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PubMed1984

Genetic screening: marvel or menace?

Genetic screening is a systematic search in the population for persons of certain genotypes. The usual purpose is to detect persons who themselves or whose offspring are at risk for genetic diseases or genetically determined susceptibilities to environmental agents. Is genetic screening a marvel about to free us from the scourge of genetic disease or a menace about to invade our privacy and determine who may reproduce? There are three different types of genetic screening. Newborn screening identifies serious genetic disease at birth, permitting prompt treatment to prevent mental and physical retardation. Fetal screening and prenatal diagnosis identify genetic disease in the fetus permitting selective termination of pregnancy and the opportunity to have children free of defects detectable in utero. Carrier screening identifies individuals heterozygous for a gene for a serious recessive disease who may be at risk for affected offspring. The challenge to society is to provide (by way of cost-effective programs) expert services, including genetic counseling and follow-up, to all who may benefit, to ensure confidentiality and freedom of choice, and to avoid misunderstanding and stigmatization. It is recommended that the objective of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic diseases. Whenever possible, the providers of these services should be the providers of primary health care. Urgently needed are a greater awareness of avoidable genetic diseases on the part of primary care providers and efforts to familiarize the public with the basic concepts of human genetics through the public school system.

Amniocentesis↗
PubMedDate not supplied

Genetic Screening.

Explore the source record for details and available documents.

Genetic Diseases, Inborn↗
PubMed2004

Genetic screening: carriers and affected individuals.

Genetic screening utilizes analytical approaches adapted for high throughput to identify carrier and affected individuals in a targeted population. Currently, genetic screening focuses on carrier screening, prenatal screening, and newborn screening. Newborn screening should serve as a model for all genetic screening, with more than forty years of experience and numerous lessons learned. As with all genetic screening, there are policy concerns in newborn screening regarding which disorders and technologies should be selected, and how centralized or decentralized the process to set policy should be. The need to share experiences and develop databases transcends all other policy considerations in genetic screening. The future will see population-based screening for adult-onset disorders. However, there needs to be extensive research to define predictive risk for various ethnocultural groups and to determine effective interventions. Ethical concerns regarding the timing of population screening, as well as the scope of use of information, will need to be resolved if genomic medicine will achieve its promise of a predictive, preventive, and personalized medicine.

Genetic Carrier Screening↗
PubMed1991

Population-based genetic screening.

A preventive genetic programme aimed to control beta-thalassemia in the Sardinian population is based on a combination of increased awareness of the population, carrier screening, genetic counselling and prenatal diagnosis. As a result, the registry of thalassemia major demonstrated a profound decline in the incidence of this disease from 1 per 250 to 1 per 1200 live births, with 90% of cases effectively prevented.

Adult↗
PubMed2001

Estimating the efficacy and efficiency of cascade genetic screening.

Screening for genetic variants that predispose individuals or their offspring to disease may be performed at the general population level or may instead be targeted at the relatives of previously identified carriers. The latter strategy has come to be known as "cascade genetic screening." Since the carrier risk of close relatives of known carriers is generally higher than the population risk, cascade screening is more efficient than population screening, in the sense that fewer individuals have to be genotyped per detected carrier. The efficacy of cascade screening, as measured by the overall proportion of carriers detected in a given population, is, however, lower than that of population-wide screening, and the respective inclusion rates vary according to the population frequency and mode of inheritance of the predisposing variants. For dominant mutations, we have developed equations that allow the inclusion rates of cascade screening to be calculated in an iterative fashion, depending upon screening depth and penetrance. For recessive mutations, we derived only equations for the screening of siblings and the children of patients. Owing to their mathematical complexity, it was necessary to study more extended screening strategies by simulation. Cascade screening turned out to result in low inclusion rates (<1%) when aimed at the identification of heterozygous carriers of rare recessive variants. Considerably higher rates are achievable, however, when screening is performed to detect covert homozygotes for frequent recessive mutations with reduced penetrance. This situation is exemplified by hereditary hemochromatosis, for which up to 40% of at-risk individuals may be identifiable through screening of first- to third-degree relatives of overt carriers (i.e., patients); the efficiency of this screening strategy was found to be approximately 50 times higher than that of population-wide screening. For dominant mutations, inclusion rates of cascade screening were estimated to be higher than for recessive variants. Thus, some 80% of all carriers of the factor V Leiden mutation would be detected if screening were to be targeted specifically at first- to third-degree relatives of patients with venous thrombosis. The relative cost efficiency of cascade as compared with population-wide screening (i.e., the overall savings in the extra managerial cost of the condition) is also likely to be higher for dominant than for recessive mutations. This notwithstanding, once screening has become cost-effective at the population level, it can be expected that cascade screening would only transiently represent an economically viable option.

Computer Simulation↗
PubMed1999

Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses.

Screening for genetic disorders, particularly Tay-Sachs Disease, has been traditionally welcome by the Jewish community. I review the history of genetic screening among Jews and the views from the Jewish tradition on the subject, and then discuss ethical challenges of screening and the impact of historical memories upon future acceptance of screening programs. Some rational principles to guide future design of genetic screening programs among Jews are proposed.

Abortion, Therapeutic↗
PubMed2003

[Evaluation of genetic screening. The problem of hidden value judgements, conceptual arbitrary attitudes and methodological leeway in the so-called screening process].

Population-wide genetic screenings can multiply benefits, but may also increase risks and other adverse effects of genetic testing. Insofar, there is a particular need for legitimization of genetic screenings. Health economic calculus and the so-called "screening ratios" aim to relate information about potential costs to potential benefits. Their implicit claim of being rational, however, can only be realised partially, since each concept is based on a number of value judgements allowing for different decisions, which can be a critical outcome factor. All the more so, since different players use different ratios. Against this background, disclosure of normative foundations and perspectives in cost-benefit ratios of genetic screenings seems to be imperative.

Genetic Testing↗
PubMed2000

Confused legal and medical policy: the misconceptions of genetic screening.

Misconceptions about genetics and genetic decision-making lead to confused moral and legal policy in this area. Clarification is needed and provided about the nature of 'genetic disease' as not just an individual malady and often of multiple causation; about the stigma of guilt and discrimination which attends a label of genetically diseased; about the manner in which genetic decision-making impacts others making decisional privacy and confidentiality more problematic. The possibility of applying a public health model to genetic screening is explored and dismissed. A modified rights model, which gives more attention to familial obligations, is recommended with focus on a subjective substantial disclosure type of informed consent as appropriate to genetic decision-making.

Attitude to Health↗
PubMed1991

Genetic screening: triumphs, problems, and controversies.

As genetic screening becomes more widespread, it becomes increasingly important to analyze the manifold implications of genetic screening programs. This paper characterizes the various types of programs and discusses some of the scientific, ethical, social, and economic issues that arise in evaluating any genetic screening program. Two examples of successful programs, newborn screening for phenylketonuria and carrier detection for Tay-Sachs disease, are presented. We then discuss three other screening programs that have not yet been fully implemented but which have already engendered a great deal of controversy: mass screening for heterozygosity for cystic fibrosis, DNA fingerprinting in the criminal justice system, and genetic screening in the workplace.

Cost-Benefit Analysis↗
PubMed1998

Genetic screening and ethics: European perspectives.

Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns but also reflect the novelty of genetic services. In most countries, the focus for genetic screening programs has been pregnant women and newborn children. Newborn children are screened only for disorders which are treatable. Prenatal screening when provided is for conditions for which termination may be offered. The only population screening programs for adults are those for thalassaemia carrier status in Cyprus, Greece and Italy. Social responses to genetic screening range from acceptance to hostility. There is a fundamental tension between individual and community in the debates in various European countries about implementation of screening programs. Opposition to genetic screening is frequently expressed in terms of arguments about "eugenics" with insufficient regard to the meaning of the term and its implications. Only a few countries have introduced explicit legislation on genetic screening. Legislation to address discrimination may provide more safeguards than legislation protecting genetic information itself.

Adult↗
PubMed1982

Public policy implications of human genetic technology: genetic screening.

As rapid advances in human genetic research are transferred into new areas of genetic technology, questions relating to the use of these techniques will escalate. This paper examines some of the policy concerns surrounding recent developments in genetic screening. It discusses the impetus and implications of genetic screening in general, examines various applications, and analyzes the costs and benefits of screening programs currently in existence. Special emphasis is placed on whether or not screening should be considered a matter of public health and mandated on those grounds. This paper argues against any compulsory screening programs except where the disease is easily identified, applicable across social groups, and treatable. While screening services for carriers of genetic disease and prenatal diagnosis should be made available and education programs should be expanded substantially, the burden of proof for involuntary programs is placed on the proponents. There is little public health justification at this time for mandatory screening though this does not preclude future public health demands. It is argued that the goals and justification of various human genetic technologies must be examined at this time due to the rapid advancement of the research as well as the ultimate benefits promised for humankind.

Cost-Benefit Analysis↗
PubMed1997

Ethical issues in genetic screening for cancer.

Genetically-based diseases with a late onset, such as BRCA1-dependent breast cancer or Huntington's disease, can be predicted by the screening of relevant mutations in members of high-risk families. Genetic screening is characterized by a conflict between respect for autonomy--e.g., the 'right not to know'--and responsibility toward future generations (the 'duty to know' for the sake of one's descendants). Other ethical conflicts are related to uncertainty as to benefits deriving from screening for mutations, since for most conditions no clearly effective therapeutical strategy has as yet been defined. In addition to monogenic high-penetrance conditions, polygenic low-penetrance susceptibility is attracting increasing attention, in particular with respect to environmental-genetic interactions (metabolic polymorphisms). A simple approach to genetic screening would be to weigh the benefits and costs of genetic screening against those of primary prevention, and a superficial conclusion might be that genetic screening is less expensive and, overall, more practicable than restriction of toxic exposures or other known risk factors for the disease. Economic advantage notwithstanding, however, giving precedence to screening over primary prevention would be unacceptable. A serious hazard of genetic screening is the implicit limitation of research efforts aimed at primary prevention, and a serious drawback is its potential application for selection of nonsusceptible employees. The principle of equity is easily violated by genetic screening of workers in view of the fact that genetically-based metabolic polymorphisms are distributed unevenly among different ethnic groups.

Beneficence↗
PubMed1978

Stigmatization of carrier status: social implications of heterozygote genetic screening programs.

Possible latent psychological and social consequences ensuing from genetic screening programs need to be investigated during the planning phase of national genetic screening programs. The relatively few studies which have been performed to determine psychological, social, and economic consequences resulting from a genetic screening program are reviewed. Stigmatization of carrier-status, having major psychosocial implications in heterozygote genetic screening programs, is discussed and related to Erving Goffman's work in the area of stigmatization. Questions are raised regarding the relationship between such variables as religiosity and sex of the individual and acceptance of the status of newly identified carrier of a mutant gene. Severity of the deleterious gene and visibility of the carrier status are two important factors to consider in an estimation of potential stigma. Specific implications are discussed for four genetic diseases: Tay-Sachs, Sickle-Cell Anemia, Huntington's disease and Hemophilia.

Anemia, Sickle Cell↗
PubMed1999

Newborn genetic screening: blessing or curse?

Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

Ethics, Nursing↗
PubMed2002

The art and design of genetic screens: Arabidopsis thaliana.

Molecular genetic studies rely on well-characterized organisms that can be easily manipulated. Arabidopsis thaliana--the model system of choice for plant biologists--allows efficient analysis of plant function, combining classical genetics with molecular biology. Although the complete sequence of the Arabidopsis genome allows the rapid discovery of the molecular basis of a characterized mutant, functional characterization of the Arabidopsis genome depends on well-designed forward genetic screens, which remain a powerful strategy to identify genes that are involved in many aspects of the plant life cycle.

Alleles↗
PubMed1998

Genetic screening of prospective oocyte donors.

OBJECTIVE: To report our experience with genetic screening of oocyte donor candidates and to determine the frequency with which significant genetic issues are identified. DESIGN: Prospective genetic screening of oocyte donor candidates. SETTING: University hospital oocyte donation program. PATIENT(S): Women presenting consecutively as volunteer oocyte donors. INTERVENTION(S): Genetic screening was performed by pedigree analysis and laboratory studies. MAIN OUTCOME MEASURE(S): Inclusion in the oocyte donor pool based on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction based mutational analysis for cystic fibrosis carrier status, cytogenetic analysis for karyotype, enzymatic assay for Tay-Sachs disease carrier status, and complete blood count and hemoglobin electrophoresis. RESULT(S): Eight (11%) of 73 oocyte donor candidates were excluded from the donor pool because of a potentially serious genetic finding. Cystic fibrosis mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant skeletal dysplasia was identified in 1 (1.4%). CONCLUSION(S): A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing results. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize positive outcomes in pregnancies achieved through assisted means.

Adolescent↗
PubMed1985

Planning a statewide genetic screening program: defining program functions to achieve desired outcomes.

When responsibility for administering the Genetic Screening Program in Georgia was transferred from an academic institution to state authority in 1982, the need was identified to reassess program planning. Accordingly, a cooperative effort was initiated between the Director of the Genetic Screening Program and representatives of the Centers for Disease Control to define desired program outcomes and the functions that should be performed to achieve these outcomes. This cooperative effort resulted in the development of specific and measurable outcomes for Georgia's Genetic Screening Program. These desired outcomes indicate the degree of reduction in morbidity and mortality associated with genetic diseases the Program is expected to achieve within a specified period of time. The major actions that should be taken to achieve these outcomes were also identified and delineated in sequence using flowchart format. These explicit descriptions of desired program outcomes and the functions necessary to achieve these outcomes provide the Genetic Screening Program Director with a valuable resource to use in planning program activities and assessing the extent to which the Program is successful in achieving its overall goal of reducing morbidity and mortality associated with genetic diseases.

Anemia, Sickle Cell↗