Public Health Genomics Research Articles

Success in public health genomics: beyond the ACCE criteria

In judging the future success of a field of activity such as public health genomics, the criteriawill tend to ‘layer-out’ into a microor finely detailed view, and a macro-view, one that takes in the big picture. To date professionals in the field have been strongly focused on judging the viability of new forms of genetic testing using the ACCE criteria (analytical and clinical criteria and ethical, legal and social considerations; http:// www.cdc.gov/genomics/gtesting/ACCE). This framework has been used to evaluate many categories of genetic tests, but cannot really be used to judge the field as awhole. Further, fundability of the field’s various assessment and educational efforts is important, but is more of an aim than a measure of success, and varies greatly with the funding climate. It is important that the field begin to distinguish itself in people’s minds and in what it does. Grant and article reviewers, and consumers, need to gain an appreciation that here is a field centred on conditions which strike large populations and not just single individuals, and that prioritizes the well-being of communities. Thus, public health is giving

Public health genomics and personalized prevention: lessons from the COGS project

Using the principles of public health genomics, we examined the opportunities and challenges of implementing personalized prevention programmes for cancer at the population level. Our model-based estimates indicate that polygenic risk stratification can potentially improve the effectiveness and cost-effectiveness of screening programmes. However, compared with ‘one-size-fits-all’ screening programmes, personalized screening adds further layers of complexity to the organization of screening services and raises ethical, legal and social challenges. Before polygenic inheritance is translated into population screening strategy, evidence from empirical research and engagement with and education of the public and the health professionals are needed.

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

Public health genomics and personalized healthcare

Rapid scientific advances and tools in genomics such as in the light of epigenomics, microbiomics, and systems biology supported by new ICT solutions not only contribute to the understanding of disease mechanisms but also provide the option of new promising applications in human health management during the whole life-course. What was a little time ago a vision for a new era of public health, in which advances from the -omic sciences would be integrated into strategies aiming at benefiting population health, is now responding to the very pressing need for the development of effective personalized health care, going even beyond personalized medicine based on a systems medicine approach.

From personalized to public health genomics

It is a sign of the times that most of the buzz around genomic medicine has more to do with personalized medicine than public health [1]. Th is is perhaps con sistent with the prevailing economic sentiment in developed countries that benefi ts accruing to the few gradually transfer to the majority. Healthy societies also take steps to ensure that there is equitable distribution of wealth, which should be construed to include much more than fiwellbeing. We can thus ask to what extent genomics can be used to improve the prospects of as many people as possible. For perspective, consider the public health benefi ts that are generally considered to have had the greatest impact globally. Rather than individualized treatments, these are things like access to fresh water, closed sewage systems, better knowledge of hygiene, widespread antibiotic usage, mosquito nets, and education of women. More recently, recording patients’ family medical history, the adoption of electronic medical records, and the trend toward standardization of medical care on the basis of evidence of effi cacy are all set to benefi t a large number of people, at least in developed countries. What are the genomic equivalents? Th e poster child for successful personalized genomics is the case of the Beery twins [2]. Diagnosed early in life with DOPA-responsive dystonia, but incompletely respon sive to dopamine therapy, the discovery of compound heterozygous mutations in their sepiapterin reductase gene led to supplementation with the serotonin precursor 5-hydroxytryptophan, which turned the twins’ lives around. Early adopters of whole-exome sequencing in the context of congenital pediatric defects, including ciliopathies, craniofacial abnormalities, primary immune defi ciencies and developmental delay, report impressive levels of success in identifying causal mutations, bringing peace of mind to parents and in some cases suggesting new medical interventions. And cancer treatment is already being reshaped by the deep sequencing of tumor genomes and transcriptomes, with the objective of identifying the most suitable chemotherapeutic targets in refractory cases [3]. Extraordinary and transformative as these achievements are, it is hard to imagine them directly benefi ting more than a minority - perhaps 5% - of the population. However, we can see fiways in which personal genomics may generalize to public health genomics. (1) Trickle-down genomics. No doubt the most likely development arising from personal genomics will be a gradual expansion of the number of people whose personal genomes become a part of their individualized treatment. Th e next frontier may be genomic risk assessment for adult-onset congenital decline, but we will also see the extension of health benefi ts from probands to family members. In this context, it is worth highlighting a recent report from 23andMe [4] that the discovery of BRCA1 or BRCA2 mutations in 32 people led to the detection of the mutations in 13 of 30 relatives of these people who chose follow-up evaluation, with an overall conversion of initial anxiety into positive outcomes.

‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

The objective of this study was to assess attitudes and opinions of women declining the offer of cystic fibrosis (CF) carrier screening through a population-based programme in Victoria, Australia. Between December 2009 and May 2011, women declining an offer of CF carrier screening were invited to participate in a questionnaire-based study. Recruitment was at two private obstetric ultrasound clinics and two private obstetric practices in Melbourne. Of the participants (n = 54), the majority were well educated (76%), aged 30-34years (54%), with a household income of >AUD$100,000 (76%). Compared to those who accepted screening (reported in a previous study) (Ioannou et al., Public Health Genomics 13:449-56, 2010), knowledge levels were significantly lower in participants declining screening (t = 3.32, p < 0.01). The main reasons for declining screening were having no family history of CF (58%) and not considering a termination of pregnancy for CF (53%). Providers and consumers should be informed that most children born with autosomal-recessive conditions such as CF have no family history of the condition.

The Role of Social Networking Sites in Medical Genetics Research

Social networking sites (SNS) have potential value in the field of medical genetics as a means of research subject recruitment and source of data. This article examines the current role of SNS in medical genetics research and potential applications for these sites in future studies. Facebook is the primary SNS considered, given the prevalence of its use in the United States and role in a small but growing number of studies. To date, utilization of SNS in medical genetics research has been primarily limited to three studies that recruited subjects from populations of Facebook users [McGuire et al. (2009); Am J Bioeth 9: 3-10; Janvier et al. (2012); Pediatrics 130: 293-298; Leighton et al. (2012); Public Health Genomics 15: 11-21]. These studies and a number of other medical and public health studies that have used Facebook as a context for recruiting research subjects are discussed. Approaches for Facebook-based subject recruitment are identified, including paid Facebook advertising, snowball sampling, targeted searching and posting. The use of these methods in medical genetics research has the potential to facilitate cost-effective research on both large, heterogeneous populations and small, hard-to-access sub-populations.

We screen newborns, don't we?: realizing the promise of public health genomics.

Genomics and public health have been uneasy bedfellows for some time. Most efforts to improve population health through genomic approaches have focused on the assessment of risks for common diseases, with the aim of tailoring interventions and screening.1 However, the improvement of population health through such an approach has remained elusive.2 Now, rapid progress in affordable, robust DNA sequencing offers a promising opportunity. By expanding the field’s focus from common to rare diseases, it may be possible to realize the promise of public health genomics by identifying those millions of individuals who unknowingly carry mutations that confer a dramatic predisposition to preventable diseases.

The policy of public health genomics in Italy

Italy has a monitoring system for genetic testing, consisting in a periodic census of clinical and laboratory activities performed in the country. The experience is limited, however, concerning the translation of genomic testing for complex diseases into clinical practice. For the first time the Italian Ministry of Health has introduced a policy strategic plan on genomics and predictive medicine within the 2010–2012 National Prevention Plan. This achievement was supported by the Italian Network for Public Health Genomics (GENISAP) and will likely contribute to the integration of public health genomics into health care in the country. Our experience might be of interest not only in Italy, but in other high-income countries, struggling to keep a healthy economy and healthy citizens.

Public Health Genomics – public health goes personalized

De snelle technologische en ICT ontwikkelingen in het genomics veld leiden er toe dat data en nieuwe inzichten uit het Human Genome Project (HGP) en het recente Personal Genome Project (PGP) de mogelijk hebben de gezondheidszorg op vele vlakken te vernieuwen met unieke taken voor het Public Health Genomics veld.1,2

Public health genomics

Het onderwerp public health genomics staat in de belangstelling. Het aantal internationale wetenschappelijke publicaties over dit onderwerp is de afgelopen jaren snel toegenomen en er is sinds een paar jaar zelfs een wetenschappelijk tijdschrift met de titel ‘Public health genomics’. In de Verenigde Staten en in Europa zijn instituten en netwerken ontstaan die zich richten op onderzoek en implementatie van public health genomics toepassingen. Ook in Nederland is toenemende aandacht voor public health genomics zichtbaar. Zo breidde de Nederlandse Associatie voor Community Genetics haar naam in 2008 uit met de toevoeging ‘en Public Health Genomics’. De Maastrichtse onderzoekschool CAPHRI kent bijvoorbeeld sinds 2008 een afdeling die zich met dit onderwerp bezighoudt en binnen het EMGOinstituut van het VU medisch centrum is al geruime tijd de interdisciplinaire onderzoeksgroep ‘Community genetics’ actief. Dit Spectrum gaat over public health genomics. De aanleiding hiervan is het verzoek van ZonMw aan het RIVM om een signalement over dit onderwerp te maken, waarin de stand van zaken met betrekking tot public health genomics en de kansen voor preventie in kaart worden gebracht.

Public Health Genomics

Public Health Genomics

Corrigendum to “Environmental exposure to dioxin-like compounds and the mortality risk in the U.S. population” [Int. J. Hyg. Environ. Health 215 (2012) 541–546

Department of Environmental and Occupational Health, University of North Texas Health Science Center, Fort Worth, TX 76107, United States Department of Integrative Physiology and Cardiovascular Research Institute, University of North Texas Health Science Center, Fort Worth, TX 76107, United States Department of Safety, Health and Environmental Engineering, National Kaohsiung First University of Science and Technology, Kaohsiung, Taiwan Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30333, United States Department of Epidemiology, University of North Texas Health Science Center, Fort Worth, TX 76107, United States Cardiovascular Center and Health Management Center, National Taiwan University Hospital Yun-Lin Branch, Dou-Liou City, Yun-Lin, Taiwan

What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report

Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public's understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from kindergarten to grade 12 to adult education. The role of the media in disseminating scientific messages and in perpetuating or reducing misconceptions was also discussed. Workshop participants agreed that genomic literacy will be achieved only through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

Functional Dynamics: From Biological Complexity to Translation and Impact in Healthcare Systems

Biological complexity at a molecular and physiological level is dynamically translucent and requires a systemwide computational approach to possibly elucidate underlying mechanisms for medical and public health applications. Functional dynamics is ideal to study molecular functions given biological functions are dependent on the dynamic nature of networks it operates within. However, environmental factors significantly affect the molecular dynamics in biology, which still needs to be incorporated in study of functions for medical applicability. Through technological innovation medicine is seeing a potential shift in demand for personalized interventions, which has not been fully realized yet. Also the applicability of functional dynamics’ utility seems not visible in healthcare systems. This article addresses the above mentioned issues, challenges in translation/implementation using the example of the “virtual patient” developed through the pilot EU flagship project ICT Future of Medicine, and provides possible solutions and insights of new and existing scientific data, infrastructures and frameworks like the Learning-Adapting-Leveling model to make it feasible including policy-wise by incorporating best practice guidelines developed through the Public Health Genomics European Network and tries to touch upon its consequential impact. As a result, we see that real time integration in healthcare requires early-on involvement of all stakeholders as well as taking into account health policy issues, which is addressed by the proposed Learning-Adapting-Leveling model and the best practice guidelines. Furthermore, environmental factors and exposome properties need to be taken into consideration, which the pilot ICT Future of Medicine has been taken into account. We now possibly see a shift from stratified medicine through personalized medicine and possibly towards individualized medicine. This coupling of the pilot project ICT Future of Medicine by integrating the Learning-Adapting-Leveling model to resolve real-time integration issues and considering policy-wise the best practice guidelines has set the stage for it to potentially revolutionize the healthcare system as a whole.

Evaluation of State Comprehensive Cancer Control Plans for Genomics Content

IntroductionComprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics.MethodsWe reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans.ResultsForty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding. ConclusionIncorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.

Mainstreaming Sex and Gender Analysis in Public Health Genomics

The integration of genome-based knowledge into public health or public health genomics (PHG) aims to contribute to disease prevention, health promotion, and risk reduction associated with genetic disease susceptibility. Men and women differ, for instance, in susceptibilities for heart disease, obesity, or depression due to biologic (sex) and sociocultural (gender) factors and their interaction. Genome-based knowledge is rapidly increasing, but sex and gender issues are often not explored. To explore the implications of a sex and gender analysis for PHG. We explore genome-based knowledge in relation to sex and gender aspects using depression as an example, gender equality, and the intersection of sex and gender with other social stratifiers such as ethnic background or socioeconomic status. We advocate a sex- and gender-sensitive genomics research agenda alongside studies that provide sex-disaggregated data rather than controls based on sex. Such a research agenda is needed to guide research on how genomics is understood and perceived by men and women across groups, and for the equitable and responsible translation of such knowledge into the public health domain. Including sex and gender analysis in PHG research will not only shed more light on phenomena such as diseases with a higher prevalence in either men or women, but will ultimately lead to gendered innovations by way of exploring how gendered and cultural environments increase or safeguard genetic predispositions.

Genetic and epigenetic interactions in adaptive thermogenesis pathways in association with obesity from a Public Health Genomics perspective

Background: studying and apprehending the pathways and mechanisms by which overweight and obesity trigger complex disease progression is of prime importance for the development of therapy and prevention measures of this major public health burden. This review describes Single Nucleotide Polymorphisms (SNPs) and epigenetic methylation as well as histone modification in genes with relevance in adaptive thermogenesis and their possible role in the development of obesity. Epigenetic marks are discussed as solid biomarkers for gene-environment interactions. Methods: a PubMed search on genetic and epigenetic variation of genes involved in adaptive thermogenesis was performed. The search included English publications between December 1996 and July 2010 reporting associations between SNPs and obesity in Caucasians. The search on epigenetic regulation was limited to DNA methylation and histone modifications. Genes that were found to be associated with the adaptive thermogenesis pathway included beta-3 adrenergic receptor (ADRB3), uncoupling protein 1 (UCP1), the transcription factors peroxisome proliferated activator receptor gamma (PPARγ), peroxisome proliferated activator receptor gamma co-activator 1 alpha (PGC1α), retinoid acid X receptor alpha (RXRα), CCAAT/enhancer-binding protein alpha (C/EBPα), fatty acid binding protein 4 (FABP4) and lipoprotein lipase (LPL). Results: epigenetic studies are mainly discovery orientated and do not test hypotheses. However, SNPs as well as epigenetic mechanisms seem to regulate obesity and adaptive thermogenesis whereas genetic association studies are inconsistent. Conclusions: the aim of this work was to confirm evidences on the contribution of genetic variations as well as epigenetic regulatory mechanisms of genes associated to obesity. The integration of epigenetic markers in epidemiologic research could help to unravel multi gene-environment interactions. With this article we show the importance to introduce aspects of the epigenetic regulation in the assessment of obesity: We also discuss the benefits of including epigenomics as an integrative way to account for an individual’s environmental impact in public health policies.

Public Health Genomics and Personalized Healthcare: a pipeline from cell to society

Article Public Health Genomics and Personalized Healthcare: a pipeline from cell to society was published on August 1, 2012 in the journal Drug Metabolism and Personalized Therapy (volume 27, issue 3).

Novel Diagnostics R&amp;D for Public Health and Personalized Medicine in Taiwan: Current State, Challenges and Opportunities

Novel diagnostics R&D in public health and personalized medicine hold great promise as tools to speed up the translation of results from bench to bedside for selecting and optimizing treatment and health outcomes for each person. Although the integration of individualized medicine into clinical decision making is still evolving, accumulating evidence reveals that genetic and genomic information could help predict clinical drug response and adverse drug reactions for drugs in patients with certain diseases. This article first gives a brief overview of selected diagnostics R&D studies in Taiwan for antipsychotic treatments, antidepressant responsiveness, sibutramine therapy, chronic hepatitis C therapy, and other various treatments of significance for public health in Taiwan, with consideration of genetic and genomic variants. For example, the interactions of two insulin-induced gene (INSIG) biomarkers, designated INSIG1 and INSIG2, were found to be associated with metabolic syndrome in schizophrenic patients treated with antipsychotics. Recent advances in pharmacogenomics and personalized medicine studies conducted in Taiwanese populations and attendant novel computational approaches are highlighted here, with a view to public and population health in the country and the Asia- Pacific region where there are extensive investments in genomics and postgenomics diagnostics R&D. Finally, we address a discussion of future directions and some of the most pressing computational challenges in data-intensive life sciences owing to the combinatorial explosion of ever larger data sets. Anticipating and addressing these emerging issues in public health genomics are of great relevance not only for Taiwan but also for the Asia-Pacific and global health. Keywords: Antipsychotics, bioinformatics, computational biology, data-intensive life sciences, gene–gene interaction, novel diagnostics, personalized medicine, pharmacogenomics.