Peter O’Leary

Familial hypercholesterolaemia: A model of care for Australasia

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that causes marked elevation in plasma cholesterol and premature coronary heart disease. There are at least 45,000 people with FH in Australia and New Zealand, but the vast majority remains undetected and those diagnosed with the condition are inadequately treated. To bridge this major gap in coronary prevention the FH Australasia Network (Australian Atherosclerosis Society) has developed a consensus model of care (MoC) for FH. The MoC is based on clinical experience, expert opinion, published evidence and consultations with a wide spectrum of stakeholders, and has been developed for use primarily by specialist centres intending starting a clinical service for FH. This MoC aims to provide a standardised, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes. The MoC for FH is presented as a series of recommendations and algorithms focusing on the standards required for the detection, diagnosis, assessment and management of FH in adults and children. The process involved in cascade screening and risk notification, the backbone for detecting new cases of FH, is detailed. Guidance on treatment is based on risk stratifying patients, management of non-cholesterol risk factors, safe and effective use of statins, and a rational approach to follow-up of patients. Clinical and laboratory recommendations are given for genetic testing. An integrative system for providing best clinical care is described. This MoC for FH is not prescriptive and needs to be complemented by good clinical judgment and adjusted for local needs and resources. After initial implementation, the MoC will require critical evaluation, development and appropriate modification.

Significant inverse relationship between serum free T4 concentration and body mass index in euthyroid subjects: differences between smokers and nonsmokers.

Objective  There are conflicting data regarding the relationship between thyroid function and body mass index (BMI) in euthyroid subjects, and it is uncertain whether tobacco smoking modifies this relationship. The objective of this study was to examine the relationships between thyroid function, BMI and smoking in euthyroid subjects.

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.

Regional variations in prenatal screening across Australia: Stepping towards a national policy framework

Background:  A relatively few centres across Australia provide screening tests for maternal serum markers or ultrasound measurement of fetal nuchal translucency to assess risk of fetal anomalies such as Down syndrome. While providers engage in external accreditation and quality assurance programs, state and federal governments have been slow to formulate relevant policies and standards.

A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology

Familial hypercholesterolaemia (FH) is the most common monogenic cause of premature coronary artery disease. FH remains underdiagnosed and inadequately treated, with no national strategies for dealing with the problem. We report an executive summary of a comprehensive model of care for FH developed in Western Australia.

Increasing Incidence of Colorectal Cancer in Adolescents and Young Adults Aged 15–39 Years in Western Australia 1982–2007: Examination of Colonoscopy History

Aims To examine trends in colorectal cancer (CRC) incidence and colonoscopy history in adolescents and young adults (AYAs) aged 15–39 years in Western Australia (WA) from 1982 to 2007. Design Descriptive cohort study using population-based linked hospital and cancer registry data. Method Five-year age-standardized and age-specific incidence rates of CRC were calculated for all AYAs and by sex. Temporal trends in CRC incidence were investigated using Joinpoint regression analysis. The annual percentage change (APC) in CRC incidence was calculated to identify significant time trends. Colonoscopy history relative to incident CRC diagnosis was examined and age and tumor grade at diagnosis compared for AYAs with and without pre-diagnosis colonoscopy. CRC-related mortality within 5 and 10 years of incident diagnosis were compared for AYAs with and without pre-diagnosis colonoscopy using mortality rate ratios (MRRs) derived from negative binomial regression. Results Age-standardized CRC incidence among AYAs significantly increased in WA between 1982 and 2007, APC = 3.0 (95% CI 0.7–5.5). Pre-diagnosis colonoscopy was uncommon among AYAs (6.0%, 33/483) and 71% of AYAs were diagnosed after index (first ever) colonoscopy. AYAs with pre-diagnosis colonoscopy were older at CRC diagnosis (mean 36.7 ± 0.7 years) compared to those with no prior colonoscopy (32.6 ± 0.2 years), p < 0.001. At CRC diagnosis, a significantly greater proportion of AYAs with pre-diagnosis colonoscopy had well-differentiated tumors (21.2%) compared to those without (5.6%), p = 0.001. CRC-related mortality was significantly lower for AYAs with pre-diagnosis colonoscopy compared to those without, for both 5-year [MRR = 0.44 (95% CI 0.27–0.75), p = 0.045] and 10-year morality [MRR = 0.43 (95% CI 0.24–0.83), p = 0.043]. Conclusion CRC incidence among AYAs in WA has significantly increased over the 25-year study period. Pre-diagnosis colonoscopy is associated with lower tumor grade at CRC diagnosis as well as significant reduction in both 5- and 10-year CRC-related mortality rates. These findings warrant further research into the balance in benefits and harms of targeted screening for AYA at highest risk.

A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: pragmatic and economic perspectives

Objective:To analyze various business models for improving the diagnosis and treatment of familial hypercholesterolaemia. Methods:Five different strategies were analyzed and data were collected through documentary analysis and structured interviews. Interviewees included professionals from universities, Western Australia Department of Health, private medical practitioners and not-for-profit organizations. Results:Two business models are recommended: alliance with general practitioners and primary health care organizations and a joint venture model between private cardiology clinics and lipid disorder clinics in the public sector. Primary care providers are in a good position to co-ordinate across the multi-disciplinary health services required to treat familial hypercholesterolaemia within the population. Conclusions:Devolution of knowledge on treatment of familial hypercholesterolaemia from centralized specialist hospital clinics to primary care services is required to improve the rate of detection of this condition in the community. An International Classification of Disease (ICD)-10 and/or a Diagnosis-Related Group (DRG) code is required to codify, catalogue and document new cases and treatment, as well as to facilitate research and re-imbursement strategies. Primary Health Care Organizations can usefully facilitate the transfer of knowledge on best standard of care to general practice, but the best model of care will require close integration of care with specialist and academic centres.

Women’s Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening

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.

Knowledge of non-invasive prenatal testing among pregnant women.

TO THE EDITOR: Non-invasive prenatal testing (NIPT) for trisomy 21 and other chromosomal abnormalities using cell-free fetal DNA became available in Australia on a user-pays basis in 2012.1,2 Since then, the price of this highly accurate screening test has fallen as multiple international providers entered the market, including, earlier this year, the first Australian provider.1,3 The growth in the industry and anecdotal evidence both suggest that demand for the test is increasing rapidly.

Revisiting consent for health information databanks

This paper argues that specific individual informed consent and other forms of consent predicated on a right to autonomy may not in all circumstances be appropriate for the establishment and use of large data sets of health information. We suggest that there are inherent failings in such an approach, shortcomings that we analyse below. We argue that individuals share an obligation to contribute their data, as doing so is cost-free (however cost is construed) and benefits accrue to the population as a whole. Large health data sets can be considered public goods – goods that are non-rival in consumption (they are not depleted in being used, so others are not prevented from using them) and in some cases non-exclusive in use (e.g. when large datasets of non-identifiable information are publicly-accessible without cost, such as some Australian Bureau of Statistics data) – and contributing to these goods may be an obligation, the meeting of which allows citizens to invest in knowledge infrastructure. The approach argued for here is a variation of a communitarian ethic in which people have an obligation to contribute their data but have no correlative right to expect or receive an individual benefit.