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Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

BackgroundThe impact of Aspergillus on lung disease in young children with cystic fibrosis is uncertain.AimsTo determine if positive respiratory cultures of Aspergillus species are associated with: (1) increased structural lung injury at age 5 years; (2) accelerated lung function decline between ages 5 years and 14 years and (3) to identify explanatory variables.MethodsA cross-sectional analysis of association between Aspergillus positive bronchoalveolar lavage (BAL) cultures and chest high-resolution CT (HRCT) scan findings at age 5 years in subjects from the Australasian Cystic Fibrosis Bronchoalveolar Lavage (ACFBAL) study was performed. A non-linear mixed-effects disease progression model was developed using FEV1% predicted measurements at age 5 years from the ACFBAL study and at ages 6–14 years for these subjects from the Australian Cystic Fibrosis Data Registry.ResultsPositive Aspergillus BAL cultures at age 5 years were significantly associated with increased HRCT scores for air trapping (OR 5.53, 95% CI 2.35 to 10.82). However, positive Aspergillus cultures were not associated with either FEV1% predicted at age 5 years or FEV1% predicted by age following adjustment for body mass index z-score and hospitalisation secondary to pulmonary exacerbations. Lung function demonstrated a non-linear decline in this population.ConclusionIn children with cystic fibrosis, positive Aspergillus BAL cultures at age 5 years were associated contemporaneously with air trapping but not bronchiectasis. However, no association was observed between positive Aspergillus BAL cultures on FEV1% predicted at age 5 years or with lung function decline between ages 5 years and 14 years.

Objectives: To critically examine the economic evidence regarding cystic fibrosis (CF) carrier screening and to understand issues relating to the transferability of international findings to any national context for policy decisions. Methods: A systematic literature search identified 14 studies (out of 29 economic studies on CF) focusing on preconception or prenatal screening between 1990 and 2006. These studies were then assessed against international benchmarks on conducting and reporting of economic evaluations, costing methodology used and focusing on the transferability of the evidence to national contexts. Results: The primary outcome measures varied considerably between studies and there was considerable ambiguity and variation on how costs were estimated. The Incremental Cost Effectiveness Ratio (ICER) and net savings, for preconception and prenatal screening were inconsistent and varied significantly, even after adjusting for timing and exchange rates. Differences in screening participation rates, reproductive choices, test sensitivity, cost of test and lifetime cost of care make up a large part of the ICER variations. Conclusion: The heterogeneity in study design, model inputs and reporting of economic evaluations of CF carrier screening makes comparability and transferability across countries and even within countries difficult. This reinforces the need to assess any technology within the relevant context, and to not simply generalize from reported studies. In turn, this adds to the complex task of making efficient resource allocation decisions in the area of CF carrier screening. Our evaluation adds weight to the calls for revisiting the way economic studies are conducted and reported. © 2007 Elsevier Ireland Ltd. All rights reserved.

Newborn screening (NBS) for cystic fibrosis (CF) has been carried out in Victoria, Australia since 1989. The primary screen is immunoreactive trypsinogen (IRT) followed by DeltaF508 mutation analysis. As part of this process, carrier babies are detected and their parents are routinely offered carrier testing as part of their follow up. The DeltaF508 parent is identified and the other parent has an extended mutation analysis performed in case they are also a carrier. One of the mutations in the extended analysis is R117H which is associated with a broad phenotypic range, from CF with suppurative lung disease, to no clinical disease. We present four healthy DeltaF508 carrier babies identified by our NBS service with both parents identified as carriers, one DeltaF508 and the other R117H. Owing to the variable phenotype associated with R117H we have developed an approach to this difficult genetic counselling situation. Centres offering or considering NBS for CF will need an approach to this problem.

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A suite of science instruments is critical to any high contrast imaging facility, as it defines the science capabilities and observing modes available. SCExAO uses a modular approach which allows for state-of-the-art visitor modules to be tested within an observatory environment on an 8-m class telescope. This allows for rapid prototyping of new and innovative imaging techniques that otherwise take much longer in traditional instrument design. With the aim of maturing science modules for an advanced high contrast imager on an giant segmented mirror telescopes (GSMTs) that will be capable of imaging terrestrial planets, we offer an overview and status update on the various science modules currently under test within the SCExAO instrument., 11 pages, 3 figures, AO4ELTs4 conference