Public Health Genomics Research Articles

Public Health Genomics (PHG) and Public Participation: Points to Consider

Large-scale population biobanks, which aim to collect biological tissues, personal health information, and genomic data, are being introduced worldwide with the promise of increasing knowledge on chronic diseases such as diabetes and heart disease. Experts recognize the need for public participation to address the many social, legal and ethical complexities raised by the introduction of biobanks for public health research. However many researchers and decision makers struggle with how to promote public participation. This paper presents six issues that public participation must address. These issues are then applied to three large scale genetic biobank projects: CARTaGENE, Generation Scotland, and the United Kingdom Biobank. Finally, the efforts of these biobanks will be compared to the British Columbia Biobank deliberation project, which implemented a deliberative public participation experiment on biobanking.

Book Review: Public Health Genomics: The Essentials

Book Review: Public Health Genomics: The Essentials

An everlasting role of genetics and genomics in public health: a meeting report of ACGA-HKSMG International Conference on Genetic and Genomic Medicine 2008

An everlasting role of genetics and genomics in public health: a meeting report of ACGA-HKSMG International Conference on Genetic and Genomic Medicine 2008

Testing challenges: evaluation of novel diagnostics and molecular biomarkers

Through the lens of public health genomics, this article probes certain issues that concern the evaluation of diagnostic tests and molecular biomarkers, and the accompanying policy and regulatory implications. It begins with some conceptual remarks followed by a discussion of evaluation, translation, and regulation, and their importance for public health.

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative, established by the National Office of Public Health Genomics at the Centers for Disease Control and Prevention, supports the development and implementation of a rigorous, evidence-based process for evaluating genetic tests and other genomic applications for clinical and public health practice in the United States. An independent, non-federal EGAPP Working Group (EWG), a multidisciplinary expert panel selects topics, oversees the systematic review of evidence, and makes recommendations based on that evidence. This article describes the EGAPP processes and details the specific methods and approaches used by the EWG.

Public Health Genomics: Translating Obesity Genomics Research Into Population Health Benefits

We examine how a public health genomics framework can be used to move genomic discoveries into clinical and public health practice for obesity prevention and treatment. There are four phases of translational research: T1: discovery to candidate health application; T2: health application to evidence-based practice guidelines; T3: practice guidelines to health practice; and T4: practice to population health impact. Types of multidisciplinary research and knowledge synthesis needed for each phase, as well as the importance of developing and disseminating evidence-based guidelines, are discussed. Because obesity genomics research is mostly in the discovery phase or in the very early phases of translation (T1), the authors present this framework to illustrate the range of translation activities needed to move genomic discoveries in obesity to actual applications that reduce the burden of obesity at the population level.

Gene‐Nutrition and Gene‐Physical Activity Interactions in the Etiology of Obesity

Gene‐Nutrition and Gene‐Physical Activity Interactions in the Etiology of Obesity

The Pharmacogenomics Horizon

The Pharmacogenomics Horizon

Book review

American Journal of Medical Genetics Part AVolume 146A, Issue 23 p. 3113-3114 Book Review Book review†‡ Muin J. Khoury, Muin J. Khoury muk1@cdc.gov National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaSearch for more papers by this author Muin J. Khoury, Muin J. Khoury muk1@cdc.gov National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaSearch for more papers by this author First published: 12 November 2008 https://doi.org/10.1002/ajmg.a.32571 † The findings and conclusions of this report are those of the author and do not necessarily represent the official position of the Centers for Disease Control and Prevention. ‡ How to cite this article: Khoury MJ. 2008. Book review. Am J Med Genet Part A 146A:3113–3114. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume146A, Issue231 December 2008Pages 3113-3114 RelatedInformation

The integration of genome-based information for common diseases into health policy and healthcare as a major challenge for Public Health Genomics: The example of the methylenetetrahydrofolate reductase gene in non-cancer diseases

Whereas medicine is currently undergoing remarkable developments from its morphological and phenotype orientation to a molecular and genotype orientation, promoting the importance of prognosis and prediction, the discussion about the role of genome-based information for epidemiological research and public health still is at the beginning. Public Health Genomics (PHG) contributes to this discussion by focussing on the use of genome-based information for epidemiological research, surveillance systems, health policy development, individual health information management and effective health services. The article focuses on the role of the methylenetetrahydrofolate reductase ( MTHFR) gene polymorphisms in non-cancer diseases to demonstrate the urgent need for a responsible and systematic translation of genome-based information into health policy and healthcare.

Guidance for considering ethical, legal, and social issues in health technology assessment: Application to genetic screening

Many authors have argued that ethical, legal, and social issues ("ELSIs") should be explicitly integrated into health technology assessment (HTA), yet doing so poses challenges. This discussion may be particularly salient for technologies viewed as ethically complex, such as genetic screening. Here we provide a brief overview of contemporary discussions of the issues from the HTA literature. We then describe key existing policy evaluation frameworks in the fields of disease screening and public health genomics. Finally, we map the insights from the HTA literature to the policy evaluation frameworks, with discussion of the implications for HTA in genetic screening. A critical discussion in the HTA literature considers the definition of ELSIs in HTA, highlighting the importance of thinking beyond ELSIs as impacts of technology. Existing HTA guidance on integrating ELSIs relates to three broad approaches: literature synthesis, involvement of experts, and consideration of stakeholder values. The thirteen key policy evaluation frameworks relating to disease screening and public health genomics identified a range of ELSIs relevant to genetic screening. Beyond straightforward impacts of screening, these ELSIs require consideration of factors such as the social and political context surrounding policy decisions. The three broad approaches to addressing ELSIs described above are apparent in the screening/genomics literatures. In integrating these findings we suggest that the method chosen for addressing ELSIs in HTA for genetic screening may determine which ELSIs are prioritized; and that an important challenge is the lack of guidance for evaluating such methods.

Genomics, public health and developing countries: the case of the Mexican National Institute of Genomic Medicine (INMEGEN)

In 2004, the government of Mexico established the National Institute of Genomic Medicine (INMEGEN), to carry out disease-related genomic studies that will address national health problems and stimulate scientific and technological development by generating new commercial products and services in genomic medicine. Towards this end, INMEGEN is carrying out a large-scale genotyping project to map genomic variation within its own population. The initiative is expected to generate a key resource for local researchers to understand disease susceptibility and variation in drug responses, which will contribute to Mexico's goal of developing public health genomics - a field in which Mexico is proving to be a leader amongst emerging economies.

US Health Educators’ Likelihood of Adopting Genomic Competencies Into Health Promotion

We examined US health educators' likelihood of adopting genomic competencies--specific skills and knowledge in public health genomics--into health promotion and the factors influencing such likelihood. We developed and tested a model to assess likelihood to adopt genomic competencies. Data from 1607 health educators nationwide were collected through a Web-based survey. The model was tested through structural equation modeling. Although participants in our study were not very likely to adopt genomic competencies into their practice, the data supported the proposed model. Awareness, attitudes, and self-efficacy significantly affected health educators' likelihood to incorporate genomic competencies. The model explained 60.3% of the variance in likelihood to incorporate genomic competencies. Participants' perceived compatibility between public health genomics and their professional and personal roles, their perceptions of genomics as complex, and the communication channels used to learn about public health genomics significantly related to genomic knowledge and attitudes. Because US health educators in our sample do not appear ready for their professional role in genomics, future research and public health work-force training are needed.

Ethical Practices for Health Research in the Eastern Mediterranean Region of the World Health Organization: A Retrospective Data Analysis

BackgroundCommentators have expressed concern regarding the existence of proper ethics review systems in developing countries. Our aim is to explore the extent with which investigators from countries in the Eastern Mediterranean (EM) Region consider several ethical practices in the conduct of their research.Methodology/Principal FindingsInvestigators from 12 countries in the EM region submitted 143 proposals involving Public Health and Biotechnology & Genomics to a grant scheme funded by the Eastern Mediterranean Regional Office of the WHO and the Organization of Islamic Conference Standing Committee for Science and Technological Cooperation in 2006. The grant application included a 1-page questionnaire that asked investigators 1) whether ethical clearance was obtained, 2) whether they plan to obtain informed consent, and 3) whether confidentiality of human subject data would be ensured. The methodologies of the submitted researches were categorized as to whether it involved 1) human subject research (e.g., the prospective collection of biological specimens or the performance of qualitative research), 2) research that could be exempt from ongoing ethics review, and 3) research not involving human subjects. A descriptive analysis was used to analyze the investigators' responses and a chi-square analysis was used to analyze categorical variables. Of the 79 submitted proposals determined to involve “human subjects”, ethical clearance was not obtained in 29%; investigators thought that informed consent was not needed in 29%; and investigators did not mention that they would ensure confidentiality of the obtained data in 8% of the studies. The magnitude of these deficiencies was similar regardless of study design type, i.e., prospective collection of biological samples and qualitative research methods.Conclusion/SignificanceThese results suggest that attention to ethical safeguards is not optimal among investigators in the EM Region. Further guidelines for strengthening ethical review systems, as well as enhanced educational training in concepts of research ethics for investigators are warranted in this region.

Integrating Anticipated Nutrigenomics Bioscience Applications with Ethical Aspects

Nutrigenomics is a subspecialty of nutrition science which aims to understand how gene-diet interactions influence individuals' response to food, disease susceptibility, and population health. Yet ethical enquiry into this field is being outpaced by nutrigenomics bioscience. The ethical issues surrounding nutrigenomics face the challenges of a rapidly evolving field which bring forward the additional dimension of crossdisciplinary integrative research between social and biomedical sciences. This article outlines the emerging nutrigenomics definitions and concepts and analyzes the existing ethics literature concerning personalized nutrition and presents "points to consider" over ethical issues regarding future nutrigenomics applications. The interest in nutrigenomics coincides with a shift in emphasis in medicine and biosciences toward prevention of future disease susceptibilities rather than treatment of already established disease. Hence, unique ethical issues emerge concerning the extent to which nutrigenomics can alter our relation to food, boundaries between health and disease, and the folklore of medical practice. Nutrigenomics can result in new social values, norms, and responsibilities for both individuals and societies. Nutrigenomics is not only another new application of "-omics" technologies in the context of gene-diet interactions. Nutrigenomics may fundamentally change the way we perceive human illness while shifting the focus and broadening the scope of health interventions from patients to healthy individuals. In resource- and time-limited healthcare settings, this creates unique ethical dilemmas and distributive justice issues. Ethical aspects of nutrigenomics applications should be addressed proactively, as this new science develops and increasingly coalesces with other applications of genomics in medicine and public health.

Letting the Genome out of the Bottle — Will We Get Our Wish?

A patient shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). What should you do? Drs. David Hunter, Muin Khoury, and Jeffrey Drazen discuss the analytic and clinical validity of personal genomics testing. Dr. Muin Khoury discusses the technology behind the personal genomics testing services that are being offered directly to consumers and the limitations in the information they provide. Dr. Khoury is the director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention.

Public Health Genomics (PHG): From Scientific Considerations to Ethical Integration

Recent advances in our understanding of the human genome have raised high hopes for the creation of personalized medicine able to predict diseases well before they occur, or that will lead to individualized and therefore more effective treatments. This possibility of a more accurate science of the prevention and surveillance of disease also illuminates the field of public health, where the translation of genomic knowledge could provide tools enhancing the capacity of public health authorities to promote health and prevent diseases. But beyond scientific considerations, the use of genomics in public health research and interventions gives rise to several ethical and social issues of great importance. Considering the impact that PHG could have on the future of public health while still paying attention to the uncertainty surrounding the use of genomic databases for the benefit of populations, this article seeks to explore the promise of genomics in public health and the ethical issues that emerge from its application.

Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors

This statement summarizes the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group recommendations regarding CYP450 genetic testing in adult patients beginning treatment with selective serotonin reuptake inhibitors (SSRIs), and the supporting scientific evidence. EGAPP is a project developed by the National Office of Public Health Genomics at the Centers for Disease Control and Prevention to support a rigorous, evidence-based process for evaluating genetic tests and other genomic applications that are in transition from research to clinical and public health practice in the United States. A key goal of the EGAPP Working Group is to develop conclusions and recommendations regarding clinical genomic applications and to establish clear linkage to the supporting scientific evidence. The Working Group members are nonfederal experts in genetics, laboratory medicine, and clinical epidemiology convened to establish methods and processes; set priorities for review topics; participate in technical expert panels for commissioned evidence reviews; publish recommendations; and provide guidance and feedback on other project activities.Summary of Recommendation The EGAPP Working Group found insufficient evidence to support a recommendation for or against use of CYP450 testing in adults beginning SSRI treatment for non-psychotic depression. In the absence of supporting evidence, and with consideration of other contextual issues, EGAPP discourages use of CYP450 testing for patients beginning SSRI treatment until further clinical trials are completed. RationaleThe EGAPP Working Group found no evidence linking testing for CYP450 to clinical outcomes in adults treated with SSRIs. While some studies of a single SSRI dose in healthy patients report an association between genotypic CYP450 drug metabolizer status and circulating SSRI levels, this association was not supported by studies of patients receiving ongoing SSRI treatment. Further, CYP450 genotypes are not consistently associated with the patient outcomes of interest, including clinical response to SSRI treatment or adverse events as a result of treatment. No evidence was available showing that the results of CYP450 testing influenced SSRI choice or dose and improved patient outcomes, or was useful in medical, personal, or public health decision-making. In the absence of evidence supporting clinical utility, it is not known if potential benefits from CYP450 testing will outweigh potential harms. Potential harms may include increased cost without impact on clinical decision making or improvement in patient outcomes, less effective treatment with SSRI drugs, or inappropriate use of genotype information in the management of other drugs metabolized by CYP450 enzymes.

Anticipating dissemination of cancer genomics in public health: A theoretical approach to psychosocial and behavioral challenges

Given the recent sequencing of the human genome, genetic susceptibility information will probably be increasingly useful in the prevention and control of many common diseases, including cancer. Although much is known about psychosocial factors related to the impact of cancer genetic testing among high-risk families in specialized clinic settings, much less is known about how genetic susceptibility information may contribute to the health and well-being of the general population. We present a theoretical synthesis drawn from the health communication and health behavior change traditions to guide research examining psychosocial and behavioral challenges central to dissemination of cancer genomics in public health. These challenges include (a) anticipating individuals' reactions to receiving genetic information that is probabilistic and derived from multiple sources; (b) modeling the influence of public communication about genetics on the population; (c) confronting the need to disseminate cancer genomic information through public health channels; and (d) maximizing opportunities to achieve cancer risk reduction across individuals, families, and local environments. Throughout the article, we use melanoma genomics as an example of the issues requiring attention. We hope the model helps shape the psychosocial and behavioral research agenda concerning the impact of cancer genomics outside the high-risk clinic.

Defining purpose: a key step in genetic test evaluation

The introduction of new genetic tests, like other medical innovations, can be conceptualized as a three-step process. Tests are proposed for use based on research findings and clinical reasoning; an evaluation occurs; and judgments are made about clinical use and reimbursement (Fig. 1). The evaluation may be informal, as when a clinician determines whether a new test will be helpful in a particular patient encounter, or formal, as when a practice guideline panel utilizes a defined methodology to assess a test or a health care funder utilizes a set of criteria to determine test coverage. Although genetic tests are often described in terms of technology, a full evaluation requires that the test be considered as a clinical process in which the laboratory assay, or other testing procedure, is done to acquire information about a particular health condition, in a defined population, for a specific clinical purpose.1 Genetic tests have a wide range of health care applications. They are used to confirm the presence of a genetic condition, identify reproductive risks, and select preventive therapy. Testing occurs in newborn screening programs and in primary, specialty, and prenatal care, and may be initiated on the basis of clinical symptoms, family history, or population demographics. Genetic tests also utilize a range of technologies, and vary considerably in their predictive value. This diversity poses a challenge for the evaluation process. Several groups have considered methods for genetic test evaluation,2–5 and model programs for systematic evaluation have been established in the United States (Evaluation of Genomic Applications in Practice and Prevention6) and the UK (the UK Genetic Testing Network7). To date, however, the evaluation process has not fully addressed the clinical diversity of genetic tests. The Evaluation of Genomic Applications in Practice and Prevention project has focused on genetic tests related to common disorders and drug therapy, whereas the United Kingdom Genetic Testing Network has primarily addressed tests for single gene disorders. An effort by the Secretary’s Advisory Committee on Genetic Testing to categorize genetic tests into those requiring higher versus lower levels of scrutiny was not successful.8 To address the challenge of genetic test diversity, we propose an outcome-orientated taxonomy for defining test purpose. A focus on health outcomes allows the definition of a small and informative set of purposes for genetic testing, despite the range of technologies and clinical settings in which testing occurs. Defining test purpose in turn clarifies the benefits to be expected from the testing process, and provides guidance to clinicians and policy makers concerning the evidence needed to support test use. Defining test purpose, therefore, is an important first step in genetic test evaluation.