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Building a Tool to Evaluate and Improve Health Investments in Screening and Diagnosis of disease

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Guidelines for evaluating genetic tests

Genetic tests used for screening and diagnosis of disease have become more common and have the potential to considerably improve patient outcomes and quality of life. Researchers have recently developed a toolkit that can be used to fully evaluate the impact of new genetic tests in the health care system.

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Health technology assessment (HTA) is an evidence-based approach used to assess clinical, economic, ethical, social and organisational aspects of new clinical methods and techniques by means of well-established guidelines. For genetic testing in clinics, however, HTA guidelines are lacking. For this reason, the EU funded a project entitled 'Building a tool to evaluate and improve health investments in screening and diagnosis of disease' (HISCREENDIAG). The main objective was the construction of a tool to evaluate the potential impact of investments in genetic screening and diagnostic tests in areas of public health. Researchers used surveys and interviews to investigate the current state of health investments across the EU in relation to genetic testing and with a focus on common tests. Evaluation processes, tools and criteria were found to be scattered or non-existent, and a common decision-making tool is, yet, not available. Using the tenets of HTA, as well as evidence gathered from the literature and surveys, researchers designed a comprehensive new toolkit consisting on procedures, guidelines and criteria. The toolkit was refined through stakeholder workshops, resulting in an evidence-based tool that will be useful for evaluating genetic tests for clinical use in the future. The HISCREENDIAG project has thus created an objective framework for evaluation, with decision-making tools for health investments standardised across the EU.

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