Caron Molster

Australian Study on Public Knowledge of Human Genetics and Health

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.

Blueprint for a deliberative public forum on biobanking policy: Were theoretical principles achievable in practice?

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.

Perceptions of Population Cystic Fibrosis Prenatal and Preconception Carrier Screening Among Individuals with Cystic Fibrosis and Their Family Members

AIM 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. METHOD 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. RESULTS 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. CONCLUSION 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.

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

BackgroundCalls 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.MethodsThe 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.ResultsAll 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.ConclusionsThese 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.

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

‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

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.

An Australian approach to the policy translation of deliberated citizen perspectives on biobanking

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.

Community attitudes to the collection and use of identifiable data for health research – is it an invasion of privacy?

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.

Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: Effects on health service use and lifestyle benefits

BackgroundPeople 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).MethodsIndividuals 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.ResultsThirty 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.ConclusionsHome 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.

Current trends in biobanking for rare diseases: a review

License. The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. Permissions beyond the scope of the License are administered by Dove Medical Press Limited. Information on how to request permission may be found at: http://www.dovepress.com/permissions.php Journal of Biorepository Science for Applied Medicine 2014:2 49–61 Journal of Biorepository Science for Applied Medicine Dovepress