Genetic Testing Practices Research Articles

Exceptional know how? Possible pitfalls of routinising genetic services

Genetic testing practices are increasingly advancing clinical medicine. This process of ‘routinisation of genetics’ has been conceived as a medical and ethical problem mainly because of the assumption that non-geneticists...

Genetic testing, governance, and the family in the People’s Republic of China

In western countries the rise of genetic testing has been accompanied by ethical arrangements like autonomy and informed consent that help to dissociate genetics from eugenic policies. However, critics have argued that this trend to increase individual choice should be considered as a neoliberal governance strategy to promote bio-citizenship. These western concepts are often used to discuss genetic testing in the Peoples Republic of China as well. China’s population policy has a reputation for condoning eugenic practices and for ruthless one-child and family planning policies, but there have been many reforms recently, which, together with the revival and development of traditional religions and beliefs, have complicated the discussion about the meaning of the Chinese family. In this context, the introduction of genetic testing in China has been linked to state eugenics as well as post-reform neo-liberalist governance. Based on fieldwork and various archival and literature studies it explores genetic testing in five different Chinese contexts. The analysis makes clear that, although population planning in China proceeds from the idea that the planning of family health leads to a healthier population, traditional beliefs, individual initiative, group pressure, commercial organisations and state policies make for an amalgam of genetic testing practices that cannot be understood in terms of eugenics or liberal governance.

Genetic testing of sperm donors: survey of current practices

To determine which genetic tests are being performed on sperm donor applicants in the United States. An electronic survey was distributed to 26 sperm banks to evaluate their genetic testing practices. Sperm banks in the United States. Not applicable. None. Survey of current practices. Survey of current practices. Cystic fibrosis (CF) carrier screening, chromosome analyses, and hemoglobin evaluations are performed on the majority of sperm donor applicants. Tay-Sachs disease carrier screening is performed on most donors with Jewish heritage but there is significant variation in screening for other disorders that occur with increased frequency in this population. Individual sperm banks use different laboratory tests for evaluation of the same conditions, with each test having different carrier detection rates and interpretations. The genetic testing performed on sperm donors varies significantly at sperm banks across the United States. Therefore, recipients should be clearly informed about the specific evaluations performed on their donor of interest. Thus it is important that sperm banks employ genetic professionals to evaluate the donors' and recipients' medical histories and perform a genetic risk assessment. This will allow clients to make informed decisions about use of semen specimens from an anonymous sperm donor.

From Genetics to Genomics: Ethics, Policy, and Parental Decision-making

Ethical evaluation of genetic testing in children is traditionally based on balancing clinical benefits and risks. However, this focus can be inconsistent with the general practice of respecting parental decision-making about their children's health care. We argue that respect for parental decision-making should play a larger role in shaping pediatric genetic testing practices, and play a similar role regarding decisions to use emerging genomic technologies. Genomic testing involves the examination of thousands of DNA markers spanning genes throughout the genome and their interrelationships, yielding virtually limitless interpretations. We presume that parents and providers should proceed cautiously in applying genomic testing in children, as we explore how genomic testing will stress the fault lines of the traditional ethical analysis. Empirical data about the psychosocial risks and benefits of genetic testing of children do not reveal serious harms, yet virtually no such data exist yet about genomic testing. Unless empirical social and behavioral data indicate that genomic testing is highly likely to cause serious harms to the children, parental decisions to obtain comprehensive genomic testing in their children should be respected. Once comprehensive genomic testing of children becomes routine, resultant information may be more easily integrated by families than anticipated. Research on the social and behavioral impact of comprehensive genomic testing on children and their families is needed to further inform parents, clinicians, and policy makers.

Hemochromatosis: Genetic Testing and Clinical Practice

The availability of a facile treatment for hemochromatosis renders early diagnosis of iron overload syndromes mandatory, and in many instances genetic testing allows identification of individuals at risk of developing clinical disease before pathologic iron storage occurs. Numerous proteins implicated in iron homeostasis have recently come to light, and defects in the cognate genes are associated with iron storage. Although most adult patients with hereditary iron overload are homozygous for the C282Y mutation of the HFE gene, an increasing number with hereditary iron storage have an HFE genotype not characteristic of the disease. Heterozygosity for mutations in the gene encoding ferroportin 1 (FPN1) is probably the second most common genetic cause of hereditary iron storage in adults; here the primarily affected cell is the macrophage. Rare defects, including mutations in the transferrin receptor 2 (TFR2) gene, have also been identified in pedigrees affected with "non-HFE hemochromatosis." Homozygous mutations in the newly identified genes encoding hemojuvelin (HFE2) and hepcidin (HAMP) cause juvenile hemochromatosis. At the same time, heterozygosity for mutations in these genes can modify the clinical expression of iron storage in patients predisposed to iron storage in adult life. Hemochromatosis might thus be considered as a polygenic disease with strong environmental influences on its clinical expression. As our mechanistic understanding of iron pathophysiology improves, our desire to integrate clinical decision making with the results of laboratory tests and molecular analysis of human genes poses increasing challenges.

Assessment of genetic testing and related counseling services: current research and future directions

With the recent completion of the sequencing of the Human Genome, genetic testing will increasingly become available for a greater number of medical conditions, many of which are those that manifest in adulthood (e.g., various cancers, cardiovascular disease, diabetes) or for which little or no treatments are available (e.g., Alzheimer disease). Genetic services, defined here as those relating to genetic testing and counseling, will be with helping more individuals deal with medical information that affects their health directly, as opposed to affecting primarily the health of their offspring. This paper reviews the existing research in the genetic testing and counseling literature and presents an evaluation framework outlining the intended outcomes of genetic services. The purpose of this framework is to provide an overview of the potential outcomes of these services and highlight constructs for future research in this area. In addition, other issues that will affect the assessment of genetic services are raised, using examples from the existing literature. Ultimately, the goal of this paper is to highlight and suggest directions researchers can take to produce the information needed to guide genetic testing and counseling practice. Moreover, as genetic knowledge is increasingly applied towards the prevention and treatment of various common, chronic disease conditions, genetic information will have implications for providers outside of the traditional medical genetics realm, such as primary care providers and public health practitioners. A better understanding of the outcomes of genetic testing and counseling will provide a basis from which to ensure an appropriate application of genetic information by all those who eventually provide care and “genetic” services.

Genetic testing for high-risk colon cancer patients

Colorectal cancer is the third leading cause of cancer-related deaths in both men and women in the United States and is estimated to have affected 148,000 people in 2002. The cumulative lifetime risk for colon cancer is approximately 5%–6%, and this risk is influenced by hereditary and lifestyle factors. In fact, 20%–30% of all colon cancer cases have a potentially definable inherited cause, and 3%–5% of colon cancers occur in genetically defined high-risk colon cancer family syndromes. Although the genes responsible for the cases of moderate-risk colon cancer remain to be characterized, many of the genes responsible for the high-risk colon cancer cases have already been determined. These genetic discoveries have been translated into clinical practice and have led to improved risk assessment through the use of genetic testing. The introduction into clinical practice of genetic testing for the assessment of colon cancer risk has led to more effective management strategies for patients with potentially high-risk colon cancer and has presented new challenges to the clinician because of the unique issues involved with genetic testing. In this review, an overview of the colon cancer high-risk syndromes, with a focus on the availability and indications for genetic testing, is presented.

The "new genetics" and clinical practice.

A "new genetics" has emerged driven by knowledge gained at the DNA level. In clinical practice, a practical application of the new genetics is DNA testing, which can be expected to expand with the completion of the Human Genome Project as the functions of new genes are discovered. Genetic DNA testing scenarios include diagnostic DNA testing, prenatal DNA testing, predictive (presymptomatic) DNA testing and screening DNA testing. The challenge for genetic DNA testing and clinical practice will be to define the roles to be played by the general practitioner, the specialist, and other healthcare professionals. From the patients' and families' perspective, the new genetics will best be implemented if a planned approach is adopted in the ordering of DNA tests and the associated counselling and support processes.

Legal and ethical considerations for genetic clinical research

AbstractFrom the trend in modern medicine toward the study of genes and their contribution to the development of disease has evolved an increased awareness of ‘the diversity of genetic fingerprints among individuals’ [1]. The incorporation of this knowledge into the technologies of the pharmaceutical industry has led to the emerging field of ‘pharmacogenomics’; that is, the process of identifying the differences in genetic sequences between individuals and developing therapies [2] as ‘personal medicines’ [3]. For example, a drug used as a muscle relaxant during surgery, suxamethonium, was found to be lethal to patients who possessed a rare version of a gene involved in nerve transmission so that now those who receive this drug are tested for this specific gene [4].Although pharmacogenomics promises great possibilities for the future of medicine, it does involve ethical and legal considerations that must be considered. Indeed, potential misuses of genetic information, such as discrimination in obtaining health insurance and in the workplace, need to be addressed. Genetic testing practices remain more advanced than the national and international laws governing the appropriate use of genetics. Although there is no national law in the United States that specifically addresses DNA and genetic privacy, several federal regulations would apply indirectly to the protection of this information and state legislators have successfully passed numerous state laws. Professional associations and private organizations have issued several guidelines for genetic testing practices.The purpose of this report is to provide a picture of the legal and ethical ramifications of genetic testing in clinical research. The genetic testing issue is presented herein in the categories of national, international, and state laws, policies, regulations and guidelines. Copyright © 2003 John Wiley & Sons, Ltd.

Genetic testing of children: confluence or collision between parents and professionals?

Nursing has been challenged to lead in all areas of knowledge development in genetics. In addition to participation in genetic counseling and research, the profession must be an advocate for the proper use of new clinical practices in genetic care. One of these areas is the largely unregulated practice of genetic testing of minor children. Psychological and bioethical concerns have been raised about testing children at parental request when no immediate benefit will result. Several professional bodies have urged the adoption of guidelines that would limit parental choice in the testing process. This article argues that little data exists to support the creation of strict regulations, and also notes that analysis of this issue through the use of alternative ethical theory can yield useful directions for nurses attempting to navigate this controversial topic.

Oversight of Genetic Testing: An Update

Oversight of Genetic Testing: An Update

Collective fear, individualized risk: the social and cultural context of genetic testing for breast cancer.

The purpose of this article is to provide a critical examination of two aspects of culture and biomedicine that have helped to shape the meaning and practice of genetic testing for breast cancer. These are: (1) the cultural construction of fear of breast cancer, which has been fuelled in part by (2) the predominance of a 'risk' paradigm in contemporary biomedicine. The increasing elaboration and delineation of risk factors and risk numbers are in part intended to help women to contend with their fear of breast cancer. However, because there is no known cure or foolproof prevention for breast cancer, risk designations bring with them recommendations for vigilant surveillance strategies and screening guidelines. We argue that these in effect exacerbate women's fears of breast cancer itself. The volatile combination of discourses of fear, risk and surveillance have significant ethical and social consequences for women's lives and well-being. Genetic testing decisions are made within this context; if nurses understand this context they can play an important role in helping women to cope with the anxiety and fear of breast cancer risk.

Genetic testing and health insurance practices: an industry perspective.

Genetic TestingVol. 2, No. 1 Genetic Testing and Health Insurance Practices: An Industry PerspectiveL. CARL VOLPEL. CARL VOLPESearch for more papers by this authorPublished Online:16 Mar 2009https://doi.org/10.1089/gte.1998.2.9AboutSectionsPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail FiguresReferencesRelatedDetailsCited byInfluence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among cliniciansGenetics in Medicine, Vol. 10, No. 9Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic DiscriminationThe American Journal of Human Genetics, Vol. 66, No. 1 Volume 2Issue 1Jan 1998 To cite this article:L. CARL VOLPE.Genetic Testing and Health Insurance Practices: An Industry Perspective.Genetic Testing.Jan 1998.9-12.http://doi.org/10.1089/gte.1998.2.9Published in Volume: 2 Issue 1: March 16, 2009PDF download

Introduction: the Sociology of Medical Science and Technology

Introduction: the Sociology of Medical Science and Technology

The social dynamics of genetic testing: the case of Fragile-X.

This article considers a program to screen school children for Fragile-X Syndrome as a way to explore several features of the growing practice of genetic testing in American society. These include the common practice of predictive testing in nonclinical settings; the economic, entrepreneurial, and policy interests that are driving the development of genetic screening programs; and the public support for genetic testing even when there are no effective therapeutic interventions. Drawing from research on popular images of genetics, I argue that cultural beliefs and expectations, widely conveyed through popular narratives, are encouraging the search for diagnostic information and enhancing the appeal of genetic explanations for a growing range of conditions.

Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace.Elaine Draper

Previous articleNext article No AccessBook ReviewsRisky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace. Elaine Draper William FreudenburgWilliam Freudenburg Search for more articles by this author PDFPDF PLUS Add to favoritesDownload CitationTrack CitationsPermissionsReprints Share onFacebookTwitterLinkedInRedditEmail SectionsMoreDetailsFiguresReferencesCited by American Journal of Sociology Volume 99, Number 3Nov., 1993 Article DOIhttps://doi.org/10.1086/230361 Views: 1Total views on this site Copyright 1993 The University of ChicagoPDF download Crossref reports no articles citing this article.

Genetic testing and genetic screening.

In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (see Scope Note 17, The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop legitimate pursuits (IV, Gaylin 1972) and whether genetic disease might come to be viewed as transmissible in the sense of being contagious (IV, Veatch 1974). Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992). Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting. Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983).

Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace.

Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace.

Book Review: Economic and Social Security and Substandard Working Conditions: Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace

Book Review: Economic and Social Security and Substandard Working Conditions: Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace

Risky business: Genetic testing and exclusionary practices in the hazardous workplace, by Elaine Draper. New York: Cambridge University Press, 1991, 315 pp. Price: $49.50 cloth, $15.95 paper

Journal of Policy Analysis and ManagementVolume 12, Issue 2 p. 399-403 Book Review Risky business: Genetic testing and exclusionary practices in the hazardous workplace, by Elaine Draper. New York: Cambridge University Press, 1991, 315 pp. Price: $49.50 cloth, $15.95 paper W. Kip Viscusi, W. Kip Viscusi W. KIP VISCUSI is the George G. Allen Professor of Economics at Duke University.Search for more papers by this author W. Kip Viscusi, W. Kip Viscusi W. KIP VISCUSI is the George G. Allen Professor of Economics at Duke University.Search for more papers by this author First published: 1993 https://doi.org/10.1002/pam.4050120220 AboutPDF 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 Volume12, Issue21993Pages 399-403 RelatedInformation