Genetics and Health Care: A Paradigm Shift

Pa, Baird

doi:10.1353/pbm.1990.0009

Cited by 28 publications

(12 citation statements)

References 25 publications

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“…Embracing a more realistic biological model that incorporates the complexity of the interactions between agents as causations in a particular context indexed by time and space will be necessary to answer the three cardinal genetic questions about disease 14 : (1) where are the susceptibility genes located? (2) what are the functional DNA sequence variations in these genes? and (3) what are the statistical (for prediction) and biologic (for etiology) relationships between genotype variation and variation in onset, progression, and severity in which subsets of individuals?…”

Section: Discussionmentioning

confidence: 99%

Genes, Environment, and Cardiovascular Disease

Sing

Stengård

Kardia

2003

ATVB

204

138

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Abstract-In this essay, we call to attention what every medical researcher knows about the etiology of cardiovascular disease but most deny, or choose to ignore, when designing, carrying out, and reporting genetic studies. Medical research is entering an era of synthesis that will take advantage of the successes of reductionism over the past decade in defining and describing human genome variations. Meaningful insights into the role of such variation requires a biological model of genome-phenotype relationships that incorporates interactions between subsets of possible genetic and environmental agents as causations in particular contexts indexed by time and space. We make recommendations for what needs to be done to cope with these complexities. The ProblemCommon chronic multifactorial diseases are responsible for the greatest demand on medical services. 1-3 They also make the largest contribution to loss of human life and productivity in westernized societies (eg, see Murray and Lopez 4 and the American Heart Association 5-7 ). Deviations from health attributable to these diseases, which include cardiovascular disease (CVD), cancer, diabetes, and the psychiatric disorders, typically aggregate in families but they do not segregate as Mendelian single-gene disorders. The distribution of disease among individuals, families, and populations is a direct consequence of the distribution of interactions between the effects of many susceptibility genes and many environmental exposures, that, through dynamic, epigenetic, regulatory mechanisms, ultimately become integrated to generate the disease phenotype. 8 -18 The genetic analysis of a multifactorial disease presents the most difficult research challenge facing human geneticists today. We consider CVD in this presentation to illustrate the issues encountered in using genetic information in research to understand the etiology of most common chronic diseases as well as in the identification and treatment of individuals who are at increased risk. We call to attention what every cardiovascular researcher knows about the etiology of CVD but most deny, or choose to ignore, when designing, carrying out, and reporting genetic studies of CVD. We close by suggesting steps that should be taken to cope with this inconsistency. Disease SusceptibilityAll cases of CVD have a complex multifactorial etiology. Neither genetic nor environmental agents acting independently cause disease. Full knowledge about an individual's genetic makeup or exposures to adverse environments cannot predict with certainty the onset, progression, or severity of disease. Disease develops as a consequence of interactions between the "initial" conditions, coded in the genotype, and exposures to environmental agents indexed by time and space 19 -21 that are integrated by dynamic, regulatory networks at levels above the genome. 22 The interaction of an individual's environmental experiences with her/his genotype determines the history of her/his multidimensional phenotype, beginning at conception and continui...

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Section: Discussionmentioning

confidence: 99%

Genes, Environment, and Cardiovascular Disease

Sing

Stengård

Kardia

2003

ATVB

204

138

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“…While Kuhn was agnostic about whether such revolutions necessarily constitute “progress,” the popular understanding has become that paradigm shifts are the most effective form of scientific progress. As a result, appealing to the prospect of a “paradigm shift” for biomedical science has been successful in generating public and private investment in genomics research, and a wide variety of stakeholders promote its translational goals as a new paradigm for medicine, under the banner of “personalized genomic medicine.” As Francis Collins, long‐time leader of human genomics research in the United States, puts it:…”

Section: Articlesmentioning

confidence: 99%

Personalized Genomic Medicine and the Rhetoric of Empowerment

Juengst¹,

Flatt²,

Settersten³

2012

Hastings Center Report

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“…The effects of this paradigm are increasingly felt throughout clinical practice, by generating new categories of disease-and new conceptual understandings of health-based on genetic mutations and molecular explanations (Baird, 1990;Bell, 1998). The primacy of genetic explanations of disease and health has been defined as "geneticization" (Lippman, 1992).…”

Section: An Emerging Genomic Prismmentioning

confidence: 99%

Nicotine addiction through a neurogenomic prism: Ethics, public health, and smoking

Caron¹,

Karkazis

Raffin

et al. 2005

Nicotine & Tobacco Research

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Studies are under way to examine the neurogenetic factors contributing to smoking behaviors. The combined approaches of genomics, molecular biology, neuroscience, and pharmacology are expected to fuel developments in pharmacogenetics, to create new genetic tests, and ultimately to provide the basis for innovative strategies for smoking cessation and prevention. The emergence of a neurogenomic understanding of nicotine addiction is likely to induce fundamental changes in popular, clinical, and public health views of smoking, which could significantly shape existing practices and policies to reduce tobacco use. Still a nascent area of research, nicotine addiction provides an excellent case study through which to anticipate key ethical and policy issues in both behavioral genetics and the neurogenomics of addictive behaviors. An emerging genomic prismSince the beginning of the Human Genome Project, genetic and molecular approaches to disease and to the study of normal physiology have become a dominant paradigm for biomedical research. The effects of this paradigm are increasingly felt throughout clinical practice, by generating new categories of disease-and new conceptual understandings of health-based on genetic mutations and molecular explanations (Baird, 1990;Bell, 1998). The primacy of genetic explanations of disease and health has been defined as "geneticization" (Lippman, 1992). Critical analyses of the process of geneticization-in which genetics is compared with a prism, coloring and diffracting our views of health and disease (Boyle, 1992)-have become a cornerstone for studies of the ethical, legal, and social implications of genetic research and technologies (Duster, 1990;Harris & Schaffner, 1992;Murray Jr., 1996;Nelkin & Lindee, 1995;Rapp, 1988;Rothenberg, 1997;Shuster, 1992). The metaphor of light refracted through a prism has proved useful in imagining how our understanding of human disease or behavior will be shaped by the assumptions and methodologies of molecular genetics.

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Genetics and Health Care: A Paradigm Shift

Cited by 28 publications

References 25 publications

Genes, Environment, and Cardiovascular Disease

Genes, Environment, and Cardiovascular Disease

Personalized Genomic Medicine and the Rhetoric of Empowerment

Nicotine addiction through a neurogenomic prism: Ethics, public health, and smoking

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