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The article discusses the growing utilization of Plasma-Derived Medicinal Products (PDMPs) and the importance of ensuring the safety of plasma donors. It critiques two studies that concluded that repeated plasmapheresis (plasma donation) is safe for donors, pointing out methodological shortcomings and selection biases in the studies. The authors argue that more robust evidence, such as randomized controlled trials (RCTs) and real-world data analysis, is needed to determine the long-term impact of repeated plasmapheresis on donor health. They emphasize the need for trustworthy evidence syntheses and transparent criteria for evaluating the quality of evidence. Until more conclusive evidence is available, blood establishments will continue to prioritize donor safety. [Extracted from the article]

Purpose: Whilst computed tomography (CT) imaging has been a vital component of injury management, its increasing use has raised concern regarding ionising radiation exposure. This study aims to identify latent classes (underlying patterns) of CT use over a 3-year period following the incidence of injury and factors predicting the observed patterns. Method: A retrospective observational cohort study was conducted in 21,544 individuals aged 18 + years presenting to emergency departments (ED) of four tertiary public hospitals with new injury in Western Australia. Mixture modelling approach was used to identify latent classes of CT use over a 3-year period post injury. Results: Amongst injured people with at least one CT scan, three latent classes of CT use were identified including a: temporarily high CT use (46.4%); consistently high CT use (2.6%); and low CT use class (51.1%). Being 65 + years or older, having 3 + comorbidities, history with 3 + hospitalisations and history of CT use before injury were associated with consistently high use of CT. Injury to the head, neck, thorax or abdomen, being admitted to hospital after the injury and arriving to ED by ambulance were predictors for the temporarily high use class. Living in areas of higher socio-economic disadvantage was a unique factor associated with the low CT use class. Conclusions: Instead of assuming a single pattern of CT use for all patients with injury, the advanced latent class modelling approach has provided more nuanced understanding of the underlying patterns of CT use that may be useful for developing targeted interventions. [ABSTRACT FROM AUTHOR]

Prenatal screening has evolved rapidly following the introduction of non‐invasive prenatal testing (NIPT), with screening now available for an increasing number of conditions. We explored the attitudes and expectations of women within the context of using NIPT to detect multiple different single gene and chromosome conditions during pregnancy. An online survey was used to assess these issues with a sample of 219 women from Western Australia. In our study, the majority of women (96%) support of the concept of expanded NIPT for single gene and chromosome conditions provided the test involves no risk to the pregnancy and can provide the parents with relevant medical information about the fetus at any stage of pregnancy. 80% believed that expanded NIPT for single gene and chromosome conditions should be available at any stage during pregnancy and 68% of women indicated that test cost would be a factor in determining their participation in testing. Under half (43%) of the women favored an option to terminate a pregnancy at any stage if the fetus had a medical condition that would interfere with day to day functioning. The majority (78%) of women believed that testing for multiple genetic conditions would provide reassurance and lead to the delivery of a healthy child. [ABSTRACT FROM AUTHOR]

At the symposium organized by the International Plasma and Fractionation Association and European Blood Alliance, experts presented their views and experiences showing that the public sector and its blood establishments may strengthen the collection and increase the supply of plasma using the right strategies in plasma donor recruitment, retention and protection, scaling‐up collection by increasing the number of donors within improved/new infrastructure, supportive funding, policies and legislation as well as harmonization of clinical guidelines and the collaboration of all stakeholders. Such approaches should contribute to increased plasma collection in Europe to meet patients' needs for plasma‐derived medicinal products, notably immunoglobulins and avoid shortages. Overall, presentations and discussions confirmed that European non‐profit transfusion institutions are committed to increasing the collection of plasma for fractionation from unpaid donors through dedicated programmes as well as novel strategies and research. [ABSTRACT FROM AUTHOR]

Background: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) has expanded from detecting chromosome aneuploidy to testing for a variety of genetic conditions, including some select single gene disorders. As next generation sequencing/whole exome sequencing technology develops, it may be possible to expand NIPT of cfDNA to identify hundreds of single gene and chromosomal disorders in a fetus, thereby increasing the complexity of pretest counselling and parental decision‐making. Aim: The aim of this study was to assess the views of women on the phenotypes of genetic conditions potentially detectable with expanded NIPT that they would consider severe enough to warrant pregnancy termination. Materials and Methods: Using multiple clinical scenarios, we asked women via an online survey about the early detection of several well‐described genetic phenotypes in pregnancy that in theory could be detected by expanded NIPT. Results: Two hundred and nineteen women participated in this study. There was high support for early diagnosis and the option for termination of pregnancy in conditions perceived as severe (52–71%). Women expressed a preference for testing to be provided by general practitioners and assigned a high value to genetic counselling support (75–90%). In the case of a continuing pregnancy, women recognised the essential role of ongoing psychosocial counselling for family members and childhood early intervention programs. Conclusion: Women expressed clear preferences for termination of pregnancy for severe conditions and as early in gestation as feasible. Information and support from genetic counsellors are a highly valued resource in decision‐making following a prenatal diagnosis of a fetal genetic abnormality. [ABSTRACT FROM AUTHOR]

(1) Background: Pulmonary embolism (PE) can be fatal. Computed tomography pulmonary angiography (CTPA) can accurately diagnose PE, but it should be used only when reasonable pre-test probability exists. Overtesting with CTPA exposes patients to excess ionizing radiation and contrast media, while PE overdiagnosis leads to the treatment of small emboli unlikely to cause harm. This study assessed trends in CTPA use and diagnostic yield. We also assessed trends in PE hospitalizations and mortality to indicate PE severity. (2) Methods: Analysis of Western Australian linked administrative data for 2003–2015 including hospitalizations, emergency department (ED) attendances, and CTPA performed at hospitals. Age-sex standardized trends were calculated for CTPA use, PE hospitalizations, and mortality (as a proxy for severity). Logistic regression assessed diagnostic yield of CTPA following unplanned ED presentations. (3) Results: CTPA use increased from 3.3 per 10,000 person-years in 2003 (95% CI 3.0–3.6) to 17.1 per 10,000 person-years (16.5–17.7) in 2015. Diagnostic yield of CTPA increased from 12.7% in 2003 to 17.4% in 2005, declining to 12.2% in 2015 (p = 0.049). PE hospitalizations increased from 3.8 per 10,000 (3.5–4.1) in 2003 to 5.2 per 10,000 (4.8–5.5) in 2015. Mortality remained constant at 0.50 per 10,000 (0.39–0.62) in 2003 and 0.42 per 10,000 (0.32–0.51) in 2015. (4) Conclusions: CTPA increased from 2003 to 2015, while diagnostic yield decreased, potentially indicating overtesting. PE mortality remained constant despite increasing hospitalizations, likely indicating a higher proportion of less severe cases. As treatment can be harmful, this could represent overdiagnosis. [ABSTRACT FROM AUTHOR]

Background: This study investigated trends in computed tomography (CT) utilization across different triage categories of injury presentations to tertiary emergency departments (EDs) and associations with diagnostic yield measured by injury severity, hospitalization and length of stay (LOS), and mortality. Methods: A total of 411,155 injury‐related ED presentations extracted from linked records from Western Australia from 2004 to 2015 were included in the retrospective study. The use of CT scanning and diagnostic yield measured by rate of diagnosis with severe injury, hospitalizations and LOS, and mortality were captured annually for injury‐related ED presentations. Multivariable regression models were used to calculate the annual adjusted rate of CT scanning for injury presentations and hospitalizations across triage categories, diagnosis with severe injury, LOS, and mortality. The significance of changes observed was compared among patients with CT imaging relative to those without CT. Results: While the number of ED presentations with injury increased by 65% from 2004 to 2015, the use of CT scanning in these presentations increased by 176%. The largest increase in CT use was among ED presentations triaged as semi‐/nonurgent (+256%). Injury presentations with CT, compared to those without, had a higher rate of diagnosis with moderate/severe injury and hospitalization but no difference in LOS and mortality. The probability/rate observed in the outcomes of interest had a greater decrease over time in those with CT scanning compared with those without CT scanning across triage categories. Conclusions: The reduction in diagnostic yield in terms of injury severity and hospitalization found in our study might indicate a shift toward overtesting using CT in ED for injury or a higher use of CT to assist in the management of injuries. This helps health care policymakers consider whether the current increase in CT use meets the desired levels of quality and efficient care. [ABSTRACT FROM AUTHOR]

Background: Survival following colorectal cancer (CRC) survival may be influenced by a number of factors including family history, individual medical history, and comorbidities. The impact of these factors may vary based on the patient's age. Methods: The study cohort consisted of individuals born in Western Australia between 1945 and 1996, who had been diagnosed with CRC prior to 2015 (n = 3220). Hospital, cancer, and mortality data were extracted for each patient from state health records and were used to identify potential risk factors associated with CRC survival. Family linkage data, in combination with cancer registry data, were used to identify first-degree family members with a history of CRC. The association between survival following CRC diagnosis and identified risk factors was examined using Cox proportional hazard models. Results: Age and sex were not significantly associated with survival in young patients. However, in middle-aged patients increasing age (HR 1.03, 95% CI 1.01–1.05, p = 0.003) and being male (HR 0.72, 95% CI 0.60–0.87, p < 0.001) were associated with reduced survival. Being diagnosed with polyps and having a colonoscopy prior to CRC diagnosis were associated with improved survival in both young and middle-aged patients, while a history of non-CRC and liver disease was associated with reduced survival. In middle-aged patients, having diabetes-related hospital admissions (HR 1.53, 95% CI 1.15–2.03, p = 0.004) was associated with reduced survival. Conclusions: In both young and middle-aged patients with CRC, factors associated with early screening and detection were associated with increased CRC survival while a history of liver disease and non-CRC was associated with decreased CRC survival. [ABSTRACT FROM AUTHOR]

Objective: Organ radiation dose from a CT scan, calculated by CT dosimetry software, can be combined with cancer risk data to estimate cancer incidence resulting from CT exposure. We aim to determine to what extent the use of improved anatomical representation of the adult human body “phantom” in CT dosimetry software impacts estimates of radiation dose and cancer incidence, to inform comparison of past and future research. Methods: We collected 20 adult cases for each of three CT protocols (abdomen/pelvis, chest and head) from each of five public hospitals (random sample) (January-April inclusive 2010) and three private clinics (self-report). Organ equivalent and effective dose were calculated using both ImPACT (mathematical phantom) and NCICT (voxelised phantom) software. Bland-Altman plots demonstrate agreement and Passing-Bablok regression reports systematic, proportional or random differences between results. We modelled the estimated lifetime attributable risk of cancer from a single exposure for each protocol, using age-sex specific risk-coefficients from the Biologic Effects of Ionizing Radiation VII report. Results: For the majority of organs used in epidemiological studies of cancer incidence, the NCICT software (voxelised) provided higher dose estimates. Across the lifespan NCICT resulted in cancer estimates 2.9%-6.6% and 14.8%-16.3% higher in males and females (abdomen/pelvis) and 7.6%-19.7% and 12.9%-26.5% higher in males and females respectively (chest protocol). For the head protocol overall cancer estimates were lower for NCICT, but with greatest disparity, >30% at times. Conclusion: When the results of previous studies estimating CT dose and cancer incidence are compared to more recent, or future, studies the dosimetry software must be considered. Any change in radiation dose or cancer risk may be attributable to the software and phantom used, rather than—or in addition to—changes in scanning practice. Studies using dosimetry software to estimate radiation dose should describe software comprehensively to facilitate comparison with past and future research. [ABSTRACT FROM AUTHOR]

Abstract: Background and Aim: Individuals with Lynch syndrome (LS) are at increased risk of LS‐related cancers including colorectal cancer (CRC). CRC tumor screening for mismatch repair (MMR) deficiency is recommended in Australia to identify LS, although its cost‐effectiveness has not been assessed. We aim to determine the cost‐effectiveness of screening individuals with CRC for LS at different age‐at‐diagnosis thresholds. Methods: We developed a decision analysis model to estimate yield and costs of LS screening. Age‐specific probabilities of LS diagnosis were based on Australian data. Two CRC tumor screening pathways were assessed (MMR immunohistochemistry followed by MLH1 methylation (MLH1‐Pathway) or BRAF V600E testing (BRAF‐Pathway) if MLH1 expression was lost) for four age‐at‐diagnosis thresholds—screening < 50, screening < 60, screening < 70, and universal screening. Results: Per 1000 CRC cases, screening < 50 identified 5.2 LS cases and cost $A7041 per case detected in the MLH1‐Pathway. Screening < 60 increased detection by 1.5 cases for an incremental cost of $A25 177 per additional case detected. Screening < 70 detected 1.6 additional cases at an incremental cost of $A40 278 per additional case detected. Compared with screening < 70, universal screening detected no additional LS cases but cost $A158 724 extra. The BRAF‐Pathway identified the same number of LS cases for higher costs. Conclusions: The MLH1‐Pathway is more cost‐effective than BRAF‐Pathway for all age‐at‐diagnosis thresholds. MMR immunohistochemistry tumor screening in individuals diagnosed with CRC aged < 70 years resulted in higher LS case detection at a reasonable cost. Further research into the yield of LS screening in CRC patients ≥ 70 years is needed to determine if universal screening is justified. [ABSTRACT FROM AUTHOR]

In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women’s attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia. Women from each cohort demonstrated adequate knowledge of the differences between screening and diagnostic tests, but were mostly unaware of the conditions for which screening is currently available except Down syndrome. Women who had children with de novo genetic conditions were generally aware of more genetic conditions than women with or without healthy children. Most women recognised the genetic basis for the conditions mentioned. Two thirds of women understood that Down syndrome is a chromosomal condition; just one third recognised that the phenotype is variable. Most women expressed a positive attitude towards Down syndrome. Social acceptance of children with Down syndrome was commonly mentioned as a concern. While the majority of women with children supported screening for Down syndrome, they emphasised that it must be an autonomous choice. General knowledge of genetic conditions illustrated that women are exposed to diverse conditions from lived experience as well as the media. [ABSTRACT FROM AUTHOR]

Objective: Guidelines for thyroid function evaluation recommend testing TSH first, then assessing fT4 only if TSH is out of the reference range (two-step), but many clinicians initially request both TSH and fT4 (one-step). Given limitations of previous studies, we aimed to compare the two-step with the one-step approach in an unselected community-dwelling study population, and develop a prediction score based on clinical parameters that could identify at-risk patients for thyroid dysfunction. Design: Cross-sectional analysis of the population-based Busselton Health Study. Methods: We compared the two-step with the one-step approach, focusing on cases that would be missed by the two-step approach, i.e. those with normal TSH, but out-of-range fT4. We used likelihood ratio tests to identify demographic and clinical parameters associated with thyroid dysfunction and developed a clinical prediction score by using a beta-coefficient based scoring method. Results: Following the two-step approach, 93.0% of all 4471 participants had normal TSH and would not need further testing. The two-step approach would have missed 3.8% of all participants (169 of 4471) with a normal TSH, but a fT4 outside the reference range. In 85% (144 of 169) of these cases, fT4 fell within 2 pmol/l of fT4 reference range limits, consistent with healthy outliers. The clinical prediction score that performed best excluded only 22.5% of participants from TSH testing. Conclusion: The two-step approach may avoid measuring fT4 in as many as 93% of individuals with a very small risk of missing thyroid dysfunction. Our findings do not support the simultaneous initial measurement of both TSH and fT4. [ABSTRACT FROM AUTHOR]

Background Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. Aim To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Methods Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. Results The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Conclusion Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. [ABSTRACT FROM AUTHOR]

Background The TSH-T4 relationship was thought to be inverse log-linear, but recent cross-sectional studies of selected populations report a complex, nonlinear relationship. The TSH-T4 relationship has not been evaluated in an unselected, community-based cohort, and there are limited data regarding clinical factors which affect it. Objective To analyse the TSH-free T4 relationship in a community-based cohort. Design, participants and methods In a cross-sectional, retrospective study, we analysed serum TSH and free T4 concentrations from 4427 participants (55% female) in the 1994 Busselton Health Study who were not taking thyroxine. Simple linear, segmented-linear and nonlinear regression models of log10 TSH on free T4 were compared for goodness of fit. Results All 5 log TSH-free T4 models tested (separate lines, segmented conterminal line, quartic, error function, double-sigmoid curve) fitted significantly better than a simple linear model (each P < 0·01 by Vuong test). Ranking by Akaike information criterion indicated that the segmented conterminal line and double-sigmoid models provided best fit, followed by the error function, quartic and separate lines models. From multiple regression analysis, age tertile, current smoking and TPOAb status each significantly influenced the TSH-free T4 relationship, whereas BMI category and diabetes did not. A sex difference in the TSH-free T4 relationship was apparent only in the lower part of the free T4 reference range. Conclusion In a community-based setting, the relationship between log TSH and free T4 is complex, nonlinear and influenced by age, smoking and TPOAb status. [ABSTRACT FROM AUTHOR]

Breast-fed infants may depend solely on an adequate supply of iodine in breast milk for the synthesis of thyroid hormones which are essential for optimal growth and cognitive development. This is the first study to measure breast milk iodine concentration (BMIC) among lactating women in Western Australian (n = 55). Breast milk samples were collected between 2014 and 2015 at a mean (±SD) of 38.5 (±5.5) days post-partum. The samples were analysed to determine median BMIC and the percentage of samples with a BMIC < 100 µg/L, a level considered adequate for breast-fed infants. The influence of (a) iodine-containing supplements and iodised salt use and (b) consumption of key iodine-containing foods on BMIC was also examined. The median (p25, p75) BMIC was 167 (99, 248) µg/L and 26% of samples had a BMIC < 100 µg/L. Overall, BMIC tended to be higher with iodine-containing supplement usage (ratio 1.33, 95% confidence interval (CI) (1.04,1.70), p = 0.030), cow's milk consumption (ratio 1.66,95% CI (1.23,2.23), p = 0.002) and lower for Caucasians (ratio 0.61, 95% CI (0.45, 0.83), p = 0.002), and those with secondary school only education (ratio 0.66, 95% CI (0.46, 0.96), p = 0.030). For most women, BMIC was adequate to meet the iodine requirements of their breast-fed infants. However, some women may require the use of iodine-containing supplements or iodised salt to increase BMIC to adequate levels for optimal infant nutrition. [ABSTRACT FROM AUTHOR]

Background: The usefulness of inflammatory indices in assessment of the severity of acute diverticulitis remains unestablished. The aim of this study was to determine whether inflammatory indices and hematological ratios could be utilised to differentiate between uncomplicated and complicated diverticulitis. Methods: Hematological and inflammatory indices were recorded for each admission with CT confirmed acute diverticulitis (101 complicated, 127 uncomplicated). Cases were divided into training (n = 57) and test sets (n = 171). A classification and regression tree (CART) analysis was employed in the training set to identify optimal inflammatory marker cut-off points associated with complicated diverticulitis. Samples (test set) were then categorized as (A) greater than and (B) less than CART identified cut-off points. The predictive properties of inflammatory marker cut-off points in distinguishing severity of diverticulitis were assessed using a univariate logistic regression analysis, summary receiver operating characteristic curves and confusion matrix generation. Results: C-reactive protein >109 mg/ml (OR 3.07, 95% CI 1.43-6.61, p = 0.004, area under the curve; AUC = 0.64) and white cell lymphocyte ratio (WLR) >17.72 (OR 4.23, 95% CI 1.95-9.17, p < 0.001, AUC = 0.64) were the most accurate parameters in distinguishing complicated and uncomplicated disease. WCC >21 × 109 /l (p = 0.02, AUC = 0.60) and lymphocyte count >0.55 × 109 /l (p = 0.009, AUC = 0.60) were less accurate. Conclusion: Widely used inflammatory indices are useful in the depiction of complicated diverticulitis. The indices cut-off points highlighted in this study should be considered at the time of diagnosis in combination with radiological features of complicated diverticulitis. [ABSTRACT FROM AUTHOR]

Background Mandatory fortification of wheat flour for bread-making was introduced in Australia in September 2009, to assist in the prevention of neural tube defects ( NTD). NTD are twice as common in Aboriginal compared with non-Aboriginal infants, and folate levels are lower in the Aboriginal population. Aims This study was undertaken to compare folate status and NTD in the Aboriginal population before and after fortification. Methods Postfortification, 95 Aboriginal men and nonpregnant women aged 16-44 years in metropolitan and regional Western Australia (WA) completed a rapid dietary assessment tool and had blood taken to measure red cell folate. Measures were compared with prefortification values obtained in an earlier study using the same methods. Data on NTD in Aboriginal infants were obtained from the WA Register of Developmental Anomalies. Results No participant was folate deficient. The mean red cell folate increased after fortification to 443 ng/mL for males and 567 ng/mL for females. The mean difference between red cell folate after fortification compared with before was 129 ng/mL for males (95% CI 81-177); t = 5.4; P < 0.0001) and 186 ng/mL for females (95% CI 139-233); t = 7.9; P < 0.0001). Most participants ate fortified shop-bought bread at least weekly, resulting in an estimated additional folate intake per day of 178 (males) and 145 (females) dietary folate equivalents. NTD prevalence fell by 68% following fortification (prevalence ratio 0.32 (CI 0.15-0.69)). Conclusions The population health intervention of mandatory fortification of wheat flour for bread-making has had the desired effect of increasing folate status and reducing NTD in the Australian Aboriginal population. [ABSTRACT FROM AUTHOR]

Introduction: CIN2 has a high rate of spontaneous regression in young women and may be managed conservatively in appropriately selected patients. This study aimed to investigate health outcomes in women aged 18-24 years with biopsy-confirmed CIN2.Material and Methods: A retrospective cohort study of Western Australian women aged 18-24 years diagnosed with CIN2 on cervical biopsy from 1 January 2001 to 31 December 2010. Women who had not received treatment at ≥4 months following CIN2 diagnosis were classified as managed 'conservatively'. Subsequent cervical cytology and/or biopsy test results were used to report lesion regression (absence of dysplasia or an epithelial lesion of lower grade than CIN2) and disease persistence (CIN2, CIN3 or ACIS).Results: Follow-up data were available for 2417 women of whom 924 (38.2%) were 'conservatively' managed. In all, 152 (16.4%) conservatively managed women had a lesion more severe than CIN2 detected within 24 months of initial diagnosis, of which 144 were CIN3 and eight were ACIS. There was no statistically significant association between rates of regression and patient age, Socio-economic Indexes for Areas or Accessibility/Remoteness Index of Australia indices. The 2-year regression rate for CIN2 was estimated to be 59.5% (95%CI 0.5-0.6) in this cohort of women.Conclusion: In conservatively managed young women with CIN2 there was a high rate of spontaneous disease regression. Thus, excisional or ablative treatments may be avoided in selected patients who receive appropriate counseling and who are able to comply with more intensive and prolonged follow-up requirements. [ABSTRACT FROM AUTHOR]

Objective To provide data on how screen-positive and detection rates of first trimester prenatal screening for fetal Down syndrome vary with changes in the risk cut-off and maternal age to inform contingency criteria for publicly funded noninvasive prenatal testing. Materials and Methods First trimester screening and diagnostic data were collected for all women attending for first trimester fetal aneuploidy screening in Western Australia between 2005 and 2009. Prenatal screening and diagnostic data were linked to pregnancy outcomes, including data from the Midwives' Notification System and the Western Australian Registry of Developmental Anomalies. The prevalence of Down syndrome and performance of screening by risk cut-off and/or for women >35 years were analysed. Results The current screening risk cut-off of 1:300 has screen-positive and detection rates of 3.5% and 82%. The screen-positive rate increases by 0.7-0.8% for each 100 point change in risk, up to 19.2% at 1:2500 (96% detection rate). Including all women >35 years as screen positive would increase the screen-positive rate and detection rates to 30.2% and 97.2%. Conclusion Variation in screening risk cut-off and the use of maternal age to assess eligibility for noninvasive testing could significantly impact the demand for, and cost of, the test. A contingent first trimester screening approach for risk assessment is superior to the use of a combination of screening and maternal age alone. These data will inform decisions regarding the criteria used to determine eligibility for publicly funded noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Objective: To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia (1980-2013).Method: We analysed trends in termination rates and birth prevalence of Down syndrome using aggregated data (1980-2013). We modelled the expected live-birth rate and prevalence of Down syndrome and compared different eras of screening and diagnosis with respect to the impact on live-birth rate and prevalence of Down syndrome.Results: Between 1980 and 2013, the rate of Down syndrome pregnancies increased, corresponding to a greater proportion of babies born to older women. Following the introduction of screening in 1994, the rate of live-born infants with Down syndrome reduced significantly (p = 0.001). The rate of terminations of pregnancy for Down syndrome remained stable over this period. In the absence of termination, the Down syndrome live-birth rate would have risen from 1.1 per 1000 to 2.17 per 1000 between 1980 and 2013.Conclusion: Prenatal testing in Western Australia has reduced the birth prevalence of Down syndrome despite an increased rate of Down syndrome pregnancies. Most women for whom a prenatal diagnosis of fetal Down syndrome is made, chose to terminate the pregnancy (93%), and this proportion has not changed over the study period. [ABSTRACT FROM AUTHOR]

Aim 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. Materials and Methods Western Australian FTS and diagnostic data (2007-2009) were linked to pregnancy outcomes. Karyotype results from invasive prenatal testing in high-risk women were analysed. The outcomes of abnormal results that would not be detected by NIPT, assuming a panel of trisomy 21/18/13 and sex chromosome aneuploidies, and the likelihood of diagnosis in a screening model using NIPT as a second-tier test are described. Results Abnormal karyotype results were reported in 224 of 1488 (15%) women with high-risk pregnancies having invasive diagnostic testing. NIPT potentially would have identified 85%. The 33 abnormalities unidentifiable by NIPT were triploidies ( n = 7, 21%), balanced ( n = 8, 24%) and unbalanced rearrangements ( n = 10, 30%) and level III mosaicisms ( n = 8, 24%). For conditions not identifiable by NIPT, fetal sonographic appearance was likely to have led to invasive testing for 10 of 17 (59%) pathogenic abnormalities. If a policy was adopted recommending invasive testing for FTS risk >1:50 and/or ultrasound detected abnormality, the residual risk of an unidentified pathogenic chromosomal abnormality in those without a diagnosis would have been 0.33% (95% CI 0.01-0.65%). Conclusions A screening model with NIPT as a second-tier for high-risk pregnancies would be unlikely to have changed the outcome for the majority of pregnancies. Optimising the diagnosis of rare pathogenic abnormalities requires clear indicators for invasive testing over NIPT. [ABSTRACT FROM AUTHOR]

An introduction to the journal is presented on topics including aspects of the efficient and responsible integration of non-invasive prenatal testing with cell-free DNA into the Australian healthcare setting; obstetric care; and prenatal diagnostic testing.

In Canto XXVIII of the Paradiso, Beatrice reveals to Dante the nine spheres of the celestial hierarchies, each controlled by one of the ranks of angels. In the opening of this canto, Dante coins the word 'imparadises,' which coordinates with two earlier coinages in the Paradiso: 'transhumanize' and 'intrine.' This essay explores the meaning and context of these three words, along with discussions of Robert Duncan's and Osip Mandelstam's involvements with Dante's poem, all of which leads to a more personal investigation of the origin of a poem of my own, 'When Twilight into Noonday Knowledge Gyres,' in which I try to recreate some of the effects of Dante's poem. [ABSTRACT FROM AUTHOR]

Background In 2006, Australia adopted a revised cervical cytology terminology system, known as the Australian Modified Bethesda System ( AMBS). One substantial change in the AMBS was the introduction of the diagnostic category of atypical endocervical cells ( AEC) of undetermined significance. Aim The aim of this study was to investigate the incidence of histologically confirmed high-grade cervical dysplasia (cervical intra-epithelial neoplasia ( CIN) grades 2 and 3 and adenocarcinoma in situ ( ACIS)), cervical carcinoma and endometrial carcinoma in women presenting with AEC on cervical cytology. Methods A seven-year retrospective study examining clinical outcomes of women with AEC on a screening cervical smear. Cytology and histology results were extracted from the Western Australia Cervical Screening Registry, and time-to-event analysis was used to predict the odds of having or developing in situ and invasive neoplasia. Results AEC was reported in index smears from 0.093% (584/622754) women during the study period. No follow-up was available in 35 AEC cases. Sixty-five of the remaining 549 women (11.8%) had, or developed, high-grade cervical dysplasia within five years of their index AEC diagnosis. Endometrial cancer was diagnosed in 21 women and cervical cancer in four women during the follow-up period. Conclusion Cytologic demonstration of AEC requires careful gynaecologic evaluation, particularly in younger women who may be found to have either high-grade squamous ( CIN) or glandular ( ACIS) lesions, while in older women, the possibility of endometrial neoplasia needs to be considered. [ABSTRACT FROM AUTHOR]

Background In Australia, high-risk human papillomavirus ( HR HPV) testing is recommended for follow-up of women treated for a high-grade squamous intra-epithelial lesion ( HSIL). The sensitivity of HR HPV testing is critical to identify women at risk of further high-grade cervical disease. In Australia, this management protocol is known as the ' Test of Cure' ( To C). Aim To conduct a population-based study investigating practitioners' compliance with To C. Materials and Methods Women treated for an HSIL between the five-year period 01 Jan 2006 to 31 Dec 2010 were identified and followed up for at least a 27-month period. Proportions and relative odds were determined for women entering and completing the To C management pathway within recommended time frames. Results There were 5,194 women identified as 'eligible' to enter the To C management pathway. Of these, 1,916 (37%) were managed with annual Pap smears and never had a HR HPV test performed. There were 1,296 (25%) women who entered the To C management pathway within recommended time frames, and a further 1,978 (38%) women entered outside of the recommended time frames. Overall, 961 women completed the To C and were classified as 'cured' and were eligible to return to two-yearly Pap smears. Women's demographic information was significantly associated with To C commencement, specifically, age and year of treatment, and Index of Relative Socioeconomic Disadvantage. Conclusion Overall, a significant number of Australian women did not enter (~37%) and complete (~50%) the To C management pathway. The challenge remains to advocate its use to practitioners to ensure women are returned to the population screening interval in a timely manner. [ABSTRACT FROM AUTHOR]

The article analyzes the television series "Game of Thrones." It explores the roles played by the main characters, such as Catelyn Stark and Eddard Stark, in the second chapter of series. Details on "A Clash of Kings," the second episode of the novel, are presented. The episode narrates the perspective of Cressen, a fictional character whose knowledge occupies a place of significance that is parallel the religion of the continent Westeros.

Objective: The objectives of this study are to evaluate the development and implementation of Medicare Locals as new primary care organisations and consider the implications of these findings for the wider challenge of strengthening primary healthcare in Australia and internationally. Design: National survey of Medicare Locals which involved the use of content analysis and a descriptive survey tool. Setting: 61 Medicare Locals in Australia. Participants: The survey was distributed electronically to all 61 Medicare Local Chief Executive Officers (CEOs) between October and December 2013. Main outcome measures: The research was interested in exploring the following areas; the form and function of Medicare Locals; the confidence and capacity of Medicare Locals to perform against their objectives around population planning and system integration; their ability to engage relevant stakeholder groups; and the barriers and facilitators to reform. Results: A total of 43 (70%) of Medicare Locals completed the survey with representation from six of the eight Australian states and Territories. Results suggest differences in the form and function of the Medicare Local organisations and considerable diversity in the implementation of Medicare Local organisations across Australia. This diversity and lack of guidance from government impacted on the overall success of the reform. Other barriers to reform included difficulties in stakeholder relationships and limited incentives (financial and other) to drive and influence change. Conclusions: Findings from this study produce important insights for primary care reform in Australia; and internationally it adds to the growing body of knowledge around primary care reform. [ABSTRACT FROM AUTHOR]

Purpose: To describe cancer prevalence and hospital service utilization by prevalent cancer patients in Western Australia from 1992 to 2011. Methods: This study was a population-based cohort study using the Western Australia (WA) Cancer Registry (1982 to 2011) as the source of incident cancer cases. These data were linked to mortality (1982 to 2011) and hospital morbidity (1998 to 2011) records via the WA Data Linkage System to ascertain complete and limited-duration prevalence and cancer-related hospitalizations over time. Prevalence rates were calculated using estimated residential population data from the Australian Bureau of Statistics. Results: In 2011, one in every 27 people living in WA had been diagnosed with cancer at some time in their lifetime, and one in 68 had been diagnosed within the previous five years. Between 1992 and 2011, complete cancer prevalence in Western Australia increased by a magnitude of 2.5-fold. Forty-five and 44% of the increase in complete cancer prevalence in males and females between 1992 and 2011 can be attributed to prostate and breast cancer, respectively. The absolute number of cancer-related bed days increased 81 and 74% in males and females, respectively, diagnosed within one year, between 1998 and 2011. Conclusions: The prevalence of cancer and the burden it places on hospitals continues to rise, demanding ongoing efforts to prevent cancer through modifiable risk factors and better, more efficient use of health resources. Steps should to be taken to understand and address overdiagnosis and overtreatment. [ABSTRACT FROM AUTHOR]

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition. [ABSTRACT FROM PUBLISHER]

Background: The World Health Organization (WHO) has recommended measurement of neonatal thyroid-stimulating hormone (TSH) as a marker of population iodine status. A population is considered iodine sufficient when <3% of neonatal blood samples collected 3-4 days after birth have TSH concentrations >5 mIU/L. However, changes in technology and clinical practices have opened the WHO criteria to various interpretations. Aim: This study aimed to investigate the effects of time of sampling, weight, and sex on neonatal TSH concentrations by analyzing neonatal TSH data, based on the WHO criteria for population iodine sufficiency. Methods: We analyzed the Western Australian (WA) Newborn Screening Program records for 198,826 babies born in WA between 2005 and 2011, to determine the relationship between neonatal TSH concentrations and time of sampling, weight, and sex. Results: The proportion of TSH results above the WHO cut-off was higher for samples collected 48-72 h after birth rather than later, for males, for birth weights below 2500 g, and when a cut-off of 5.0 mIU/L was used. Conclusion: Following changes in newborn screening protocols and earlier collection of blood samples, the WHO criteria appear inappropriate. We recommend that WHO revise current guidelines regarding use of neonatal TSH for monitoring population iodine status. [ABSTRACT FROM AUTHOR]

Objective To analyse the cost-effectiveness and performance of noninvasive prenatal testing ( NIPT) for high-risk pregnancies following first-trimester screening compared with current practice. Methods A decision tree analysis was used to compare the costs and benefits of current practice of first-trimester screening with a testing pathway incorporating NIPT. We applied the model to 32 478 singleton pregnancies screened between January 2005 and December 2006, adding Medicare rebate data as a measure of public health system costs. The analyses reflect the actual uptake of screening and diagnostic testing and pregnancy outcomes in this cohort. Results The introduction of NIPT would reduce the number of invasive diagnostic procedures and procedure-related fetal losses in high-risk women by 88%. If NIPT was adopted by all women identified as high risk by first-trimester combined screening, up to 7 additional Down syndrome fetuses could be confirmed. The cost per trisomy 21 case confirmed, including NIPT was 9.7% higher ($56 360) than the current prenatal testing strategy ($51 372) at a total cost of $3.91 million compared with $3.57 million over 2 years. Conclusion Based on the uptake of screening and diagnostic testing in a retrospective cohort of first-trimester screening in Western Australia, the implementation of NIPT would reduce the number of invasive diagnostic tests and the number of procedure-related fetal losses and increase the cost by 9.7% over two years. Policy planning and guidelines are urgently required to manage the funding and demand for NIPT services in Australia. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective 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. Methods Patients who presented at a health service or collection centre for blood tests were invited to participate. One hundred and ninety-one Aboriginals and 159 non- Aboriginals were recruited between April 2008 and September 2009. Participants completed a five-minute questionnaire and had blood taken for red blood cell ( RBC) folate and serum vitamin B12. Data were analysed using SPSS (version 17.0.2, SPSS Inc., Chicago, IL, USA). Results Ten per cent (95% confidence intervals ( CI): 5, 19) of the Aboriginal women participants and 26% (95% CI: 16, 40) of men had RBC folate concentrations below 250 ng/mL, the cut-off associated with folate deficiency. None of the non- Aboriginal women (95% CI: 0, 4) and 4% of the non- Aboriginal men (95% CI: 2, 12) had RBC folate concentrations below 250 ng/mL. All participants were vitamin B12 replete. None of the 96 Aboriginal and 8% of non- Aboriginal women aged 16-44 reported consumption of supplements with a daily intake of >400 μg folic acid during the previous week. Conclusions and implications This study established a baseline of RBC folate, folate consumption and supplement use in Aboriginal and non- Aboriginal groups. We identified 10% of Aboriginal women and none of non- Aboriginal women participants with low folate concentrations. The higher prevalence of folate deficiency in Aboriginal participants suggests they are more likely to benefit from a universal program of folate fortification. [ABSTRACT FROM AUTHOR]

There is a need to develop Internet-based rare disease registries to support health care stakeholders to deliver improved quality patient outcomes. Such systems should be architected to enable multiple-level access by a range of user groups within a region or across regional/country borders in a secure and private way. However, this functionality is currently not available in many existing systems. A new approach to the design of an Internet-based architecture for disease registries has been developed for patients with clinical and genetic data in geographical disparate locations. The system addresses issues of multiple-level access by key stakeholders, security and privacy. The system has been successfully adopted for specific rare diseases in Australia and is open source. The results of this work demonstrate that it is feasible to design an open source Internet-based disease registry system in a scalable and customizable fashion and designed to facilitate interoperability with other systems. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Familial hypercholesterolaemia (FH) is a condition that should be familiar to all health professionals involved in preventive medicine. FH is the most common and serious monogenic disorder of lipid metabolism that leads to premature coronary heart disease. However, most cases remain undetected or inadequately treated in our community. We provide an overview of FH, with emphasis on evidence for treatment, new models of care (MoCs) and health economic evaluations. Evidence for treatment is based on cohort studies; while this is a low level class of evidence, MoCs concur in recommending early intervention and lowering of plasma low-density lipoprotein-cholesterol levels by at least 40% with statins. Preliminary health economic evaluations suggest that detecting and treating FH is cost-effective, but further studies based on high-quality international data and standardised costing methods are needed. If the recommendations in the published MoCs are followed, there is likely to be significant improvement in the health and quality of life of patients with FH and their families, as well as major cost savings in healthcare for end-organ damage, including myocardial infarction, acute coronary syndromes and possibly stroke, but this requires to be verified. [ABSTRACT FROM AUTHOR]

OBJECTIVE--To assess the glucagon response to hypoglycemia and identify influencing factors in patients with type 1 diabetes compared with nondiabetic control subjects. RESEARCH DESIGN AND METHODS--Hyperinsulinemic hypoglycemic clamp studies were performed in all participants. The glucagon response to both hypoglycemia and arginine was measured, as well as epinephrine, cortisol, and growth hormone responses to hypoglycemia. Residual β-cell function was assessed using fasting and stimulated C-peptide. RESULTS--Twenty-eight nonobese adolescents with type 1 diabetes (14 female, mean age 14.9 years [range 11.2-19.8]) and 12 healthy control subjects (6 female, 15.3 years [12.8-18.7]) participated in the study. Median duration of type 1 diabetes was 0.66 years (range 0.01-9.9). The glucagon peak to arginine stimulation was similar between groups (P = 0.27). In contrast, the glucagon peak to hypoglycemia was reduced in the group with diabetes (95% CI): 68 (62-74) vs. 96 (87-115) pg/mL (P < 0.001). This response was greater than 3 SDs from baseline for only 7% of subjects with type 1 diabetes in comparison with 83% of control subjects and was lost at a median duration of diabetes of 8 months and as early as 1 month after diagnosis (R = 2 0.41, P < 0.01). There was no correlation in response with height, weight, BMI, and HbA1c. Epinephrine, cortisol, and growth hormone responses to hypoglycemia were present in both groups. CONCLUSIONS--The glucagon response to hypoglycemia in adolescents with type 1 diabetes is influenced by the duration of diabetes and can be lost early in the course of the disease. [ABSTRACT FROM AUTHOR]

Summary Objective Hypothyroidism and hyperthyroidism are each associated with anaemia, but relationships between thyroid function and erythrocyte indices in euthyroid subjects have not been examined. The aim of this study was to examine these relationships in a community-based cohort. Design, subjects and measurements Linear regression models with free T4, free T3 and TSH as predictors of erythrocyte indices and serum iron parameters were fitted to data from a cohort of 1179 participants in the 1994 Busselton health study and a subset of 1011 euthyroid participants. All models were adjusted for age, age2, sex and an age-sex interaction. Results In the full cohort and euthyroid subset, there were significant, positive linear relationships between free T4 and each of haemoglobin, haematocrit and erythrocyte count ( P < 0·01 for each), such that in euthyroid participants, each 1·0 p m increase in free T4 was associated with an increase in haemoglobin of 0·39 g/l. There were significant relationships between free T3 and each of haemoglobin, haematocrit and erythrocyte count ( P < 0·001 for each), with the best model fits obtained using free T32, indicating curved relationships. TSH had a significant ( P < 0·05) inverse relationship with serum iron and transferrin saturation in the full cohort and the euthyroid subset. Serum iron concentrations were lower in participants with subclinical hypothyroidism ( n = 87) than euthyroid subjects [mean (SD) 15·9 (4·7) vs 18·4 (6·0) μ m, P = 0·001]. Conclusion In euthyroid subjects, small differences in thyroid function are associated with significant differences in erythrocyte indices. [ABSTRACT FROM AUTHOR]

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. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

lthough the role of single gene and chromosomal disorders in pediatric illness has been recognized since the 1970s, there are few data describing the impact of these often severe disorders on the health of the adult population. In this study, we present population data describing the impact of single gene and chromosomal disorders on hospital admissions of patients aged 20 years and over in Western Australia between 2000 and 2006. The number, length, and cost of admissions were investigated and compared between disease categories and age groups and to hospital admissions for any reason. In total, 73,211 admissions and 8,032 patients were included in the study. The most costly disorders were cystic kidney disease, α-1 anti-trypsin deficiency, hemochromatosis, von Willebrand disease, and cystic fibrosis. Overall, patients with single gene and chromosomal disorders represented 0.5% of the patient population and were responsible for 1.9% of admissions and 1.5% of hospital costs. These data will enable informed provision of health care services for adults with single gene and chromosomal disorders in Australia. [ABSTRACT FROM AUTHOR]

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 too (AdjOR=3.1,95%Cl 2.1 4.5 ), thought it conveyed useful information (AdjOR=5.0, 95%Cl 2.6-9.6), perceived family history to be more important than before they read the tool (AdjOR=3.4, 95%Cl 2.3-4.9) and had not previously collected family health history information (AdjOR=1.8, 95%Cl 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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 data (2005-2006) were collected from accredited ultrasound and pathology laboratories in Western Australia. Screening data were linked to diagnostic and pregnancy outcome data. Performance characteristics of screening and uptake by socio-demographic characteristics were analysed. Complete screening data were collected for 35,142 of the estimated 38,081 women screened during 2005 and 2006. There were 59,999 births related to this screening period. The lowest uptake of screening was among women who were Aboriginal (14.9%), living in remote areas (38.0%), under the age of 25 (40.2%), in the lowest quintile of the SEIFA index (41.6%) and with three or more children (48.4%). Logistic regression analysis showed all socio-demographic factors to be strongly associated with screening behaviour, with adjustment for ethnicity, socio-economic status, age, parity and area of residence. Our results have important implications for the delivery of prenatal screening services in Western Australia. While the screening programme meets international and national performance standards, the disparities in screening uptake suggest inequity in access to services, particularly for Aboriginal, remote and socio-economically disadvantaged women. [ABSTRACT FROM AUTHOR]

Increasing emphasis on genetic research means that growing numbers of human research projects in Australia will involve complex issues related to genetic privacy, familial information and genetic epidemiology. The Office of Population Health Genomics (Department of Health, Western Australia) hosted an interactive workshop to explore the ethical issues involved in the disclosure of genetic information, where researchers and members of human research ethics committees (HRECs) were asked to consider several case studies from an ethical perspective. Workshop participants used a variety of approaches to examine the complex ethical issues encountered, but did not consistently refer to the values and principles outlined in the National Statement on Ethical Conduct in Human Research (NHMRC 2007) or apply rational ethical approaches. Overall, the data suggested that both researchers and HREC members may benefit from further education and support regarding the application of ethical frameworks to the issues encountered in genetic research. [ABSTRACT FROM AUTHOR]