Public Health Genetics Research Articles

Subtyping of bacterial foodborne pathogens.

Phenotype-based and DNA-based subtyping methods allow for differentiation of bacterial isolates beyond the species and subspecies level. Bacterial subtyping methods not only have improved our ability to detect and track foodbome disease outbreaks, but also represent tools to track sources of bacterial contamination throughout the food system. The use of subtyping methods furthermore provides an opportunity to better understand the population genetics, epidemiology, and ecology of different foodbome pathogens. The last 5 years have seen tremendous advancement in the development of sensitive, rapid, automated, and increasingly easy-to-use molecular subtyping methods for a variety of different bacterial foodborne pathogens. This review will highlight key aspects of different subtyping methods for bacterial foodborne pathogens and provide examples of their applications in public health, food safety, epidemiology, and population genetics. Molecular subtyping and characterization methods may also facilitate the development of a novel framework for tracking, preventing, and regulating foodborne bacterial diseases, which is based on evolutionary relationships and genetic characteristics rather than traditional species definitions.

'New' genetics meets the old underclass: Findings from a study of genetic outreach services in rural Kentucky

One of the most serious, but least examined, issues arising at the intersection of the 'new' genetics and public health is the relationship between social class and genetic burden. In the USA, concerns in ethics, policy and public discourses about genetic medicine and class structure have frequently been expressed in the notion of a potential 'genetic underclass'. The paper explores the usefulness of the genetic underclass metaphor for framing intersections of genetics and social disadvantage. Data are drawn from preliminary analysis of in-depth interviews with mothers of children affected with a genetic condition or illness, as part of a broader study of the state-funded Genetic Outreach Program serving rural Kentucky. The first section of the paper briefly considers the notion of the genetic underclass as it has appeared in medical ethics and policy literatures. It is argued that the mechanisms of access and discrimination to which the genetic underclass concept is attached are not likely to be those through which the new genetics significantly reinforces or exacerbates social disadvantage. Little direct evidence currently exists to substantiate the notion of a genetically unemployable or uninsurable underclass. However, theoretical dimensions associated with the underclass as it appears in social stratification literature do suggest ways of examining dynamics of genetic conditions and social disadvantage. In the second section of the paper, drawing from these dimensions and through cases analyses, issues and processes are identified that will be of importance to understanding relationships between social disadvantage and public health genetics.

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

Ethics Instruction in an Issues-Oriented Course on Public Health Genetics

Public health ethics and genetics in public health have in the last decade emerged as fields in their own right. This article describes the ethics component of an "Issues in Public Health Genetics" course uniting the fields of genetics, ethics, and public health. As the third member of the University of Michigan Interdepartmental Concentration in Genetics, the course emphasizes the translation of ethical-social issues into substantive policies. A central tension repeated throughout the course exists between respect for individuals' libertarian interests and the welfare of the entire population. Students become familiar with the process of resolving conflicting values through interactive exercises addressing the health needs of diverse communities. Key lessons in course design are described.

Ethics Instruction in an Issues-Oriented Course on Public Health Genetics

Ethics Instruction in an Issues-Oriented Course on Public Health Genetics

Public health genetics

How are advances in genetics affecting public health policy and the development of health services? The website of the Public Health Genetics Unit, a genetics policy unit funded by the UK National Health Service, aims to answer that question. The no-frills site (no Java, no Frames, almost no graphics) is easily navigable, with a clear structure and a simple search facility. At its heart is the information database, featuring brief essays on the genetic basis of selected diseases, information on genetics policy development, and news and commentary on aspects of the ethical, legal and social implications of genetics. Visitors to the site can find, for example, brief overviews of the current state of policy development for genetics and insurance, or population genetic databases. Although the site has a strong UK flavor, it also monitors relevant developments in Europe, the USA and internationally. A rolling monthly newsletter features news, comment on new papers in the research journals, references for new reviews and commentaries, and events listings. New items are posted every few days and are highlighted on the ‘What's New’ page. A comprehensive listing of links rounds off the site, providing a gateway to other resources in the area of genetics and public health policy. (http://www.medinfo.cam.ac.uk/phgu) AS

ON THE COVERGenetics and Preventive Medicine: A Time for InquiryThe Role of Genomics in Public Health and Disease PreventionThe Genetics of Sudden DeathGenomics in Medicine and Public Health: Role of Cost-effectiveness AnalysisGenomic Medicine: Managing the Complexity

ON THE COVERGenetics and Preventive Medicine: A Time for InquiryThe Role of Genomics in Public Health and Disease PreventionThe Genetics of Sudden DeathGenomics in Medicine and Public Health: Role of Cost-effectiveness AnalysisGenomic Medicine: Managing the Complexity

Opportunities for Public Health Genetics Trainees: Results of an Employer/Workplace Survey

Objective: To conduct the first employer/workplace survey identifying employment opportunities for graduates of programs with training in public health genetics in the USA, and to determine whether employment opportunities will increase in coming years. Methods: Six public health genetics training competencies were developed. A survey about workplace and employment opportunities was then conducted with mailings to (1) departments in schools of public health and departments of preventive medicine, (2) local and regional public health officials, (3) insurance companies and health management organizations (HMOs), and (4) biotechnology and pharmaceutical companies. Results: A total of 196 surveys were returned among 1,464 that were mailed. Response rates varied from 5.8 to 46.5% among the target groups. The percent of responding organizations currently employing individuals with skills in genetics ranged from 20 to 62%. The percent currently employing individuals with skills in public health ranged from 39 to 96%. Training opportunities such as internships or practicum experiences are reported for one-third of respondents. For all of the competencies, approximately half of survey respondents who rated the competency important or very important already employ individuals with public health genetics skills. Similarly, at least a quarter of survey respondents who rated the competency important or very important plan to hire individuals with that skill in the next 5 years. Overall, approximately 40% of those surveyed are planning to hire individuals with competencies in public health genetics in the next 5 years. Conclusion: Employment opportunities already exist and new positions are becoming available in schools of public health and departments of preventive medicine, departments of public health, insurance companies and HMOs for professionals with public health genetics training. Based on our survey findings, skills and training in public health genetics are important in the workplace.

Public health genetics: an emerging interdisciplinary field for the post-genomic era.

Public health genetics is an exciting interdisciplinary area that brings all the public health sciences to bear on the emerging challenge of interpreting the medical and public health significance of genetic variation within populations. Sequencing of the human genome will generate an avalanche of genetic information to be linked with information about microbial, chemical, and physical exposures; nutrition, metabolism, lifestyle behaviors, and medications. The public health genetics mini-symposium in this volume includes articles dealing with educational innovations, host-pathogen interactions in infectious diseases, nutrition/genetic interactions in cancers, and population screening for hemochromatosis. Additional topics addressed here are ecogenetics and risk assessment, the genetics of unhealthful behaviors, and ethical and policy issues. Finally, a set of principles for community-based health research in populations is presented as a public health-oriented counterpart to the principle of autonomy and the practice of informed consent that have become key elements of ethics in medical care and medical research with individuals.

The Interface of Genetics and Public Health: Research and Educational Challenges

As the target date for the sequencing of the human genome approaches, there is growing recognition that public health practice, research, and education will be impacted by new genetic technologies and information and that a multidisciplinary approach is required. Research in the emerging field of public health genetics encompasses a broad range of disciplines and will increasingly involve the interactions among the investigators in these fields. An overview of these areas of research is provided, with illustrative examples. Education in public health genetics needs to address a variety of audiences, including public health graduate students and practitioners, students from related disciplines, and health care professionals. Two new graduate programs at the Universities of Michigan and Washington and training opportunities for public health professionals are described. These educational efforts must be ongoing so that the potential of genetic technology and information can be appropriately used to benefit the health of all.

Analytical resources for assessment of clinical genetics services in public health: current status and future prospects.

Genetics services are not well integrated into the public health programs of most states, nor has there been effective use of clinical and program databases in the design, evaluation, and monitoring of public health genetics services at the state level. To evaluate the availability and current use of population-based clinical genetics databases, including birth defects surveillance programs, in state-level public health genetics programs. Mail survey to state genetics coordinators in 50 states and 3 territories during 1996 with an update in 1997. Thirty states had birth defects surveillance programs; data from these resources were used in public health genetics program planning and management in only 15 states. Thirty states or territories had clinical genetics services databases. Most states had newborn screening program databases; few linked these records to vital statistics for programmatic purposes. Only 24 states had individual record databases for the Children with Special Health Care Needs program; 8 states had databases for maternal serum alpha-fetoprotein screening, and 7 had statewide cytogenetics registries. Population-based databases concerning aspects of public health genetics are largely unavailable at the state level. Where these databases exist, they are poorly integrated into state public health genetics program activities. More attention should be paid to the development and use of clinical data programs for the assessment, monitoring, and assurance of genetics issues with relevance to population health.

The state of public health genetics in Rhode Island

Rhode Island is a small state, with a population of approximately one million; 11% live below the poverty line; 10% are uninsured; 10% are minorities; and 13% have no regular source of medical care. There are approximately 77,000 children under the age of 6 years; 20% live in poverty. As reported by vital records, the state has approximately 13,000 births per year; 3.2% have congenital anomalies; less than 1% have inborn errors of metabolism or hemoglobinopathies; but 41% are deemed at developmental risk. There are a total of 1,900 children in the RI Department of Health's early intervention program. One of the departmental goals is to ensure that all children with special health care needs receive diagnostic, therapeutic, and habilitative services on a timely basis. Towards this end, the department has established a new initiative to integrate genetics in public health, utilizing both existing and new sources of funding (from the Maternal and Child Health Bureau of Healthcare Resources and Services Administration). A novel information infrastructure will be implemented to identify children with such needs; identify health resources and services in use; generate aggregate data for surveillance, needs assessment, planning, and evaluation; generate profiles for tracking and followup services; and provide patient information to pediatric and specialty physicians. All of the above will be achieved through a universal, longitudinal, child health information database (KIDSNET), which is linked to 18% of pediatric medical-care sites in the state, and serves more than half of the children in the system. A revised state genetics plan is currently being written to incorporate all relevant elements, with special emphasis on genetics education for consumers, nongeneticist healthcare professionals and members of the legislature.

The guide to community preventive services will be influential in academic health centers: education, research and links with practice

In both clinical medicine and in public health, programs, services and advice have been built based on individual judgments or professional consensus. There has been a lack of educational commitment, a knowledge base and a practice ethic solidly grounded in research and evaluation. The introduction of the Guide to Community Preventive Services, which has a clear link with the categories of immunizations, counseling services and screening tests, is considered to be influential in academic health centers who are engaged in research and evaluation studies. In addition, principles and guidelines for community-based research will facilitate real-world tests of ideas and guidelines for community preventive services. Performance standards and cost-effectiveness analyses will be expected by all payers and by policy-makers. Moreover, scientific advances, especially in the emerging field of public health genetics, will be incorporated. Thus, academics, practitioners, and employers should join forces to persuade payers to accept evidence-based convergence of related clinical guidelines. Such initiatives will improve the chances for increased investment in preventive medicine and public health.

From genes to public health: the applications of genetic technology in disease prevention. Genetics Working Group.

With advances in the Human Genome Project, the implications of genetic technology in disease prevention should be assessed. The paradigm suggested in The Future of Public Health--assessment, policy development, and assurance--was used to examine the continuum from genetic technology to public health practice. First, important public health functions are to (1) assess the impact of genes and their interactions with modifiable disease risk factors on the health status of the population and (2) assess the impact and safety of genetic testing on the population. Second, given the many implications of genetic testing, the public health community should participate in policy development related to the timing and use of genetic testing in disease prevention. Third, whenever appropriate, the public health community needs to ensure the development of public health genetics programs (e.g. newborn screening) and evaluate the quality and effectiveness of the use of genetic testing in disease prevention. Although most current genetic tests are not ready for disease prevention, there is an important role for the public health community in translating genetic technology into disease prevention.

A molecular public health?

This article focuses on the relationship between Public Health and Molecular Genetics. Both the notion of Public Health and correlate expressions are discussed in an attempt to establish their respective objects of investigation and fields of practice. In addition, a brief description is given of the precarious health conditions in Brazil. The author remarks on the limited social effectiveness of the role ascribed to public health professionals in Brazil. Techniques and concepts developed by Molecular Genetics are presented and their importance for Public Health is analyzed. Genetic risk is discussed and compared to the idea of inherited disposition to disease, with special emphasis on ethical and epistemological points of view. The notion of expert is considered in terms of its adequacy for training health professionals to deal with issues pertaining to Molecular Biology and Human Genetics in Public Health matters. Lastly, the author argues for the role of the state in defining social priorities in health.

The Human Genome Project and health behavior and health education research.

The Human Genome Project (HGP) is a multinational initiative to map and sequence the human genome. This major biological research effort, estimated to take 15 years and cost $3 billion, should have significant implications for public health generally, and for health behavior and health education research in particular. It is anticipated that the HGP research will lead to expanded (1) newborn genetic disease screening, (2) prenatal diagnoses and (3) trait carrier screening. The HGP also is likely to lead to presymptomatic screening of people with late onset genetic diseases, as well as screening for genetic-based susceptibility for common disease morbidity and mortality mediated by either or both life style and environmental factors. These potential developments have raised ethical, legal and social questions, and have highlighted the fact that research is needed on individual, organizational, population and governmental use of and response to these developments. Central to the expanding role of genetics in public health will be health behavior and education research. Such research could contribute to an effective and humane applied human genetics.

The future of genetics in public health

During the 1980s, we have witnessed an erosion in federal and state funding for the coordination of genetic services in state health departments. As this decade begins, the federal budget for the support of the national genetics program is less than half of the total available in 1980. In addition, priorities in state maternal and child health programs have changed, and genetic services have often received lower rankings aside of programs to improve prenatal care and to address problems such as teenage pregnancy. Clearly we are at a critical point for the future of genetics programs in the public health arena. Fortunately, despite the problems with funding and priority setting, important coalitions have been built during the past decade and continued advances in medical genetics have made it difficult for public health officials to ignore the potential impact of genetic services. Council of Regional Networks for Genetic Services (CORN) and the regional genetic services networks have provided opportunities for interaction and coordination between genetic services providers and public health officials that had not been available to any significant extent. The full potential of these coalitions has yet to be realized, but efforts in data collection, development of national guidelines and standards, and information sharing and networking have already had an influence on state genetic services programs. Continuing research on the genetics of chronic diseases and the influence of discoveries in molecular genetics will undoubtedly broaden the current scope of state public health programs in genetics, which all too often have been limited to newborn screening and administration of grants for genetic services. The regional and national genetic services programs should be strengthened and appropriate training programs should be developed in Schools of Public Health to provide the expertise and leadership that will be needed to guide the future of genetics in public health.

Abstracts of papers presented at the Tenth Annual NSGC Educational Conference: The interface between public health and clinical genetics

Journal of Genetic CounselingVolume 1, Issue 1 p. 93-122 Article Abstracts of papers presented at the Tenth Annual NSGC Educational Conference: The interface between public health and clinical genetics First published: March 1992 https://doi.org/10.1007/BF00960088AboutPDF 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 onFacebookTwitterLinkedInRedditWechat Volume1, Issue1March 1992Pages 93-122 RelatedInformation

Genetics, Medicine and Public Health From the Geography of Diseases to the Phenotypic Spectrum of Malformation Syndromes

SummaryThe following problems are briefly mentioned and discussed in this paper: (i) the role of genetics in public health, both in developed and in developing countries; (2) genetic aspects of the differential geographical distribution of diseases; (3) clinical and etiological aspects of malformation syndromes; (4) nosological complexity and phenotypic spectrum of these syndromes, with special reference to ectodermal dysplasias; (5) some problems of modern human communities.

Genetics in public health nursing

Genetics in public health nursing