European Journal of Human Genetics - Systematic review of preferences for additional findings from genomic testing

<p> Systemic lupus erythematosus is a lifelong health condition where a person’s immune system starts to attack their own body. As a result, many organs in the body become permanently damaged (including the skin, heart, kidneys and brain). This damage leads to a substantial quality of life burden, a lower ability to perform usual daily activities, and lower life expectancy compared with the general population. This burden is also very unequal across diverse groups of individuals. Most people affected are younger women, and more likely to be Aboriginal and Torres Strait Islander peoples (in Australia) and of Black African/Caribbean and South Asian descent (in the UK). </p> <p> There are only a couple of treatments available for people with lupus. When these treatments don’t work, the condition continues to cause damage and harm to patients. However, a new promising type of treatment (called CAR-T cell therapy) is starting to emerge. CAR-T cell therapy is a type of precision medicine that works by infusing modified immune cells to fight against a patient’s lupus. Healthcare systems in the UK and Australia have excellent experience of using CAR-T cell therapies for other health conditions. There is now a growing need to understand the value of CAR-T cell therapy for severe lifelong health conditions such as systemic lupus erythematosus. </p> <p> In this PhD, you will address this need with health economics methods. These methods are essential to guide health policy decisions globally, and the findings will have a positive impact to move these new treatments closer to benefiting people with lupus. You will be based at the Manchester Centre for Health Economics (The University of Manchester), and will have a 12-month research visit to the Economics of Genomics and Precision Medicine Unit (The University of Melbourne). You will be supervised by a world leading multi-disciplinary team of experts in the health economics of advanced cell therapies and lupus (Gavan), precision medicine (Payne, Goranitis) and doctors who test CAR-T cell therapies for cancer and lupus (Thistlethwaite, Parker). </p> <p> The PhD will be split into three projects. First, you will use data from an important national register of patients with lupus (called the BILAG-BR) to understand health outcomes (life expectancy and quality of life) for people who don’t respond well to treatments in current practice. Second, you will perform a discrete choice experiment to quantify people’s preferences for receiving a CAR-T cell therapy, and its likely uptake in routine care. Third, you will run an early model-based cost-effectiveness analysis of CAR-T cell therapy compared with standard of care to simulate the lifetime costs, health outcomes, and value for people with lupus. </p> <p> You will develop skills in research collaborations with patients and the public, health economic evaluation, statistical analysis of real-world patient data, quantitative preference elicitation, project management, and communicating with policymakers and clinical leaders. The findings will have a direct impact on improving the lives of people with lupus, by stimulating future treatments, informing service delivery, and guiding research and development strategies within the UK and Australia. </p> <p> <strong>Applications should include a cover letter outlining the applicant’s interest in the project and explaining how their skills, background, and experience make them a strong fit for this PhD.</strong> </p>

<p> The Economics of Genomics and Precision Medicine Unit and the Melbourne Health Economics at the University of Melbourne invites applications for a PhD scholar to contribute to a research project funded by the University of Melbourne and the University of Manchester Dr Isabel Clifton Cookson Scholars scheme. This PhD provides a unique opportunity to undertake impactful research in the economics of genomic medicine, and generate results that can influence genomic policy in Australia and internationally. </p> <p> Rare genetic conditions impose a significant health and economic burden on patients, their families, and healthcare systems. Although individually rare, over 10,000 such conditions have been identified to date, affecting more than 350 million people globally. Genomic medicine has a transformative potential for the diagnosis and clinical care of these rare and other more common conditions, such as breast cancer, where there is an established genetic basis. However, small patient populations, heterogeneity in how the conditions may present and develop and lack of long-term cost and outcome data are barriers to the sustainable and equitable translation of genomics. </p> <p> This PhD will explore how patient data collected routinely within clinical care can best be used to advance the way we assess value and value for money, and support policy makers to make evidence-informed decisions that help health systems, patients and families realise the value of genomic medicine. Through the application of different health economics methods, the PhD candidate will have a unique opportunity to work with real-world data of patients experiencing rare and more common conditions and generate evidence that can shape national genomic policy. </p> <p> The project is led by A/Prof Ilias Goranitis (Head of Economics of Genomics and Precision Medicine Unit, University of Melbourne) and Prof Zornitza Stark (Department of Paediatrics, University of Melbourne), and the project team is further comprised of leading experts in health economics of genomics from the University of Manchester (Dr Sean Gavan and Prof Katherine Payne). </p> <p> <strong>Applications should include a cover letter outlining the applicant’s interest in the project and explaining how their skills, background, and experience make them a strong fit for this PhD.</strong> </p>

<p> Personalising the early detection and prevention of cancer aims to reduce the significant cancer burden experienced by individuals and their families and reduce cancer-associated costs on the Australian healthcare system. The feasibility of a complex intervention called PERSONA (Precision prEvention of bReaSt and OvariaN cAncer) that delivers a multifactorial cancer risk assessment to the general population is being tested. Through this feasibility trial, young women from the general population will receive personalised breast and ovarian cancer risk information and tailored cancer prevention and early detection recommendations. The risk assessment and risk management recommendations will be delivered by their general practitioner with support from a genetic counsellor. The PhD will involve undertaking a health economic assessment of PERSONA to determine the value to the Australian health care system. </p> <p> <strong>Aims</strong> </p> <ol> <li>Assess the potential value of PERSONA using early economic and clinical evaluation methods to identify areas of high clinical impact and cost-effectiveness. </li> <li>Quantify resource needs and delivery costs at the health system level to inform scale-up planning and sustainability. </li> <li>Model cost-effectiveness and value thresholds for PERSONA across different population subgroups and implementation scenarios. </li> </ol> <p> <strong>Methods:</strong> </p> <p> 1.Early Health Technology Assessment </p> <ul> <li>Conduct a clinical gap analysis to identify where PERSONA offers the greatest incremental benefit relative to existing prevention programs. </li> <li>Develop a conceptual economic evaluation model integrating clinical effectiveness pathways, cost drivers, and potential population health gains. </li> <li>Apply economic model to explore cost-effectiveness and identify thresholds for uptake and effectiveness required for PERSONA to be a cost-effective and equitable prevention strategy. </li> <li>Provide early estimates of value for money and identify key data gaps to inform future trials and full economic evaluation. </li> </ul> <p> 2. Micro-Costing of Implementation Resources </p> <ul> <li>Perform a micro-costing analysis to capture real-world resource use at the service delivery level. </li> <li>Quantify personnel time, training needs, infrastructure, and workflow adjustments required to embed PERSONA within health service operations. </li> <li>Develop an implementation cost framework to support financial planning, sustainability, and scaling strategies. </li> </ul> <p> 3. Discrete Choice Experiments (DCEs) </p> <ul> <li>Design and administer DCEs to understand public and clinician preferences for program attributes (e.g., age targeting, delivery mode, risk thresholds). </li> <li>Combine DCE findings with feasibility study data and published evidence into cost-effectiveness models. </li> </ul>

Objective To assess the psychometric performance of the Child Health Utility (CHU9D) proxy version compared with the Pediatric Quality of Life Inventory (PedsQL) in Australian children aged 0–7 years ...

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