Public Health Genetics Research Articles

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.

Public health genetics in India: An unexplored evolving specialty

Public health genetics in India: An unexplored evolving specialty

Legal aspects in pediatric and adolescent gynecology

Childhood and adolescent gynecology is an emerging specialty at the intersection of pediatrics, pediatric endocrinology gynecology pediatric surgery dermatology psychiatry, public health medicine and genetics, and in fact addresses many legal issues. Poland lacks a uniform standing of medical and legal environments on how to deal with a juvenile patient who has become sexually active and seeks the advice of a gynecologist, gynecologic examination and requests to be prescribed contraceptives. It needs to be taken into account that in Poland a parent or a legal guardian has legal guardianship, custody and control of a child until 18 years of age but once a juvenile reaches the chronological age of 16 years, and is given full rights of a patient, both parties need to consent to medical care. According to the Act on Health Care Institutions, a patient has the right to self-determination, respect for physical and mental integrity as well as privacy whereas, after the patient reaches the age of 16 years, the legal representative becomes in practice a mere co-decision maker to have medical services performed. Therefore, information obtained from a juvenile patient during physical test and medical interview does not have to be revealed to a legal representative, if the patient requests confidentiality and on condition it does not affect patient health and/or the planned medical procedures (e.g. the need to perform an operation). Knowledge about procedures for juvenile patients shall enable doctors to make conscious choices about conduct and care or in most cases, only advice, without the risk of breaching the Polish law.

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

Genetics and genomics have developed fast in the last decade, but have not revolutionized medicine, as some had expected. While translation of research findings to public health applications is lagging behind, direct-to-consumer (DTC) offers of genetic testing have become available, both for monogenic and severe genetic disorders and for genetic variants possibly associated with common complex diseases (susceptibility variants). The European Society of Human Genetics is concerned about the way in which commercial companies are currently introducing genetic tests into the market outside of the scope of the traditional health-care system. There is a sort of a paradox between the lagging implementation in health care of the few genetic tests with proven clinical utility, on the one hand, and the speedy DTC offer of tests, with or without clinical utility. To translate research findings into appropriate clinical applications, assessment of the clinical validity and utility is needed. Many of the parameters needed in assessment frameworks are not available yet. Clinically relevant associations between genetic variants and disease risks have been established, e.g., in oncogenetics and cardiogenetics, and can be used to reflect on the possibilities and obstacles in using the new genetics in public health. In the absence of sufficient information on clinical validity and clinical utility, introduction of genetic tests in common complex disorders is often premature. Priority should be given to settings where clinical utility is proven or likely, to gain additional information concerning diagnosis, prognosis, and disease management. Monitoring and evaluation are essential.

Ethical challenges in gene environment interaction studies

Interdisciplinary research is needed to unravel the multifactorial aetiology of chronic diseases, considering both environmental and genetic risk factors, which will need more involvement of epidemiologists in the genetic area....

Conhecimento e atitudes sobre genética entre médicos residentes

O objetivo deste trabalho foi estudar o conhecimento, as crenças e opiniões sobre Genética em um grupo de médicos residentes. Foi utilizada a técnica de grupos focais com 12 residentes de Pediatria em seu primeiro mês de curso, divididos em quatro grupos. Para a análise do material, foi escolhida a técnica da leitura isotópica. Os participantes demonstraram pouco interesse pelo assunto, mas tinham um grau razoável de conhecimento. Este conhecimento, entretanto, era pouco vinculado à prática clínica, sugerindo a necessidade de reformulação da formação médica. Os grupos mostraram consciência da alta prevalência e da grande morbidade das doenças genéticas, sinalizando que a nova geração de médicos pode ser mais sensível à questão da inserção da Genética na saúde pública. O Brasil está passando por um momento de transição epidemiológica, com o aumento proporcional das doenças de etiologia genética como causas de morbi-mortalidade, tornando necessária a inclusão dessas condições no planejamento para a gestão da saúde pública.

Genetic testing and common disorders in a public health framework

In recent years, the attention of the genomics and genetics research community has shifted toward understanding the basis of common disorders. The spectacular growth of genome-wide association studies has shed new light on the variants influencing risk factors. Understanding pathogenesis and etiology, and finding new ways to prevent and treat those diseases are major challenges. In the era of genomics, a promise of personalized prevention and drug treatment is presented, which many people meet with enthusiasm but which others call into question. The Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG), EuroGentest and the Institute for Prospective Technological Studies (IPTS) convened to discuss the relevance and possibilities of genetic testing for common disorders. Currently (in 2010), the genetics research community is skeptical about the possibilities of genetic susceptibility testing and screening contributing significantly to the improvement of the quality of health care. Meanwhile, some applications of very limited clinical utility have become available directly to consumers. Recently, the PPPC published critical recommendations on policy concerning DTC genetic testing (EJHG, 25 August 2010). When considering the potential of new genomic developments for a public health perspective, this Background Document takes the spectrum ranging from monogenic disorders on the one hand to common complex disorders on the other hand into account. It is argued that associations between genetic variants and disease risks of clinical relevance have been established, for instance for hereditary breast and ovarian cancer, colon cancer, diabetes mellitus (MODY subtypes), thrombosis, cardiovascular disorders, celiac disease and Alzheimer's disease. Although these examples relate to the monogenic subforms of common disease, they can nevertheless be used to reflect on the possibilities and relevant obstacles in using the new genetics in public health. The deliberations, reflected in the final Background Document, have led to the below recommendations from the PPPC concerning the pitfalls and possibilities of genetic testing in common disorders. A draft of both the Background Document and Recommendations has been distributed and posted on the web during the summer of 2009 to elicit further comments. The PPPC and the Board of the ESHG approved the final version. This final text is considered to reflect the views of the European human genetics scientific and professional community.

Community genetics: 1998–2009…and beyond

In recent years, public health genomics has been introduced in the scientific literature as a new endeavour, aiming at the translation of genome-based knowledge and technologies into health interventions and public policies for the benefit of public health (Brand and Brand 2006; Zimmern and Stewart 2006; Gwinn and Khoury 2006). In 2009, Public Health Genomics started to appear as an international journal and a new signpost of the emerging field; however, as the editors pointed out, the new journal builds on an earlier version which was already founded in 1998, published as Community Genetics (Knoppers and Brand 2009). Thus, as a new and emerging field, public health genomics does not only embody promises and expectations for the future. It is also rooted in a history of past attempts and achievements, constituting “community genetics” as a bridge between genetics and public health (ten Kate 2005). In this context the relationship between public health genomics and community genetics has become a matter of debate. As becomes clear from the establishment of the new Journal of Community Genetics, there is a continuing interest in community genetics, defined by aims independent from public health genomics. In an interesting sociological commentary in the first issue of this journal, it is indeed observed that we should not take for granted that “public health genetics and community genetics could be viewed as one and the same” (Raz 2010). In a farewell editorial, published in the final issue of the former journal Community Genetics, Leo ten Kate likewise emphasized that community genetics “is not just a name but a unique concept, which has its own place besides clinical genetics and public health genetics or genomics” (ten Kate 2008, see also Schmidtke and ten Kate 2010; and ten Kate et al. 2010). In this commentary, I will take a closer look at the uniqueness of the concept of community genetics, using the 11 volumes of the former journal Community Genetics as my primary source material.1 My aim is not a complete review of the contents of this journal, which would be an impossible task, but a discussion of some aspects and questions which I see as particularly interesting and significant for our understanding of the concept and agenda of community genetics. What can we learn from the history contained in this former journal about the particularities of community genetics and its relation with the emerging field of public health genomics? Most revealing in this history is the tension between a conception of community genetics as a professional and regulated endeavour and as a programme of individual empowerment. Although we can see this tension as a unique feature following from the concept and agenda of community genetics, it is also highly significant, as I will argue, for the future prospects of public health genomics.

Genetic diversity of hemoglobinopathies, G6PD deficiency, and ABO and Rhesus blood groups in two isolates of a primitive Kharia Tribe in Sundargarh District of Northwestern Orissa, India

Tribal communities constitute about 8.2% of the total population of India. Their health needs are even larger than elsewhere in India; this study investigates the genetic diversity in relation to hemoglobinopathies, G6PD deficiency and, ABO and Rhesus (D) blood groups in two sects, i.e. Dudh (converted Christian) and Dhelki (Hinduised) Kharia, a primitive tribe in Sundargarh district of Orissa in Central-Eastern India. A randomized screening of 767 Kharia tribals (377 males and 390 females) belonging to all age groups and both sexes was done. Laboratory analysis was carried out following the standard methodology and techniques. Contrasting differences were observed in the frequency of hematological genetic disorders such as β-thalassemia, sickle cell, hemoglobin E, G6PD deficiency, ABO and Rhesus (D) blood groups between the two subgroups. Dudh Kharia had no hemoglobin variant allele other than the high prevalence of β-thalassemia trait (8.1%), whereas, their counterpart Dhelki Kharia had the high prevalence of sickle cell allele (12.4%), hemoglobin E allele (3.2%), and β-thalassemia allele (4.0%). Frequency distribution of hemoglobin variants between Dudh and Dhelki Kharia tribe was statistically highly significant (p < 0.001). High G6PD deficiency was detected 19.2% and 30.7% in Dudh Kharia and Dhelki Kharia, respectively (p < 0.001), the average being 24.4% in Kharia tribe. Kharia tribes show a trend for replacement of sickle cell gene with G6PD-deficiency gene as the clinical manifestations of G6PD deficiency are mild (do not result in a complete loss of enzyme activity) against the sickle cell disease with high morbidity and mortality. Rhesus (D)-negative blood group was 1.1% in Dudh Kharia and absent in Dhelki Kharia (p < 0.05). This study showed genetic isolation of the two sects of Kharia tribe. Antimalarial drugs administration needs to be done with caution. Hematological disorders pose a major health challenge having multifaceted implications in public health genetics.

Expanding Roles: A Survey of Public Health Genetic Counselors

According to the 2008 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%). Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs. Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working in government agencies. Genetic counselors have opportunities to become involved in public health activities as the scope of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine's "10 Essential Public Health Services." The NSGC and genetic counseling training programs are encouraged to offer more public health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area.

Is there a better way to get consent for bloodspot use?

Is there a better way to get consent for bloodspot use?

Overview of the Symposium on Public Health Significance of Genomics and Eco-Genetics

Genomic and genetic information is rapidly becoming a major element in public health research and emerging public health practice. This symposium reviews the methods, findings, and significance of genome-wide association studies from epidemiological and statistical points of view. We examine infectious and inflammatory components of gene-environment interaction in the respiratory system. We note the need for nutrient and dietary data and many other kinds of environmental exposure data in population-based genomic studies. Then we explore the sufficiency of a well-informed family history for public health and family counseling purposes. Finally, in an era of direct-to-consumer genomic test promotion, we review the evidence on the critical question, will genetic risk profiles motivate individuals and families to choose more healthful behaviors? This symposium builds on the foundation of the symposium on Public Health Genetics in Volume 21 (2000) of the Annual Review of Public Health.

The journal of community genetics.

The new journal Journal of Community Genetics sets another landmark in the history of community genetics. In 1987, the term “community genetics services” was first used in a WHO document to describe clinical genetic activities offered directly to the population, and the need for research in this area of medical practice was soon realized (Modell et al. 1991; Modell 1992). In 1998, the journal Community Genetics was founded (Ten Kate 1998) and, for 11 years, served as a forum for all research activities in the field. The new Journal of Community Genetics follows this tradition as the only periodical publication worldwide devoted to this branch of medicine. It is an official journal of the International Society of Community Genetics and Genomics, founded in 2009, and fulfills the prophecy that a good concept may temporally be invisible but, as a submarine, will surface somewhere (Ten Kate 2008). Meanwhile, the international multidisciplinary community genetics e-mail network has more than 800 members at the time of writing and continues to grow. We believe that community genetics and “public health genetics” are not the same, although they have much in common. The principal aim of public health genetics is to improve population health by reducing disease prevalence. The ultimate aim of community genetics is the well-being of the individual in that population. These different aims can be in conflict, particularly in the area of reproductive medicine. An informal group of 14 scientists from Europe, Africa, Asia, Australia, North America, and South America has recently reached the consensus definition: Community Genetics is the art and science of the responsible and realistic application of health and disease-related genetics and genomics knowledge and technologies in human populations and communities to the benefit of individuals therein. Community Genetics is multi-, inter- and transdisciplinary and aims to maximize benefits while minimizing the risk of harm, respecting the autonomy of individuals and ensuring equity. (Ten Kate et al. 2010). The main areas of research in community genetics were identified by these authors to include: Genetic screening Genetic literacy and education Access and quality of genetic services Genetics in primary care Genetics in middle-income and low-income countries Genetics in disadvantaged subpopulations Registries of congenital and genetic disorders Genetics in preconception care Public consultation on genetic issues Epidemiological issues Economic issues Psychosocial issues Ethical and legal issues Policy issues The Journal of Community Genetics invites the scientific community to submit research on all these activities. The journal will present original research papers, reviews, short communications, case and country reports, commentaries, news, and correspondence. The journal will serve as a forum for community genetics worldwide, with a focus on low-income and middle-income countries, many of which now experience the epidemiological transition from infectious disease to genetic disease as major constituents of population and individual disease load. This is reflected by the composition of the board of associate editors and by the members of the advisory board, rendering this Springer periodical a journal with an impressively broad geographic distribution of scientific support. We would like to thank the publisher for their engagement in a field of research that is likely to impact, in the near future, on a dramatically increasing number of communities and individuals worldwide, yet remains heavily underdeveloped and underfunded even in the majority of developed countries. We hope that this journal will help to increase the visibility of community needs and demands for genetic services, and the necessity for research in this area. Jorg Schmidtke and Leo P. ten Kate

Scope of definitions of genetic testing: evidence from a EuroGentest survey.

Genetic testing is a term used in different settings, often with very different meanings. There are only very few studies published about the various possible definitions of "genetic testing", and evidence is lacking from its use in professional practise. The need for precise definitions is particularly felt when producing legislation, policy recommendations or professional guidelines. EuroGentest Unit 3 (Clinical, Community and Public Health Genetics) had, as one of its objectives, to analyse definitions of "genetic testing" and propose consensus working definitions, if possible. To assess what was meant when using this term, in each individual professional context, a questionnaire was developed to evaluate if a consensus definition was desirable and achievable and what items or information should be included in the scope of such a definition. The questionnaire was sent to all EuroGentest partners and other registered users of its website; 135 answers were received, a response rate of 22%. The need for a consensus definition was acknowledged by the vast majority, although there was much less concordance about the possibility of attaining one. Clinical geneticists were the most supportive for context-dependent definitions. Conflicting perspectives arose, however, when discussing the inclusion of some type of tests, material or technology used. At issue seemed to be the distinction between the concepts of genetic material-based testing and genetic information.

Genetics in public health: Rarely explored

The availability and the integration of genetic information into our understanding of normal and abnormal growth and development are driving important changes in health care. These changes have fostered the hope that the availability of genetic information will promote a better understanding of disease etiology and permit early, even pre-symptomatic diagnosis and preventive intervention to avoid disease onset. Hence, our aim was to review and provide the insight into the role of genetics in public health and its scope as well as barriers. The use of genetics along with their goals and essential public health functions are discussed. From the era of eugenics to the present era, this area has seen many turns in which geneticists have put through their effort to tie together the strings of both molecular genetics and public health. Though still the dark clouds of eugenics, the predictive power of genes, genetic reductionism, non-modifiable risk factors, individuals or populations, resource allocation, commercial imperative, discrimination and understanding and education are hanging above. The technological and scientific advances that have fundamentally changed our perception of human diseases fuel the expectations for this proactive health.

Outcomes of genetics services: Creating an inclusive definition and outcomes menu for public health and clinical genetics services

Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools--"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan.

Quality assurance in medical and public health genetics services: A systematic review

As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and "outcome." MEDLINE searches from 1990 to July 2008, yielded 2,143 articles that addressed both "medical/genetic screening and counseling" and "quality indicators, control, and assurance." Of the 2,143 titles, 131 articles were extracted for in-depth analysis, and 55 were included in this review. Twenty-nine articles focused on structure, 19 on process, and seven on outcomes. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics.

Public Health Genetics

Public Health Genetics

Commentary

In May 2007, I gave a talk at the Institute for Public Health Genetics (IPHG) at the University of Washington (UW), Seattle. My topic was the Genographic Project, specifically the colonial history and racial narratives that I see as shaping the work of the project. I left IPHG encouraged by my conversations with UW researchers, including native researchers and program administrators who organize collaborative and ethically rigorous research. The individuals I met work in multiple native communities, especially those in the Pacific Northwest.

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