Associations between modifiable exposures and disease seen in observational epidemiology are sometimes confounded and thus misleading, despite our best efforts to improve the design and analysis of studies. Mendelian randomization-the random assortment of genes from parents to offspring that occurs during gamete formation and conception-provides one method for assessing the causal nature of some environmental exposures. The association between a disease and a polymorphism that mimics the biological link between a proposed exposure and disease is not generally susceptible to the reverse causation or confounding that may distort interpretations of conventional observational studies. Several examples where the phenotypic effects of polymorphisms are well documented provide encouraging evidence of the explanatory power of Mendelian randomization and are described. The limitations of the approach include confounding by polymorphisms in linkage disequilibrium with the polymorphism under study, that polymorphisms may have several phenotypic effects associated with disease, the lack of suitable polymorphisms for studying modifiable exposures of interest, and canalization-the buffering of the effects of genetic variation during development. Nevertheless, Mendelian randomization provides new opportunities to test causality and demonstrates how investment in the human genome project may contribute to understanding and preventing the adverse effects on human health of modifiable exposures.

/pdf/mendelian-randomization-can-genetic-epidemiology-contribute-vb0zjyrtxf.pdf

‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?

As the search for human genetic variation has become a priority for biomedical science, debates have resurfaced about the use of race and ethnicity as scientific classifications. In this paper we consider the relationship between race, ethnicity and genetics, using insights from science and technology studies (STS) about processes of classification and standardization. We examine how leading biomedical science journals attempted to standardize the classifications of race and ethnicity, and analyse how a sample of UK genetic scientists used the concepts in their research. Our content analysis of 11 editorials and related guidelines reveals variations in the guidance on offer, and it appears that there has been a shift from defining the concepts to prescribing methodological processes for classification. In qualitative interviews with 17 scientists, the majority reported that they had adopted socio-political classification schemes from state bureaucracy (for example, the UK Census) for practical reasons, although some scientists used alternative classifications that they justified on apparently methodological grounds. The different responses evident in the editorials and interviews can be understood as reflecting the balance of flexibility and stability that motivate standardization processes. We argue that, although a genetic concept of race and ethnicity is unlikely to wholly supplant a socio-political one, the adoption of census classifications into biomedical research is an alignment of state bureaucracy and science that could have significant consequences.

The Standardization of Race and Ethnicity in Biomedical Science Editorials and UK Biobanks

Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease or condition) are increasingly utilized to promote and improve the public's health. The proliferate use of genetic testing and screening may improve public health outcomes, but it also implicates significant ethical, legal, and social concerns. Within the context of conflicting ethical values from the individual and public health perspectives, individual values such as informed consent and privacy and discrimination protections must be respected. Legal and ethical attempts to exceptionalize genetic tests and information (as compared to other health information) to protect privacy and prevent discrimination are well intended, but can also be unjust and impractical. Respect for individual ethical rights has limits. Principles of public health ethics justify voluntary genetic testing and screening and sharing of data for population-based health purposes. Thus, individual rights should not always trump the use of genetic tests or screening programs (or information derived therefrom) for legitimate public health purposes.

Ethical issues concerning genetic testing and screening in public health

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.

/pdf/genetic-testing-and-common-disorders-in-a-public-health-3g5hlz16lc.pdf

Genetic testing and common disorders in a public health framework.

This study assessed the reliability of birth certificate data related to birth defects in Brazil's Live Birth Information System (SINASC). We selected 24 maternity hospitals in the Unified National Health System (SUS) and compared the reports of birth defects from birth certificates with medical records of mothers and live born infants in the city of Rio de Janeiro for the year 2004. After transposing the data to a specific form, the birth defects were coded by types and organ systems and compared to the SINASC data. The most commonly affected organs involved the central nervous and musculoskeletal systems. Agreement was more than 50% for the digestive, genitourinary, and musculoskeletal systems and chromosomal anomalies. Prevalence-adjusted kappa varied according to 2 or 3-digit ICD-10 analysis, with better results for the musculoskeletal, digestive, and genitourinary systems and congenital anomalies, and worse for the central nervous and cardio-circulatory systems, eye, neck, and ear malformations, and cleft lip and palate. The results were unsatisfactory, suggesting the need for more investments to train the persons responsible for completing birth certificates in maternity hospitals and develop a model for coding birth defects on these documents.

/pdf/reliability-of-birth-defect-data-on-birth-certificates-of-2897au2vsp.pdf

Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004

Because public heath professionals will increasingly use genetic technologies and information in research, policy and program development, the purpose of the book, as stated in the Preface, was to delineate a framework for the integration of advances in Human Genetics into Public Heath practice. Even though the book was written by many contributors from various disciplines, the editors succeeded in keeping uniformity of the format, and the book represents a definite entity discussing many aspects of the subject. The book is divided in six parts. The first part con­ sists of an overview of the principles of human genetics in public health, and includes the presentation of a framework for the integration of human genetics into public heath that was developed as part of the Center for Disease Control (CDC) strategic plan. The second part relates to public health assessment in genetics, in particular on various issues on surveillance of birth defects and genetic diseases and disorders with a gene­ tic component. The third part of the book is devoted to public health evaluation of genetic testing, such as the quality assessment program for newborn screen­ ing. The last two parts of the book deal with some ethical and social issues, education, and information dissemination. The main part of the book is on developing, im­ plementing, and evaluating population interventions. Although there is one short chapter from the Nether­ lands, and another referring to developing countries, it would have been interesting to add experiences from other countries, in particular from Europe and the WHO program on Human Genetics. I was surprised to see that there are no chapters dedicated to carrier screening programs or to prenatal screening programs. I understand, however, that this was purposeful, as stated on page 69 in a chapter for which one of the editors was an author: ‘‘. . .it is the authors’ views that the goal of Public Health genetic screening programs should not be genotypic prevention, because the decision to undergo prenatal screening diagnosis and to consider pregnancy termination is intensively perso­ nal and should not be influenced by public health goals, professionals agencies or organizations. Although some geneticists have assessed prenatal testing programs on this basis, such goals can have eugenic implications.’’ As a geneticist, I find this approach very disturbing, because the goals of prenatal genetic programs have never included the abortion of abnormal fetuses. The purpose of carrier screening programs is to give the individual or the couple, a choice to decide whether or not to have the test and whether or not to use it during a pregnancy. The programs for carrier detection of hemoglobinopathies in Mediterranean countries and the U.K., or of Tay Sachs disease among Ashkenazi Jews, have been very successful. A lot may be learned from these programs because millions of individuals have been screened and much of the experience gained should be used in future Public Health genetic screen­ ing programs, even if the aims are different. Similarly, the worldwide experience in the programs offering pre­ natal diagnosis for Down syndrome should have been discussed. In each of the six parts of the books there are excel­ lent chapters that give very good summaries of each of the respective subject. These chapters may serve as the basis for teaching relevant courses. It is my feeling that this book should become a reference to students and practitioners not only in the field of Public Health but also in the field of Medical Genetics.

Genetics and public health in the 21st century

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Genetics and public health in the 21st century