It is now possible to test individuals to assess their cystic fibrosis gene carrier status and a range of strategies for screening the population have been piloted. The objective of this research was to develop a plan...
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It is now possible to test individuals to assess their cystic fibrosis gene carrier status and a range of strategies for screening the population have been piloted. The objective of this research was to develop a planning framework which health care planners and purchasers can use to assess the overall quantifiable outcomes and direct costs resulting from a year of alternative screening strategies and the ways costs and outcomes evolve over time. Beyond broader ethical and clinical considerations the information provided by such a framework is needed to support decisions surrounding the development of screening programmes. Operational Research modelling techniques were used to develop the planning framework. To help illustrate the framework it was then used to assess the quantifiable outcomes and direct costs of three of the main alternative screening strategies: From antenatal clinics, ‘2-step’ screening where females are tested first followed by a screening invitation to the partners of female carriers, and ‘couple’ screening where both partners must agree to be tested at the outset;and from primary practice clinics ‘active’ contact of attenders. Quantifiable outcomes are defined as the number of individuals informed of their carrier status and the number of carriers, carrier couples, and affected fetuses detected. Direct costs are those associated with the recruitment and testing of individuals and the subsequent counselling of any gene carriers or carrier couples identified. Results are based on services for a resident population of 250 000 at two time points, year one and a year at ‘steady state’. The resultant framework estimates the number of individuals tested using data on the size of the target population, the proportion of that population alerted to the screening service, and the proportion who agree to be tested when approached. Given service users, prevalence data are used to assess service outcomes. Given the number of individuals approached and the su
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