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.

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.

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.

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.

The journey from traffic offender to severe road trauma victim: destiny or preventive opportunity?

BACKGROUND: Road trauma is a leading cause of death and injury in young people. Traffic offences are common, but their importance as a risk indicator for subsequent road trauma is unknown. This cohort study assessed whether severe road trauma could be predicted by a history of prior traffic offences. METHODOLOGY AND PRINCIPAL FINDINGS: Clinical data of all adult road trauma patients admitted to the Western Australia (WA) State Trauma Centre between 1998 and 2013 were linked to traffic offences records at the WA Department of Transport. The primary outcomes were alcohol exposure prior to road trauma, severe trauma (defined by Injury Severity Score >15), and intensive care admission (ICU) or death, analyzed by logistic regression. Traffic offences directly leading to the road trauma admissions were excluded. Of the 10,330 patients included (median age 34 years-old, 78% male), 1955 (18.9%) had alcohol-exposure before road trauma, 2415 (23.4%) had severe trauma, 1360 (13.2%) required ICU admission, and 267 (2.6%) died. Prior traffic offences were recorded in 6269 (60.7%) patients. The number of prior traffic offences was significantly associated with alcohol-related road trauma (odds ratio [OR] per offence 1.03, 95% confidence interval [CI] 1.02-1.05), severe trauma (OR 1.13, 95%CI 1.14-1.15), and ICU admission or death (OR 1.10, 95%CI 1.08-1.11). Drink-drinking, seat-belt, and use of handheld electronic device offences were specific offences strongly associated with road trauma leading to ICU admission or death--all in a 'dose-related' fashion. For those who recovered from road trauma after an ICU admission, there was a significant reduction in subsequent traffic offences (mean difference 1.8, 95%CI 1.5 to 2.0) and demerit points (mean difference 7.0, 95%CI 6.5 to 7.6) compared to before the trauma event. SIGNIFICANCE: Previous traffic offences were a significant risk factor for alcohol-related road trauma and severe road trauma leading to ICU admission or death.

Response to pandemic (H1N1) 2009 influenza in Australia - lessons from a State health department perspective.

This article reviews the lessons that can be learned by the health sector, in particular, and the public sector, more generally, from the governmental response to pandemic (H1N1) 2009 influenza A (pH1N1) in Australia during 2009. It covers the period from the emergence of the epidemic to the release of the vaccine, and describes a range of impacts on the Western Australian health system, the government sector and the community. There are three main themes considered from a State government agency perspective: how decisions were influenced by prior planning; how the decision making and communication processes were intimately linked; and the interdependent roles of States and the Commonwealth Government in national programs. We conclude that: (a) communications were generally effective, but need to be improved and better coordinated between the Australian Government, States and general practice; (b) decision making was appropriately flexible, but there needs to be better alignment with expert advice, and consideration of the need for a national disease control agency in Australia; and (c) national funding arrangements need to fit with the model of state-based service delivery and to support critical workforce needs for surge capacity, as well as stockpile and infrastructure requirements.

Delivery of preventive health services to Indigenous adults: response to a systems-oriented primary care quality improvement intervention.

OBJECTIVE: To describe changes in delivery of preventive services among adults in Aboriginal communities that occurred in association with a systems-oriented intervention. DESIGN, SETTING AND PARTICIPANTS: A quality improvement intervention with a 2-year follow-up was undertaken at 12 Aboriginal community health centres in the Northern Territory between January 2002 and December 2005. The study involved 360 well adults aged 16-49 years who had no known diagnosis of chronic disease. INTERVENTION: Two annual cycles of assessment, feedback workshops, action planning, and implementation of system changes. Assessment included a structured review of health service systems and an audit of clinical records. MAIN OUTCOME MEASURES: Adherence to guideline-scheduled preventive services including taking basic measurements, laboratory investigations, lifestyle counselling and pneumococcal vaccination. RESULTS: Of 12 preventive services measured, delivery of four services showed improvement over the study period: counselling on diet increased from 3% to 8% (P = 0.018); counselling on physical activity from 2% to 8% (P = 0.006); counselling on smoking from 2% to 11% (P = 0.003); and counselling on alcohol from 2% to 10% (P = 0.007). There was no improvement in important measures such as monitoring of waist circumference, blood pressure and blood glucose level, and delivery of pneumococcal vaccination. CONCLUSION: Our systems-oriented intervention was associated with some improvement in counselling activities, but no significant improvement in delivery of other preventive services. The main reason may be that implementation focused more on chronic illness management than preventive services for generally well adults.