Results from numerous linkage and association studies have greatly deepened scientists’ understanding of the genetic basis of many human diseases, yet some important questions remain unanswered. For example, although a large number of disease-associated loci have been identified from genome-wide association studies (GWAS) in the past 10 years, it is challenging to interpret these results as most disease-associated markers have no clear functional roles in disease etiology, and all the identified genomic factors only explain a small portion of disease heritability. With the help of next-generation sequencing (NGS), diverse types of genomic and epigenetic variations can be detected with high accuracy. More importantly, instead of using linkage disequilibrium to detect association signals based on a set of pre-set probes, NGS allows researchers to directly study all the variants in each individual, therefore promises opportunities for identifying functional variants and a more comprehensive dissection of disease heritability. Although the current scale of NGS studies is still limited due to the high cost, the success of several recent studies suggests the great potential for applying NGS in genomic epidemiology, especially as the cost of sequencing continues to drop. In this review, we discuss several pioneer applications of NGS, summarize scientific discoveries for rare and complex diseases, and compare various study designs including targeted sequencing and whole-genome sequencing using population-based and family-based cohorts. Finally, we highlight recent advancements in statistical methods proposed for sequencing analysis, including group-based association tests, meta-analysis techniques, and annotation tools for variant prioritization.

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

Public health genomics has evolved to responsibly integrate advancements in genomics into the fields of personalized medicine and public health. Appropriate, effective and sustainable integration of genomics into healthcare requires an organized approach. This paper outlines the history that led to the emergence of public health genomics as a distinguishable field. In addition, a range of activities are described that illustrate how genomics can be incorporated into public health practice. Finally, it presents the evolution of public health genomics into the new era of "precision public health."

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The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.

Background: Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT). Objectives: The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations. Methods: We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe. Results: Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of ...

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

The greater personalization of healthcare represents a driver of innovation for research, and for the healthcare systems and industries as a whole. Still policy-makers, healthcare professionals, citizens and private companies need to take some steps to realize the potential for such a radical shift. In this paper, we illustrate the challenges, the benefits and consequences that might accompany the implementation of personalized healthcare, and the steps that policy-makers and practitioners would need to take to realise its potential. Six main prerequisites for radical change in healthcare are presented, that include achieving better genetic literacy for professionals and for the public; engaging citizen in the discourse; improved governance, consent and trust in healthcare; feeding and harnessing the data-knowledge cycle for better health; adopting and adapting the Health Technology Assessment framework for the evaluation of the new technologies; and retaining humanity and community in health and care. Some of these concepts originate from a discussion on the future of health and healthcare, looking at least 15-20 years into the future, that we had at the end of 2016 at Ickworth with an international group of experts, under the aegis of the PHG Foundation.

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

Background: A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. Methods: A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014. The survey was closed in November 2015. Results: CMOs response rate was 65.5% (19/29). Twelve (63.2%) reported that their countries had a policy for genomics in healthcare in place, and 15 (78.9%) reported that public funding existed. Public research facilities for the development of such policies were documented in 13 (68.4%) countries, and 15 (83.3%) had working groups devoted to policy development. National agencies carrying out Health Technology Assessment of genomic-based technologies were present in nine countries (50%). Sixteen (88.9%) countries reported having agencies dealing with ethical issues related to genomic technologies. About 55% of countries disclosed the lack of information campaigns aimed at citizens, and 44.4% reported they had a legal framework for direct-to-consumer genetic tests. Conclusion: Belgium, France, Italy, Spain and UK documented the presence of a policy on genomics in healthcare. While many caveats are necessary because of the methodology, results suggest 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.

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

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 …

Martina C. Cornel

Papers

Beyond public health genomics: proposals from an international working group