how new consent models might be needed.

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

This paper examines key considerations for the successful integration of genomic technologies into healthcare systems. All healthcare systems strive to introduce new technologies that are effective and affordable, but genomics offers particular challenges, given the rapid evolution of the technology. In this context we frame internationally relevant discussion points relating to effective and sustainable implementation of genomic testing within the strategic priority areas of the recently endorsed Australian National Health Genomics Policy Framework. The priority areas are services, data, workforce, finances, and person-centred care. In addition, we outline recommendations from a government perspective through the lens of the Australian health system, and argue that resources should be allocated not to just genomic testing alone, but across the five strategic priority areas for full effectiveness.

Positioning food standards programmes to protect public health: current performance, future opportunities and necessary reforms.

OBJECTIVE: To assess current performance and identify opportunities and reforms necessary for positioning a food standards programme to help protect public health against dietary risk factors. DESIGN: A case study design in which a food standards programme's public health protection performance was analysed against an adapted Donabedian model for assessing health-care quality. The criteria were the food standards programme's structure (governance arrangements and membership of its decision-making committees), process (decision-making tools, public engagement and transparency) and food standards outcomes, which provided the information base on which performance quality was inferred. SETTING: The Australia and New Zealand food standards programme.ParticipantsThe structure, process and outcomes of the Programme. RESULTS: The Programme's structure and processes produce food standards outcomes that perform well in protecting public health from risks associated with nutrient intake excess or inadequacy. The Programme performs less well in protecting public health from the proliferation and marketing of 'discretionary' foods that can exacerbate dietary risks. Opportunities to set food standards to help protect public health against dietary risks are identified. CONCLUSIONS: The structures and decision-making processes used in food standards programmes need to be reformed so they are fit for purpose for helping combat dietary risks caused by dietary excess and imbalances. Priorities include reforming the risk analysis framework, including the nutrient profiling scoring criterion, by extending their nutrition science orientation from a nutrient (reductionist) paradigm to be more inclusive of a food/diet (holistic) paradigm.

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peoples. We take an Australian perspective to illustrate some key areas that are fundamental to the equitable translation of new knowledge for the improved diagnosis of genetic and rare diseases for Indigenous people. Specifically, we focus on inequalities in access to clinical genetics services and the lack of genetic and phenomic reference data to inform diagnoses. We provide examples of ways in which these inequities are being addressed through Australian partnerships to support a harmonious and inclusive approach to ensure that benefits from traditional wisdom, community knowledge and shared experiences are interwoven to support and inform implementation of new knowledge from genomics and precision public health. This will serve to deliver benefits to all of our diverse citizens, including Indigenous populations.

Impact of policy support on uptake of evidence-based continuous quality improvement activities and the quality of care for Indigenous Australians: a comparative case study.

OBJECTIVES: To examine the impact of state/territory policy support on (1) uptake of evidence-based continuous quality improvement (CQI) activities and (2) quality of care for Indigenous Australians. DESIGN: Mixed-method comparative case study methodology, drawing on quality-of-care audit data, documentary evidence of policies and strategies and the experience and insights of stakeholders involved in relevant CQI programmes. We use multilevel linear regression to analyse jurisdictional differences in quality of care. SETTING: Indigenous primary healthcare services across five states/territories of Australia. PARTICIPANTS: 175 Indigenous primary healthcare services. INTERVENTIONS: A range of national and state/territory policy and infrastructure initiatives to support CQI, including support for applied research. PRIMARY AND SECONDARY OUTCOME MEASURES: (i) Trends in the consistent uptake of evidence-based CQI tools available through a research-based CQI initiative (the Audit and Best Practice in Chronic Disease programme) and (ii) quality of care (as reflected in adherence to best practice guidelines). RESULTS: Progressive uptake of evidence-based CQI activities and steady improvements or maintenance of high-quality care occurred where there was long-term policy and infrastructure support for CQI. Where support was provided but not sustained there was a rapid rise and subsequent fall in relevant CQI activities. CONCLUSIONS: Health authorities should ensure consistent and sustained policy and infrastructure support for CQI to enable wide-scale and ongoing improvement in quality of care and, subsequently, health outcomes. It is not sufficient for improvement initiatives to rely on local service managers and clinicians, as their efforts are strongly mediated by higher system-level influences.

Precision in Setting Cancer Prevention Priorities: Synthesis of Data, Literature, and Expert Opinion.

Cancer will continue to be a leading cause of ill health and death unless we can capitalize on the potential for 30-40% of these cancers to be prevented. In this light, cancer prevention represents an enormous opportunity for public health, potentially saving much of the pain, anguish, and cost associated with treating cancer. However, there is a challenge for governments, and the wider community, in prioritizing cancer prevention activities, especially given increasing financial constraints. This paper describes a method for identifying cancer prevention priorities. This method synthesizes detailed cancer statistics, expert opinion, and the published literature for the priority setting process. The process contains four steps: assessing the impact of cancer types; identifying cancers with the greatest impact; considering opportunities for prevention; and combining information on impact and preventability. The strength of our approach is that it is straightforward, transparent and reproducible for other settings. Applying this method in Western Australia produced a priority list of seven adult cancers which were identified as having not only the biggest impact on the community but also the best opportunities for prevention. Work conducted in an additional project phase went on to present data on these priority cancers to a public consultation and develop an agenda for action in cancer prevention.

Initiating an undiagnosed diseases program in the Western Australian public health system.

BACKGROUND: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients - the Undiagnosed Diseases Program-Western Australia (UDP-WA). RESULTS: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. CONCLUSION: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those with a specific diagnostic need, and initiated by redirecting existing clinical and financial resources. The UDP-WA supports the provision of equitable and sustainable diagnostics and simultaneously supports capacity building in clinical care and translational research, for those with undiagnosed, typically rare, conditions.

3-Dimensional Facial Analysis-Facing Precision Public Health.

Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population groups, with a view to improving the overall health of populations. This promises to lead to more precise clinical and public health practices, across the continuum of prevention, screening, diagnosis, and treatment. A phenotype is the set of observable characteristics of an individual resulting from the interaction of a genotype with the environment. Precision (deep) phenotyping applies innovative technologies to exhaustively and more precisely examine the discrete components of a phenotype and goes beyond the information usually included in medical charts. This form of phenotyping is a critical component of more precise diagnostic capability and 3-dimensional facial analysis (3DFA) is a key technological enabler in this domain. In this paper, we examine the potential of 3DFA as a public health tool, by viewing it against the 10 essential public health services of the "public health wheel," developed by the US Centers for Disease Control. This provides an illustrative framework to gage current and emergent applications of genomic technologies for implementing precision public health.

Variation in Population Vulnerability to Heat Wave in Western Australia.

Heat waves (HWs) have killed more people in Australia than all other natural hazards combined. Climate change is expected to increase the frequency, duration, and intensity of HWs and leads to a doubling of heat-related deaths over the next 40 years. Despite being a significant public health issue, HWs do not attract the same level of attention from researchers, policy makers, and emergency management agencies compared to other natural hazards. The purpose of the study was to identify risk factors that might lead to population vulnerability to HW in Western Australia (WA). HW vulnerability and resilience among the population of the state of WA were investigated by using time series analysis. The health impacts of HWs were assessed by comparing the associations between hospital emergency department (ED) presentations, hospital admissions and mortality data, and intensities of HW. Risk factors including age, gender, socioeconomic status (SES), remoteness, and geographical locations were examined to determine whether certain population groups were more at risk of adverse health impacts due to extreme heat. We found that hospital admissions due to heat-related conditions and kidney diseases, and overall ED attendances, were sensitive indicators of HW. Children aged 14 years or less and those aged 60 years or over were identified as the most vulnerable populations to HWs as shown in ED attendance data. Females had more ED attendances and hospital admissions due to kidney diseases; while males had more heat-related hospital admissions than females. There were significant dose-response relationships between HW intensity and SES, remoteness, and health service usage. The more disadvantaged and remotely located the population, the higher the health service usage during HWs. Our study also found that some population groups and locations were resilient to extreme heat. We produced a mapping tool, which indicated geographic areas throughout WA with various vulnerability and resilience levels to HW. The findings from this study will allow local government, community service organizations, and agencies in health, housing, and education to better identify and understand the degree of vulnerability to HW throughout the state, better target preparatory strategies, and allocate limited resources to those most in need.

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.

PURPOSE: It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases. METHODS: Novel methodology was developed using a carefully constructed set of diagnostic codes, a selection of rare disease cohorts from hospital administrative data, and advanced data-linkage technologies. Outcomes included health-service use and hospital admission costs. RESULTS: In 2010, cohort members who were alive represented approximately 2.0% of the Western Australian population. The cohort accounted for 4.6% of people discharged from hospital and 9.9% of hospital discharges, and it had a greater average length of stay than the general population. The total cost of hospital discharges for the cohort represented 10.5% of 2010 state inpatient hospital costs. CONCLUSIONS: This population-based cohort study provides strong new evidence of a marked disparity between the proportion of the population with rare diseases and their combined health-system costs. The methodology will inform future rare-disease studies, and the evidence will guide government strategies for managing the service needs of people living with rare diseases.Genet Med advance online publication 22 September 2016.