Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.

AIM: Familial hypercholesterolaemia (FH) is a common and treatable cause of premature coronary artery disease. However, the majority of individuals with FH remain undiagnosed. This study investigated the feasibility, acceptability and cost-effectiveness of screening children aged 1-2 years for FH at the time of an immunisation. METHODS: Children 1-2 years of age were offered screening for FH with a point-of-care total cholesterol (TC) test by capillary-collected blood sample at the time of an immunisation. An additional blood sample was taken to allow genetic testing if the TC level was above the 95th percentile (>5.3 mmol/L). Parents of children diagnosed with FH were offered testing. Following detection of the affected parent, cascade testing of their first-degree blood relatives was performed. RESULTS: We screened 448 children with 32 (7.1%) having a TC ≥ 5.3 mmol/L. The FH diagnosis was confirmed in three children (1:150 screened). Reverse cascade testing of other family members identified a further five individuals with FH; hence, eight new cases of FH were diagnosed from screening 448 children (1:56 screened). Ninety-six percent of parents would screen future children for FH. The approach was cost-effective, at $3979 per quality-adjusted life year gained. CONCLUSION: In Western Australia, universal screening of children aged 1-2 years for FH, undertaken at the time of an immunisation, was a feasible and effective approach to detect children, parents and other blood relatives with FH. The approach was acceptable to parents and is potentially a highly cost-effective detection strategy for families at risk of FH.

Implications of new clinical practice guidance on familial hypercholesterolaemia for Australian general practitioners.

BACKGROUND: Familial hypercholesterolaemia (FH) is a monogenic lipid disorder that may be overlooked in the diagnostic process. OBJECTIVE: The aim of this article is to review the key areas for identification and management of FH that affect Australian general practitioners (GPs). DISCUSSION: Recent consensus advice on the care of patients with FH in Australia provides an opportunity for GPs to increase their awareness and skills in diagnosing and managing FH. New Medicare Benefits Schedule items for genetic testing and Pharmaceutical Benefits Scheme listing for the use of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors offer GPs additional supports to improve the care of patients with FH. A shared-care approach between GPs and non-GP specialists with expertise in multiple disciplines offers the best option to facilitate genetic testing and management of index cases and affected family relatives. Implementation of this guidance in the primary care setting remains an ongoing challenge and needs to be embraced as a high priority.

Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia.

BACKGROUND/AIMS: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public perspectives on the acceptability of this approach. METHODS: A one-day deliberative public forum was held in Perth, WA, Australia. Thirty randomly selected individuals were recruited, with self-reported sociodemographic characteristics used to obtain discursive representation. Participants were presented with information from a variety of perspectives and asked to discuss the information provided to identify points of consensus and disagreement. The data collected were analysed using thematic analysis. RESULTS: Of the 17 participants at the forum, 16 deemed universal screening of children for FH to be acceptable. Fifteen of these 16 believed this was best performed at the time of an immunisation. Participants proposed a number of conditions that should be met to reduce the likelihood of unintended harm resulting from the screening process. DISCUSSION/CONCLUSION: The outcomes of the forum suggest that establishing a universal screening programme for FH in childhood is acceptable to the general public in WA.

Detection and management of familial hypercholesterolaemia in primary care in Australia: protocol for a pragmatic cluster intervention study with pre-post intervention comparisons.

INTRODUCTION: Familial hypercholesterolaemia (FH), an autosomal dominant disorder of lipid metabolism, results in accelerated onset of atherosclerosis if left untreated. Lifelong treatment with diet, lifestyle modifications and statins enable a normal lifespan for most patients. Early diagnosis is critical. This protocol trials a primary care-based model of care (MoC) to improve detection and management of FH. METHODS AND ANALYSIS: Pragmatic cluster intervention study with pre-post intervention comparisons in Australian general practices. At study baseline, current FH detection practice is assessed. Medical records over 2 years are electronically scanned using a data extraction tool (TARB-Ex) to identify patients at increased risk. High-risk patients are clinically reviewed to provide definitive, phenotypic diagnosis using Dutch Lipid Clinic Network Criteria. Once an index family member with FH is identified, the primary care team undertake cascade testing of first-degree relatives to identify other patients with FH. Management guidance based on disease complexity is provided to the primary care team. Study follow-up to 12 months with TARB-Ex rerun to identify total number of new FH cases diagnosed over study period (via TARB-Ex, cascade testing and new cases presenting). At study conclusion, patient and clinical staff perceptions of enablers/barriers and suggested improvements to the approach will be examined. Resources at each stage will be traced to determine the economic implications of implementing the MoC and costed from health system perspective. Primary outcomes: increase in number of index cases clinically identified; reduction in low-density lipoprotein cholesterol of treated cases. SECONDARY OUTCOMES: increase in the number of family cases detected/contacted; cost implications of the MoC. ETHICS AND DISSEMINATION: Study approval by The University of Notre Dame Australia Human Research Ethics Committee Protocol ID: 0 16 067F. Registration: Australian New Zealand Clinical Trials Registry ID: 12616000630415. Information will be disseminated via research seminars, conference presentations, journal articles, media releases and community forums. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry ID 12616000630415; Pre-results.

Findings from a clinical audit in regional general practice of management of patients following acute coronary syndrome.

Patients with acute coronary syndrome (ACS) require ongoing treatment and support from their primary care provider to modify cardiovascular risk factors (including diet, exercise and mood), to receive evidence-based pharmacotherapies and be properly monitored and to ensure their take-up and completion of cardiac rehabilitation (CR). This study assesses adherence to National Heart Foundation guidelines for ACS in primary care in a regional centre in Western Australia. Patients discharged from hospital after a coronary event (unstable angina or myocardial infarction) or a coronary procedure (stent or coronary artery bypass graft) were identified through general practice electronic medical records. Patient data was extracted using a data form based on National Heart Foundation guidelines. Summary statistics were calculated and reported. Our study included 22 GPs and 44 patients in a regional centre. In total, 90% (n=39) of discharge summaries recorded medications. Assessment of pharmacological management showed that 53% (n=23) of patients received four or more classes of pharmacotherapy and that GPs often augmented medication beyond that prescribed at discharge. Of 15 smokers, 13 (87%) had advice to quit documented. Minimal advice for other risk-factor modification was documented in care plans. Patients with type 2 diabetes (n=20) were 70% more likely to receive allied health referral (P=0.02) and 60% more likely to receive advice regarding diet and exercise (P=0.007). However, overall, only 30% (n=13) of those eligible were referred to a dietician, and only 25% were referred to CR (n=10) with six completing CR. Although most GPs did not use standardised tools for mood assessment, 18 (41%) patients were diagnosed as depressed, of which 88% (n=16) were started on antidepressants and 28% (n=6) were referred to a psychologist. Although pharmacotherapy, mood management and smoking cessation management generally followed recommended guidelines, risk factor management relating to diet and exercise by GPs require improvement. Detailed care plans and referral to CR and allied health staff for patient support is recommended.

Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases.

BACKGROUND: Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice. METHOD: An extraction tool applied to general practice electronic health records (EHR) to screen for FH, total cholesterol and low density lipoprotein cholesterol (LDL-c) levels in association with entered diagnostic criteria and demographic data in five general practices. RESULTS: Of 157,290 active patients examined, 0.7% (n=1081) had an LDL-c>5.0 mmol/L representing 1 in 146 of active patients. An additional 0.8% (n=1276) patients were at possible risk of FH. Of those with an LDL-c>5.0 mmol/L 43.7% of patients had no record of being prescribed statins. Twenty patients (0.013%) had a clinical diagnosis of FH entered in the EHR. CONCLUSIONS: Patients at high risk of FH can be identified by a simple electronic screening method in general practice. Clinical data entry is variable in general practice. Targeted screening enables clinical assessment of patients at risk of cardiovascular disease and using the DLCNS will enable primary care to increase identification of FH. Approximately one in five patients extracted using this method, are likely to have phenotypically probable FH, making it a useful screening tool.

Challenges in the care of familial hypercholesterolemia: a community care perspective.

Familial hyperchoelsterolaemia (FH) remains under-diagnosed and under-treated in the community setting. Earlier evidence suggested a prevalence of 1:500 worldwide but newer evidence suggests it is more common. Less than 15% of FH patients are ever diagnosed, with children and young adults rarely tested despite having the most to gain given their lifetime exposure. Increasing awareness among primary care teams is critical to improve the detection profile for FH. Cascade testing in the community setting needs a sustainable approach to be developed to facilitate family tracing of index cases. The use of the Dutch Lipid Clinic Network Criteria score to facilitate a phenotypic diagnosis is the preferred approach adopted in Australia and eliminates the need to undertake genetic testing for all suspected FH cases.

The development of a new cardiac rehabilitation needs assessment tool (CRNAT) for individualised secondary prevention.

BACKGROUND: Cardiac rehabilitation and secondary prevention are evidence-based strategies to reduce the risk of recurrent cardiac events but are underutilised. New approaches are required to improve uptake. METHODS: A new cardiac rehabilitation needs assessment tool (CRNAT), for use by cardiology ward nurses, was developed and refined in collaboration with stakeholders through action research. The tool documented patients' risk factors, initiated a discussion about secondary prevention and linked patients to post-discharge follow-up. The initial version of the tool was developed through consultation with cardiac rehabilitation specialist staff (n=3), reviewed by ward nurses (n=4) and general practitioners (GP) (n=8), and piloted in patients (n=8). Review was undertaken at six months post implementation through patient (n=66) and GP (n=10) surveys, with additional patient feedback through focus groups (n=8 patients) and phone interviews (n=14). At 12 months, ward nurses (n=21) were surveyed. RESULTS: The CRNAT was well regarded by patients and GPs and stakeholder feedback resulted in only minor changes to the tool's content. Feedback from ward nurses led to important changes to the process of administering the tool to streamline its use in an inpatient setting. CONCLUSIONS: Feedback from end users is important when developing a new clinical tool to ensure it meets their requirements.

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.

A systematic approach to chronic heart failure care: a consensus statement.

The National Heart Foundation of Australia assembled an expert panel to provide guidance on policy and system changes to improve the quality of care for people with chronic heart failure (CHF). The recommendations have the potential to reduce emergency presentations, hospitalisations and premature death among patients with CHF. Best-practice management of CHF involves evidence-based, multidisciplinary, patient-centred care, which leads to better health outcomes. A CHF care model is required to achieve this. Although CHF management programs exist, ensuring access for everyone remains a challenge. This is particularly so for Aboriginal and Torres Strait Islander peoples, those from non-metropolitan areas and lower socioeconomic backgrounds, and culturally and linguistically diverse populations. Lack of data and inadequate identification of people with CHF prevents efficient patient monitoring, limiting information to improve or optimise care. This leads to ineffectiveness in measuring outcomes and evaluating the CHF care provided. Expanding current cardiac registries to include patients with CHF and developing mechanisms to promote data linkage across care transitions are essential. As the prevalence of CHF rises, the demand for multidisciplinary workforce support will increase. Workforce planning should provide access to services outside of large cities, one of the main challenges it is currently facing. To enhance community-based management of CHF, general practitioners should be empowered to lead care. Incentive arrangements should favour provision of care for Aboriginal and Torres Strait Islander peoples, those from lower socioeconomic backgrounds and rural areas, and culturally and linguistically diverse populations. Ongoing research is vital to improving systems of care for people with CHF. Future research activity needs to ensure the translation of valuable knowledge and high-quality evidence into practice.

Optimising the detection and management of familial hypercholesterolaemia: central role of primary care and its integration with specialist services.

Familial hypercholesterolaemia (FH) is the most common monogenic lipid disorder associated with premature coronary heart disease (CHD). However, the majority of people with FH are undiagnosed or undertreated. Early cholesterol lowering therapy reduces cardiovascular disease mortality in FH. Low awareness and knowledge of FH in specialty and general practice highlights the need for strategies to improve the detection and management of FH. We present an algorithm describing a multidisciplinary approach to FH detection and management. We highlight the role of primary care, and where GPs can work with preventive cardiologists to improve care of FH. Novel strategies to detect index cases with FH are presented including the community laboratory, highlighting patients at high risk of FH, and targeted FH detection through searching the general practice database. General practitioners request over 90% of LDL cholesterol measurements in the community. Once an individual with FH is detected only a small proportion of patients require specialty management with the majority of patients suitably managed in primary care. However, it is crucial to screen family members, as 50% of first-degree family members are expected to have FH due to the autosomal dominant inheritance.

Familial hypercholesterolaemia in primary care: knowledge and practices among general practitioners in Western Australia.

AIM: To determine general practitioners' (GPs') knowledge and practice regarding familial hypercholesterolaemia (FH) in Western Australia. METHOD: A structured questionnaire was anonymously completed by GPs. Information was sought on awareness and knowledge of FH including, diagnosis, inheritance, prevalence, cardiovascular risk, management practices and opinions on FH screening. RESULTS: 191 GPs completed the survey, 62% were familiar with FH, 80% correctly defined FH and 68% identified the typical lipid profile, but only 33% were aware of national guidelines. There were knowledge deficits in prevalence, inheritance, and clinical features of FH, with correct responses in 27%, 45% and 38%, respectively. Most (84%) GPs considered themselves the most effective health professionals to detect FH, with 90% preferring laboratory interpretative commenting to highlight individuals at risk of FH. GPs identified appropriate cholesterol lowering drugs as mono (95%) or combination therapies (74%). CONCLUSION: The majority of GPs considered they were the most effective health practitioners for managing FH and preferred laboratory reports to alert them of possible FH. Although GPs knowledge of cholesterol lowering therapies was good, their awareness of national guidelines, hereditability, prevalence and diagnostic features of FH was suboptimal. Implementing a community model of care for FH requires more extensive GP education.