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BackgroundPeople living with rare diseases face complex medical needs as well as a range of non-medical care needs. However, there is limited research on the experiences of care coordination for those living with a range of rare conditions. The paper addresses a research gap by capturing the views of both parents of children living with RD and adults living with rare diseases, and also explores some factors affecting people living in regional areas.Three focus groups were conducted with a total of sixteen participants who were adults living with a rare disease (and one carer) and parents of children living with rare diseases in Western Australia. Results were analysed using Braun and Clarke’s thematic analysis. ResultsThe study revealed that the participants in our study who were living with a rare disease (or their carers) (1) have complex care needs and a need to access multiple systems (2) have mixed experiences of care coordination (3) often go above and beyond to self-coordinate their care; and they (4) recognise opportunities for more systematic care coordination.ConclusionOur study has highlighted the complexity of care needs for many people living with a rare disease and the need for care coordination both within and across medical and non-medical domains. In exploring opportunities to provide more systematic care coordination, consideration should be given to European models of Centres of Expertise for Rare Diseases as well as complementary Resource Centres. Consideration of both models will help ensure patients receive holistic, well-integrated medical and non-medical care.

Background/Aims: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public perspectives on the acceptability of this approach. Methods: A one-day deliberative public forum was held in Perth, WA, Australia. Thirty randomly selected individuals were recruited, with self-reported sociodemographic characteristics used to obtain discursive representation. Participants were presented with information from a variety of perspectives and asked to discuss the information provided to identify points of consensus and disagreement. The data collected were analysed using thematic analysis. Results: Of the 17 participants at the forum, 16 deemed universal screening of children for FH to be acceptable. Fifteen of these 16 believed this was best performed at the time of an immunisation. Participants proposed a number of conditions that should be met to reduce the likelihood of unintended harm resulting from the screening process. Discussion/Conclusion: The outcomes of the forum suggest that establishing a universal screening programme for FH in childhood is acceptable to the general public in WA.

BackgroundPreconception carrier screening (PCS) provides the potential to empower couples to make reproductive choices before having an affected child. An important question is what factors influence the decision to use or not use PCS.MethodsWe analysed the relationship between knowledge, attitudes and intentions to participate in PCS using logistic regression in 832 participants in Western Australia.ResultsTwo-thirds of participants said they would take the test, with 92% of these supporting screening for diseases reducing the lifespan of children and infants. Those who had good genetic knowledge were seven times more likely to intend to use PCS (p≤0.001), while those with high genetic knowledge were four times more likely to (p=0.002) and raised concerns such as insurance and confidentiality.Decreasing genetic knowledge correlated positively with religiosity and apprehension (p≤0.001), which correlated negatively with intention to use PCS (p≤0.001). Increasing genetic knowledge correlated positively with factors representing positive attitudes (p≤0.001), which correlated positively with intention to use PCS (p≤0.001). Many participants with good genetic knowledge nevertheless answered questions that tested understanding incorrectly.80% of participants stated they would prefer to access the test through their general practitioners and 30% would pay up to $A200.ConclusionsKnowledge is instrumental in influencing participation. Having good genetic knowledge may not be enough to understand core concepts of PCS and may impact informed decision-making. This study recommends that continuous education of health professionals and thus the community, in PCS is crucial to reduce misconceptions.

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.

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.

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. Electronic supplementary material The online version of this article (doi:10.1186/s13023-017-0619-z) contains supplementary material, which is available to authorized users.

Background: Consideration of expanded carrier screening has become an emerging issue for governments. However traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs. Methods: In June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: 1) the provision of information from a range of perspectives and 2) small group deliberations on the key issues that governments need to consider and the benefits, risks and challenges of implementing publicly funded whole-population preconception carrier screening. Results: Forty-one international experts attended the workshop. The deliberations centered primarily on the conditions to be tested and the elements of the screening program itself. Participants expected only severe conditions to be screened but were concerned about the lack of a consensus definition of ‘severe’. Issues raised regarding the screening program included the purpose, benefits, harms, target population, program acceptability, components of a program and economic evaluation. Participants also made arguments for consideration of the accuracy of screening tests, however didn’t discuss possible interventions that may be required for people identified as carriers. Conclusions: A wide range of issues require careful consideration by governments that want to assess expanded carrier screening. Traditional criteria for government decision-making regarding screening programs are not a ‘best fit’ for expanded carrier screening and new models of decision-making with appropriate criteria are required. There is a need to define what a ‘severe’ condition is, to build evidence regarding the reliability and accuracy of screening tests, to consider the equitable availability and downstream effects on and costs of follow-up interventions for those identified as carriers, and to explore the ways in which the components of a screening program would be impacted by unique features of expanded carrier screening.

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.

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’.

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.

There is a growing concern in the ethics literature and among policy makers that de-identification or coding of personal data and biospecimens is not sufficient for protecting research subjects from privacy invasions and possible breaches of confidentiality due to the possibility of unauthorized re-identification. At the same time, there is a need in medical science to be able to identify individual patients. In particular for rare disease research there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. In this article, we identify the needs and arguments related to de-identification and re-identification of patients and research subjects and suggest how the different needs may be balanced within a framework of using unique encrypted identifiers. Funding for this research was received by the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444 (RD-Connect) and 305121 (Neuromics). Hansson also received funding by the Innovative Medicines Initiative project BT-Cure (grant agreement number 115142-1), the BioBanking and Molecular Resource Infrastructure of Sweden project (financed by the Swedish Research Council), and the European Union Seventh Framework Programmes Euro-TEAM, BiobankCloud and BBMRI-LPC. Dawkins acknowledges support-in-part from the Australian National Health and Medical Research Council RD-Connect project APP1055319 under the NHMRC–European Union Collaborative Research Grants scheme. Sí

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

Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.

Background: Deliberative public engagement is recommended for policy development in contested ethical areas. Scholars provide little guidance on how deliberative outputs can be translated to policy. This paper describes the processes we undertook to design a deliberative public forum for citizens to develop recommendations on biobanking that were adopted as health policy. Method: The 4-day forum, held in 2008 in Perth, Western Australia, was designed in collaboration with academic experts. Deliberant recommendations were recorded in a formal report presented to policy-makers. Deliberations were audio-taped and transcribed. Translation involved transcript analyses, comparison of recommendations to other stakeholder views and post-forum consultations. Results: Sixteen citizens made recommendations on ethical, legal and social issues related to biobanking. Most recommendations were translated into biobanking guidelines, with which Western Australia government health agencies must comply. The value of deliberative public participation in policy-making was most evident when trade-offs in competing interests, hopes and concerns were required. Translation issues included the impact of a small number of participants with limited socio-demographic diversity on procedural and policy legitimacy. Conclusions: Assessing the sufficiency of diversity in citizen representation was central to the deliberation-to-translation process. Institutional context facilitated the uptake of deliberation and translation processes. The use of these processes influenced policy substance and credibility among stakeholders and contributed to the state government directive that policy compliance be mandatory. We urge others to publish deliberation-to-translation processes so that best-practices may be identified.

Background: Public deliberation is recommended for obtaining citizen input to policy development when policies involve contested ethical dimensions, diverse perspectives on how to trade-off competing public interests and low public awareness of these perspectives. Several norms have been proposed for the design of deliberative methods. Evidence is scarce regarding whether such norms are achievable in practice. Purpose: This paper refers to principles of deliberative democracy theory to describe a deliberative public forum on biobanking. Practical challenges and contextual facilitators of achieving deliberative ideals are discussed, along with factors that influenced use of the forum output in policy development. Method: The forum ran for 4 days over two weekends in Perth, Western Australia. Key methodological features were socio-demographic stratification to randomly recruit a mini-public of citizens for discursive representation, provision of information inclusive of diverse perspectives and framed for difference, provision of a fair way for reasoning and collective decision making and adoption of processes to achieve publicity, accountability and independence from undue institutional influence. Results: Most design principles were achieved in practice, with the fundamental exception of representativeness. Factors influencing these outcomes, and the use of deliberated outputs to develop policy, included institutional characteristics, the design involvement of deliberative experts and quality of the outputs when compared to other consultation methods. Conclusions: Public deliberations can achieve design ideals and influence (ethics-based) public health policy. The representation of ‘hard to reach’ citizens and their views needs further consideration, particularly as this relates to the procedural legitimacy of ethical analyses and the just inclusion of deliberative citizen advice within the broader policy-making process.

Issues addressed: In the genomics era the use of valid and reliable tools for the collection of family health histories is proposed as a strategy for identifying those at higher risk of chronic disease and increasing the adoption of risk-modifying behaviours. This study investigated the impact of a collection tool for a Family Health History Program in Western Australia upon uptake of key health messages and intentions to adopt risk-reducing behaviours for chronic diseases. Methods: Initially a baseline population survey (n=1009) was undertaken to assess the collection of family health histories among adults and identify target populations for the tool. A targeted intercept survey (n=606) was then conducted with women to assess the tool. Results: Around half the respondents indicated they were motivated to adopt one or more risk-reducing behaviours as a result of their exposure to the tool. The odds of being motivated to do something related to family health history were significantly greater for women who liked the tool (AdjOR=3.1, 95%CI 2.1-4.5 ), thought it conveyed useful information (AdjOR=5.0, 95%CI 2.6-9.6), perceived family history to be more important than before they read the tool (AdjOR=3.4, 95%CI 2.3-4.9) and had not previously collected family health history information (AdjOR=1.8, 95%CI 1.1-3.0). Conclusion: At a whole-of-population level most adults consider family health history important, but few have actually recorded this information. The tool raised awareness of the importance of family health histories to personal health and was considered personally useful by most respondents.

Aims: This study was designed to obtain data on public understanding of genetic concepts in the adult population of Western Australia. It explored knowledge of genetic risk of disease, inheritance, biology, determinism, and factors that predict relatively higher genetic knowledge within the general population. Method: A cross-sectional telephone survey of 1,009 respondents. Results: Most members of the Western Australian community are aware of basic genetic concepts and the link between genes, inheritance, and risk of disease. Significantly fewer understand the biological mechanisms underlying these concepts and there was some misconception around the meaning of ‘increased genetic risk’. The odds of higher genetic knowledge (>19 out of 24 questions correct) were greater among those with 12 years or more education (OR = 3.0), those aged 18–44 years (OR = 2.3), women (OR = 2.0), those with annual household income of AUD 80,000 or more (OR = 1.8), and those who had talked with someone (OR = 1.7) or searched the internet (OR = 1.6) for information on genes and health. Conclusions: This study provides evidence of an association between social location and public knowledge of human genetic concepts related to health and disease. This is consistent with previous findings and raises questions about the acquisition of textbook genetics knowledge within socio-cultural contexts. The impact of misconceptions about genetic concepts on the uptake of preventive health behaviors requires further investigation, as does the level of genetics knowledge that is required to empower informed participation in individual and societal decisions about genetics and health.

Background Few studies have examined whether the healthcare needs of people living with rare diseases are being met. This study explores the experiences of Australian adults living with rare diseases in relation to diagnosis, information provision at the time of diagnosis, use of health and support services and involvement in research on their condition. Methods The survey respondents are self-selected from the population of Australian residents aged 18 years and over who are living with a rare disease. An online survey was implemented between July-August 2014. Purposive snowballing sampling was used. The results are reported as percentages with significant differences between sub-groups assessed using chi-squared analyses. Results Eight hundred ten responses were obtained from adults living with a rare disease. 92.1 % had a confirmed diagnosis, of which 30.0 % waited five or more years for a diagnosis, 66.2 % had seen three or more doctors to get a diagnosis and 45.9 % had received at least one incorrect diagnosis. Almost three quarters (72.1 %) received no or not enough information at the time of diagnosis. In the 12 months prior to the survey, over 80 % of respondents had used the services of a general practitioner and a medical specialist while around a third had been inpatients at a hospital or had visited an emergency department. Only 15.4 % of respondents had ever used paediatric services, 52.8 % of these had experienced problems in the transition from paediatric to adult services. Only 20.3 % knew of a patient registry for their condition and 24.8 % were informed of clinical trials. Conclusions These findings suggest that not all healthcare needs of people living with rare diseases are being met. Structural changes to Australian healthcare systems may be required to improve the integration and coordination of diagnosis and care. Health professionals may need greater awareness of rare diseases to improve the diagnostic process and support to meet the information requirements of people newly diagnosed with rare diseases. Health service use is likely higher than for the general population and further epidemiological studies are needed on the impact of rare diseases on the healthcare system.

Background People with neuromuscular disorders (NMD) exhibit weak coughs and are susceptible to recurrent chest infections and acute respiratory complications, the most frequent reasons for their unplanned hospital admissions. Mechanical insufflation-exsufflation (MI-E) devices are a non-invasive method of increasing peak cough flow, improving cough efficacy, the clearance of secretion and overcoming atelectasis. There is limited published evidence on the impact of home use MI-E devices on health service utilisation. The aims of the study were: to assess the self-reported health and lifestyle benefits experienced as a result of home use of MI-E devices; and evaluate the effects of in-home use of MI-E devices on Emergency Department (ED) presentations, hospital admissions and inpatient length of stay (LOS). Methods Individuals with NMD who were accessing a home MI-E device provided through Muscular Dystrophy Western Australia were invited to participate in a quantitative survey to obtain information on their experiences and self-assessed changes in respiratory health. An ad-hoc record linkage was performed to extract hospital, ED and mortality data from the Western Australian Department of Health (DOHWA). The main outcome measures were ED presentations, hospital separations and LOS, before and after commencement of home use of an MI-E device. Results Thirty seven individuals with NMD using a MI-E device at home consented to participate in this study. The majority (73%) of participants reported using the MI-E device daily or weekly at home without medical assistance and 32% had used the machine to resolve a choking episode. The survey highlighted benefits to respiratory function maintenance and the ability to manage increased health care needs at home. Not using a home MI-E device was associated with an increased risk of ED presentations (RR = 1.76, 95% CI 1.1-2.84). The number of hospital separations and LOS reduced after the use of MI-E device, but not significantly. No deaths were observed in participants using the MI-E device at home. Conclusions Home use of a MI-E device by people living with NMD may have a potential impact on reducing their health service utilisation and risk of death. Future research with greater subject numbers and longer follow-up periods is recommended to enhance this field of study. Electronic supplementary material The online version of this article (doi:10.1186/s13023-015-0267-0) contains supplementary material, which is available to authorized users.

Rare diseases (RD) refer to a collection of approximately 5,000–8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-threatening, degenerative and affecting different organ systems. The burden of RD is often exacerbated by a lack of specific treatments. Whilst there is etiological heterogeneity, there is overlap in cellular and molecular pathways. Amongst specialists, there is legitimate hope that based on genetic knowledge and pathway definition, a new medical classification system, currently called “precision medicine”, will be developed, which may change our view on how to apply shared therapeutic targets. Thus, collection of clinical and genetic data and biospecimens (in biobanks) will play an increasing role in diagnoses and development of therapies for RD. Biobanks are maintained collaboratively by researchers or their institutions, and involve a delicate balance between health policy objectives, academic research, public good outcomes, and community trust. Due to the nature of RD, international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. Here we review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD. The authors acknowledge the financial support of the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement numbers 305444 (RD-Connect), 305608 (EURenOmics), and 305121 (NeurOmics); TREAT-NMD operating grants, FP6 LSHM-CT-2006-036825, 20123307 UNEW_FY2013; Telethon grant GTB12001 to TNGB, and AFM 16104; EUROPLAN 2012–2015, coordinated by Italian National Institute of Health-Italian National Centre for Rare Diseases, included in the EUCERD Joint Action (grant number 2011 22 01, cofunded by the European Union Commission (DG-SANCO); Office of Rare Diseases Research at National Center for Advancing Translational Sciences/National Institutes of Health; European Organisation for Rare Diseases; Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-ERIC); ISBER/ESBB Rare Diseases Working Group; and Public Population Project in Genomics and Society (P3G). Sí

Deliberative public engagement has been proposed for policy development, where issues are complex and there are diverse public perspectives and low awareness of competing issues. Scholars suggest a range of potential outcomes for citizens and government agencies from involvement in such processes. Few studies have examined outcomes from the perspective of citizen participants in deliberative processes.To examine participant perceptions of their involvement in and outcomes of a deliberative engagement exercise.A case study using semistructured interviews was conducted with participants following a deliberative forum on biobanking.From their involvement in the deliberative exercise, participants described transformations in their knowledge and beliefs about the policy issues. They reported being more informed to the extent of having confidence to educate others and effectively contribute to public policy development. They had developed greater trust in government policymakers who they believed would take reasonable account of their recommendations.We conclude that the participants were satisfied with the outcomes of the deliberative public engagement process and viewed it as an effective means of citizen involvement in public policy development. Particularly for citizens who participate in deliberative processes, such processes may promote active citizenship, empower citizens to undertake representative and educative roles, and improve relations between citizens and government agencies. Actions taken by policymakers subsequent to the deliberative exercise, whereby the majority of citizen recommendations were incorporated in the policy developed, may have contributed to participants holding sustained levels of trust in the commissioning government agency.

In recent years the institutionalisation of ethics as a means of enhancing the ethical nature of business operations has received widespread empirical coverage. To date, however, few studies have been conducted in the Australian business context. This paper examines the institutionalisation of ethics by a sample of companies based in Perth, Western Australia. In particular, company representatives were asked if their company was institutionalising ethics, why this initiative was undertaken, how this was taking place and what specific issues were being addressed in the institutionalisation process. The results suggest that perceptions of external parties were the primary motivation for ethics institutionalisation efforts although there was also considerable focus on trying to internalise ethical values. In terms of how ethics were being institutionalised the responding companies were more likely to have conducted ethics training programs than to have written Codes of Conduct and in general it appears that few companies were developing comprehensive formal ethics programs. The primary issue covered by these institutionalisation efforts was the observance of laws.

Business ethics has emerged in recent years as a field of significant scholarly endeavour. Particularly well documented is the existence of ethical conflict at work and the reported inseparability of business decisions and moral consequences. However, to date, the majority of studies have been conducted in the American business context.

Our study aimed to quantitatively explore the perceptions of individuals with cystic fibrosis (CF) and their family members toward population prenatal and preconception CF carrier screening, including perceived benefits, concerns, and the acceptability of offering screening.In November 2009, 258 members of the Cystic Fibrosis Association of Western Australia were invited via an e-mail newsletter to participate in a survey, with a link to an online survey tool. A further 246 members without e-mail access were mailed a paper copy of the survey.Overall, we found the majority of individuals with CF (n=27) and their families (n=122) had positive views of population CF carrier screening. However, the small number of individuals with CF represented in the study limits the interpretation of these data.From a public policy perspective, our findings overall suggest that in principle the views of family members are not a barrier to the introduction of population CF carrier screening. The views of individuals with CF warrant further investigation. Data such as ours should be used with other sources of information, such as economic evaluations and the perceptions of the general public, geneticists, and other medical practitioners to inform decisions regarding screening within the public health system.

To explore the views of the Western Australian community on cascade screening for familial hypercholesterolemia (FH), focusing on the desire of relatives to be informed about a familial risk, the acceptability of being informed by family or by health professionals, and preferences around how this information is shared.A cross-sectional computer assisted telephone interviewing (CATI) survey was employed, and 430 respondents were recruited randomly from the electronic version of the Western Australian telephone directory.Interviews were conducted in June 2008 and had a response rate of 75%. Most respondents (93%) indicated a desire to be informed about their familial risk of FH. Of these, 91% desired to be informed by their relative, 77% by the health clinic involved in the FH screening program, and 95% indicated a desire to be offered screening for the condition. Women aged 18-54 years were more likely to report a preference for being informed by their relative. The odds of reporting a high likelihood of attending the program health clinic for testing were significantly lower among men aged 18-54 years. If contacted by the program health clinic, 1 in 3 respondents found it unacceptable to not be told their relative's name.This study provides evidence of community support for FH cascade screening programs that adopt a policy of "direct contact," where program staff contact the relatives of the index cases and inform them of their familial risk. Maximizing community support for the screening program may require that index cases give consent to include their personal details when the initial contact is made with their relatives. It may also require special consideration of how younger members of the community are contacted and encouraged to participate in the screening programs.

Objectives: To investigate community views on the statutory collection of identifiable data by the Western Australian Birth Defects Registry and the extent to which the use of such data is perceived to be an invasion of privacy, when balanced against the community benefit of three public health scenarios. Methods: Cross-sectional, computer-assisted telephone interviewing survey. Six hundred respondents were recruited randomly from the electronic version of the Western Australian telephone directory. Results: Interviews were conducted in August 2006 and the response rate was 78%. Most respondents indicated support for statutory notification of cases (79%) and did not consider the statutory notification of postcodes (85%) and names and addresses (65%) to be an invasion of privacy. Similarly, most (76%) did not consider the receipt of a letter requesting participation in research to be an invasion of privacy. Overall, 55% considered none of these to be an invasion of privacy and only 4% considered all to be an invasion of privacy. Conclusions: Most Western Australians do not consider the statutory inclusion and use of identifiable data by the WA Birth Defects Registry to be an invasion of privacy, to the extent that such data are required for legitimate public health research, would be notified by the registrant's medical practitioner and would be kept confidentially and securely.

BACKGROUND: In response to the proposal that mandatory fortification be introduced in Australia to reduce the incidence of NTDs, the purpose of this study was to establish, for the adult community, baseline data on knowledge, attitudes, and behaviors towards the fortification of foods with folic acid. METHODS: A cross-sectional, Computer Assisted Telephone Interviewing survey with respondents recruited randomly from the electronic version of the Western Australian telephone directory was used. One thousand members of the community aged 18 years or older were interviewed for the study. RESULTS: Interviews were conducted in September 2006, with a response rate of 76%. Half the respondents were aware folate is currently added to some breakfast cereals (59%) and some breads (53%), but awareness of other food types that may be voluntarily fortified with folate was much lower. Only 13% of respondents were concerned about folate being added to bread, 10% believed folate should not be added to foods, and 9% said they would avoid foods with added folate. Generally, around half the respondents were uncertain about the benefits of fortifying foods with folate and around a quarter were uncertain about any risks or concerns with this practice. CONCLUSIONS: The community appears no more concerned about the fortification of bread with folate than they are about other existing fortification programs in Australia, and appear more likely to support rather than oppose the fortification of foods with folate, particularly if they are informed of the benefits of such a program. Birth Defects Research (Part A) 2007. © 2007 Wiley-Liss, Inc.

Graham CE, Molster C, Baynam GS, et al. Journal of Biorepository Science for Applied Medicine. 2014;2:49–61.Author Deborah Mascalzoni from the Centre for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden, was erroneously left off the author list, please see the correct list here.Caroline E GrahamCaron MolsterGareth S BaynamKate BushbyMats HanssonDeborah MascalzoniAnna KoleMarina MoraLucia MonacoMatthew BellgardDavid CarpentieriManuel PosadaOlaf RiessYaffa R RubinsteinFranz SchaeferDomenica TaruscioSharon F TerryKurt ZatloukalBartha KnoppersHanns LochmüllerHugh JS Dawkins Read the original article

Background Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress such a plan an inaugural Australian Rare Diseases Symposium was held in Western Australia in April 2011. This paper describes the key issues identified by symposium attendees for the development of a national plan, compares these to the content of EUROPLAN and national plans elsewhere and discusses how the outcomes might be integrated for national planning. Methods The symposium was comprised of a series of plenary sessions followed by workshops. The topics covered were; 1) Development of national plans for rare diseases; 2) Patient empowerment; 3) Patient care, support and management; 4) Research and translation; 5) Networks, partnerships and collaboration. All stakeholders within the rare diseases community were invited to participate, including: people affected by rare diseases such as patients, carers, and families; clinicians and allied health practitioners; social and disability services; researchers; patient support groups; industry (e.g. pharmaceutical, biotechnology and medical device companies); regulators and policy-makers. Results All of these stakeholder groups were represented at the symposium. Workshop participants indicated the need for a national plan, a national peak body, a standard definition of ‘rare diseases’, education campaigns, lobbying of government, research infrastructure, streamlined whole-of-lifetime service provision, case co-ordination, early diagnosis, support for health professionals and dedicated funding. Conclusions These findings are consistent with frameworks and initiatives being undertaken internationally (such as EUROPLAN), and with national plans in other countries. This implies that the development of an Australian national plan could plausibly draw on frameworks for plan development that have been proposed for use in other jurisdictions. The translation of the symposium outcomes to government policy (i.e. a national plan) requires the consideration of several factors such as the under-representation of some stakeholder groups (e.g. clinicians) and the current lack of evidence required to translate some of the symposium outcomes to policy options. The acquisition of evidence provides a necessary first step in a comprehensive planning approach.

Western Australia recently hosted Australia's inaugural national rare disease symposium, entitled Awakening Australia to Rare Diseases: Global perspectives on establishing a coordinated approach to a national plan (www.raredisease.com.au) in the port city of Fremantle, Western Australia from the 17th-20th of April 2011.

The paper analyses results from a questionnaire-based survey of “ethical behavior” of members of the Western Australian Senior Executive Service. Relating to definitions of deontology (duty) and teleology (ends over means) the study examines the validity of three hypotheses on ethical behaviour/decision making frameworks. Longitudinal data is related to the 1983–90WA Inc period. The study establishes that SES managers apply ethical frameworks in order to understand the meaning of: “ethical behaviour” and that there are groups of managers with distinct understandings of what constitutes ethical behavior which is reflective of particular ethics theories. Three groups of managers are identified: (1) emphasises teleology (2) focuses on external influences (rules, standards and codes) and (3) encompasses both teleology and external influences and, to a lesser extent deontology. Only this latter group is regarded as having an appropriate repertoire of potential responses to any given ethical dilemma. There is no support for the view that those beginning employment in the public service post 1984 adversely affected the ethical decision making frameworks of other senior managers.

Background The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km2. Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health. Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care. Results Briefly the platform : i) offers multiple options including non-genetic testing; monogenic and genomic (targeted in silico filtered and whole exome) analysis; and matchmaking; ii) is delivered in a patient-centric manner that is resonant with the patient journey, it has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; iii) is synchronous with precision phenotyping methods; iv) captures new knowledge, including multiple expert review; v) is integrated with current translational genomic research activities and best practice; and vi) is designed for flexibility for interactive generation of, and integration with, clinical research for diagnostics, community engagement, policy and models of care. Conclusion The RUDDS has been established as part of routine clinical genetic services and is thus sustainable, equitably managed and seeks to translate new knowledge into efficient diagnostics and improved health for the whole community.