Susannah Maxwell

Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western Australia.

Introduction:  Since the early 1980s, prenatal screening using ultrasound and biochemical markers has been used to refine the risk of Down syndrome and other fetal anomalies prior to considering fetal karyotyping. The performance of prenatal screening is subject to ongoing monitoring in Western Australia. The collection of these data can also assist in the identification of any potential inequities of access to prenatal screening within the state‐wide programme.

Prenatal screening for Down syndrome in Australia: Costs and benefits of current and novel screening strategies

To analyse the cost‐effectiveness and performance of noninvasive prenatal testing (NIPT) for high‐risk pregnancies following first‐trimester screening compared with current practice.

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.

The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study

Background: It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing the impact of single gene and chromosomal disorders on hospital admissions of children and adolescents. Methods: Hospital admissions for patients aged 0–19 years between 2000 and 2006, with a single gene or chromosomal disorder, were extracted from the Western Australian Hospital Morbidity Data System using 296 diagnosis codes identified from the International Statistical Classification of Diseases, Tenth Revision, Australian Modification. Data extracted for each patient included the number, length and cost of all admissions. Results: Between 2000 and 2006, 14,197 admissions were identified for 3,271 patients aged 0–19 years with single gene and chromosomal disorders, representing 2.6% of admissions and 4.3% of total hospital costs in this age group. Patients with genetic disorders had more admissions and stayed longer in hospital than patients admitted for any reason. Specific disorders associated with a high demand on hospital services included cystic fibrosis, Down syndrome, osteogenesis imperfecta, thalassemia, and von Willebrand’s disease. Conclusions: Children and adolescents with single gene and chromosomal disorders placed higher demands on hospital services than other patients in their age group, but were responsible for a relatively small proportion of hospital admissions and costs. These data will enable informed planning of health care services for patients with single gene and chromosomal disorders in Western Australia.

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.

Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013

To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia (1980–2013).

The potential impact of NIPT as a second-tier screen on the outcomes of high-risk pregnancies with rare chromosomal abnormalities

To describe the potential impact of using noninvasive prenatal testing (NIPT) as a second‐tier test, on the diagnosis and outcomes of pregnancies identified as high risk through first trimester screening (FTS) in a cohort of real pregnancies.

Informing policy for the Australian context - Costs, outcomes and cost savings of prenatal carrier screening for cystic fibrosis

Aims:  To examine the costs, outcomes and cost savings of three models of prenatal cystic fibrosis (CF) carrier screening compared to no screening from a public health sector perspective.

Baseline investigations of folate status in Aboriginal and non-Aboriginal West Australians prior to the introduction of mandatory fortification

In September 2009, Australia implemented mandatory folic acid fortification of wheat flour for bread‐making to reduce the incidence of neural tube defects. Our study aimed to establish baseline folate status data in Aboriginal and non‐Aboriginal Western Australians.