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Beyond public health genomics: proposals from an international working group

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TLDR
Issues were explored in January 2014 at the inaugural meeting of an international working group on ‘Beyond Public Health Genomics’, convening leading experts in genomics, public health, clinical sciences, systems medicine, law and bioethics, from many disciplines and countries.
Abstract
Advances in genomics have crucial implications for public health, offering new ways of differentiating individuals and groups within populations that go beyond the measures normally used by public health professionals, such as gender, age, socio-economic status, physiological measurements or clinical biomarkers.1 While public health has traditionally been concerned with interventions at a population level, genomic medicine seems to promote a vision for health care that encourages individualism rather than collectivism.2 This tension is apparent in weighing up its consequences. Thus, it may bring benefits in stratifying individuals according to genetic risk, enabling better targeting of preventive and therapeutic interventions. But it may also have harmful consequences undermining the imperative to tackle social and environmental determinants of disease and the collective provision of health care potentially leading to overdiagnosis/overtreatment; it may fragment the risk pooling that underpins social solidarity; and it may increase the probability of stigmatization and discrimination. Consequently, 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. These issues were explored in January 2014 at the inaugural meeting of an international working group on ‘Beyond Public Health Genomics’, convening leading experts in genomics, public health, clinical sciences, systems medicine, law and bioethics, from many disciplines and countries, at the Universita Cattolica del Sacro Cuore in Rome. Its goal, inspired by the 2005 Bellagio statement on public health genomics, defined as the ‘responsible and effective translation of genome-based discovery into population health,3 was to generate high value-based proposals to foster the evidence base for implementing genomic discoveries in public health policy and practice, and to ensure necessary action while accounting for the challenge of needing to fund these workstreams in the current environment of diminishing resources. The contribution of genomics to …

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Citations
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A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.

TL;DR: Several pioneer applications of NGS are discussed, scientific discoveries for rare and complex diseases are summarized, and various study designs including targeted sequencing and whole-genome sequencing using population-based and family-based cohorts are compared.
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The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.

TL;DR: The history that led to the emergence of public health genomics as a distinguishable field is outlined and a range of activities are described that illustrate how genomics can be incorporated into public health practice.
Journal ArticleDOI

Direct-to-Consumer Genetic Testing: A Systematic Review of European Guidelines, Recommendations, and Position Statements

TL;DR: Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.
Journal ArticleDOI

New challenges of public health: bringing the future of personalised healthcare into focus.

TL;DR: Six main prerequisites for radical change in healthcare are presented, that include achieving better genetic literacy for professionals and for the public, and adopting and adapting the Health Technology Assessment framework for the evaluation of the new technologies.
Journal ArticleDOI

Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers

TL;DR: A survey on existing national genomic policies in healthcare among Chief Medical Officers of the 28 EU member states, plus Norway suggests a need for a co-ordinated effort to foster development and harmonization of dedicated policies across EU to responsibly integrate genomics policies into existing health systems.
References
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Journal ArticleDOI

The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?

TL;DR: A framework for the continuum of multidisciplinary translation research that builds on previous characterization efforts in genomics and other areas in health care and prevention is presented and the types of translation research can overlap and provide feedback loops to allow integration of new knowledge.
Journal ArticleDOI

Effects of communicating DNA‐based disease risk estimates on risk‐reducing behaviours

TL;DR: The results of this review suggest that communicating DNA-based disease risk estimates has little or no effect on smoking and physical activity and claims that claims that the risk could plausibly be reduced by behavioural change are not supported by better intentions.
Journal ArticleDOI

The path from genome-based research to population health: Development of an international public health genomics network

TL;DR: A new era of individualized disease prevention based on testing for genetic susceptibilities and safer, more effective use of drugs based on pharmacogenomic testing is predicted.
Journal ArticleDOI

Whole-genome sequencing in newborn screening programs.

TL;DR: This Commentary raises key ethical, legal, and social issues surrounding WGS in NBS and suggests a need for deliberation regarding the policy challenges of introducing sequencing in such programs.
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