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Translation of Genomic Results into Public Health Practice

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The “genomic revolution” is already transforming science, especially medicine. Genomic medicine has captured the interest and enthusiasm of not only the researchers, but also the public and resulted in the creation of both realistic and unrealistic expectations. Among these expectations using genomic ...

The “genomic revolution” is already transforming science, especially medicine. Genomic medicine has captured the interest and enthusiasm of not only the researchers, but also the public and resulted in the creation of both realistic and unrealistic expectations. Among these expectations using genomic information for the benefit of population health is the most obvious. “The public health community, with its commitment to equity, must take the opportunity to engage with genomic knowledge, ensuring that it advances the population’s health.”- as it is stated by the expert group releasing the Rome Declaration “Beyond public health genomics” (Boccia et al: Eur. J. Public Health, 24: 876–878, 2014). Public health genomics (PHG) focuses on the translation of genome-based knowledge and technologies into public policy, disease prevention and the improvement of population health, but translation of genomic findings to public health applications raise a lot of questions unanswered yet. Among these questions those related to screening (one of the most important – if not the most important – public health operations) at individual and population levels have special importance. Recent advances in new-born screening, as well as in screening of groups at high risk for certain diseases open new vistas in disease prevention, but ways in which our emerging understanding in these fields could guide future interventions and research efforts in public health are not clearly identified. Various ethical, legal, and social issues – among them policies to regulate access to personal genomic information, how to improve genetic literacy in both health professionals and the public, how to ensure that benefits of genomic discoveries are equitably distributed – are also posed by recent developments in public health genomics. In order to overview and to follow up the recent advances in genetic disorders and diseases associated with genetic alterations the design of the genetic testing, screening and monitoring systems should be revisited and improved making the genetic aspects more visible.

In the framework of the Research Topic papers will focus on the quality assurance and improvement of genetic testing, development guidelines to the proper use of genetic tests, translation of findings in pharmacogenomics into practice, as well as on barriers and facilitating factors for implementation of genetic services. In addition, the dilemma of how should the public health system deal with the challenges of public health genomics in personalized prevention and healthcare will also be discussed.


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