Predictive genetic testing for complex diseases: a public health perspective.
From a public health perspective, systematic, evidence-based technology assessments and economic evaluations are needed to guide the incorporation of genomics into clinical and public health practice. However, scientific evidence on the effectiveness of predictive genetic tests is difficult to obtain. This review first highlights the similarities and differences between traditional screening tests and predictive genetic testing for complex diseases and goes on to describe frameworks for the evaluation of genetic testing that have been developed in recent years providing some evidence that currently genetic tests are not used in an appropriate way. Nevertheless, evidence-based recommendations are already available for some genomic applications that can reduce morbidity and mortality and many more are expected to emerge over the next decade. The time is now ripe for the introduction of a range of genetic tests into healthcare practice, but this will require the development of specific health policies, proper public health evaluations, organizational changes within the healthcare systems, capacity building among the healthcare workforce and the education of the public.
Department of Public Health and Infectious Diseases, Sapienza University of Rome, Piazzale Aldo Moro 5, Rome, 00185, Italy. paolo.villari@uniroma1.it.
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Marzuillo
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Villari
D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics; D006801:Humans; D011634:Public Health / Q000379:methods*; D013673:Technology Assessment, Biomedical / Q000379:methods