American Academy of Pediatrics, The Task Force on Genetic Screening: The pediatrician and genetic screening (every pediatrician a geneticist).
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Chromosome Aberrations↗
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Results for “genetic screen”
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Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.
Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.
Genetic Counseling↗
Genetic screening and genetic counseling: knowledge, attitudes, and practices in two groups of family planning professionals.
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Adult↗
Psychological implications of genetic screening.
Providing genetic information about the risk of developing certain conditions or passing them on to children has far-reaching implications for how people act, think and feel with regards to their health and themselves. Not all of these effects are intended or desirable. Likely interventions to reduce some of the adverse effects may include educational programs aimed at the general population as well as those presenting the tests. Legislation to protect the rights of those being tested may also be required. Well-planned studies are needed to document the psychological effects of genetic screening and to determine how the benefits can be maximized and any adverse effects minimized. Unless these data are collected we will have no way of refuting the assertion made over fifteen years ago by Kuhr that the benefits of population-based genetic screening have not been shown to outweigh the psychological costs (Kuhr, 1975).
Congenital Abnormalities↗
Genetic screening: whose responsibility?
Genetic screening offers the possibility of reducing the suffering due to genetic defects. For the foreseeable future, genetic screening by lay or governmental organizations can do only a small part of the job needed. Hence, the major responsibility falls on the personal physician. A careful family history is the best single genetic screening device. Discussing genetic risks with patients requires careful attention to the patient's difficulties in understanding the concept of probability, his psychological defense reactions, and differences in individual values. For complex cases, help is available in your region.
Disclosure↗
Genetic Screening.
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Genetic Diseases, Inborn↗
Ethical issues in genetic screening; models of genetic responsibility.
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Ethics↗
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↗
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↗
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↗
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↗
Ethical aspects of genetic screening.
Public and professional concern associated with the idea of genetic screening has generated numerous publications on the ethics of genetic screening (e.g. 1-4). Concerns revolve around inadequate consultation before screening is carried out, the unearthing of worrying risks, the use of genetic information in ways that could be disadvantageous to the person involved, stigma, and a phenomenon known as the 'technological imperative', which means that simply because a technology is available there is a tendency to use it. Most reports agree that, in practice, the main ethical problems are likely to involve screening for risk of common diseases of adult life, because of the possible impact on a person's healthy self-image, implications for health and life insurance, and the possibility of commercial exploitation of people who know themselves to be vulnerable. In this paper I do not propose to address these issues directly. I have been invited to discuss this subject as a clinician involved with genetic screening, counselling and prenatal diagnosis for the haemoglobin disorders, the most common serious human recessively inherited diseases. Since we are scientists, any recommendations we make should be based on experience: my aim is to show that experience is often surprising, and that it is often possible to meet public concerns by taking quite simple practical steps.
Ethics, Medical↗
Delivery of genetic screening services.
This paper describes the genetic services in the United Kingdom and how the evolution of genetic screening services is taking place. Since these Community Genetic Services depend on the offer of a screening test that affects the whole population, it is essential that the community is given genetic education and an opportunity to discuss the issues before services are initiated. In this way, the differing beliefs and needs of individual communities are appropriately taken into account. The development of screening services for cystic fibrosis will show whether this community-orientated model can be successful.
Community Health Services↗
An economic evaluation of a genetic screening program for Tay-Sachs disease.
The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives.
Cost-Benefit Analysis↗
The stigma of disease: implications of genetic screening.
As the field of human genetics successfully continues to unravel the secrets of an individual's genetic makeup, the social processes of stigmatization and ostracism of those with "undesirable" traits have the potential to increase. An historical example that may shed light on the problems of applying genetic technology to disease prevention is the institution of quarantine. This essay discusses the concept of "quarantine mentality" and the desire for healthy society to separate itself from those labeled "ill" or abnormal, and addresses two episodes in American history when genetics was applied to the formulation of social policy toward the "diseased": the eugenics movement of the early 20th century and the early attempts of genetic screening programs for sickle cell anemia during the 1970s.
Anemia, Sickle Cell↗
Genetic screening of prospective parents and of workers: some scientific and social issues.
Genetic screening programs are based on assumptions and values that reflect the history of racial and social eugenics in the United States and Europe. They stigmatize individuals by shifting the focus from social, economic, and political decisions that affect the health of prospective parents, newborns, and workers to "bad genes," that is, intrapersonal factors that are given the status of "causes" of disease. Prenatal screening, at best, can help the relatively few individuals who know that their future children are at risk for a particular inherited disease or disability; it has little positive value for the average person. Workplace genetic screening has not been shown to reduce occupational disease, but it has led to employment discrimination and has drawn attention away from controlling exposures to toxic chemicals in the workplace.
Amniocentesis↗
Effects of genetic screening on perceptions of health: a pilot study.
The aim of the current study was to determine how carriers of a recessive gene, which confers no risk to their own health, perceive their health, relative to non-carriers. Perceptions of health in three groups were compared: those screened and found to carry the gene for Tay-Sachs disease, those screened and not found to carry the gene for Tay-Sachs disease, and a community based sample who, it was presumed, had not undergone screening. The groups did not differ in their perceptions of their current health or their past health. Carriers, however, viewed their future health with less optimism than the other two groups. The causes and consequences of this altered perception need to be explored in future studies. With the advent of population based screening for cystic fibrosis carrier status, these results highlight the importance of assessing in detail people's experiences of screening before the introduction of any mass genetic screening programmes.
Adult↗
A genetic screen to identify variants of bovine pancreatic trypsin inhibitor with altered folding energetics.
A genetic screening procedure has been developed to identify mutant forms of bovine pancreatic trypsin inhibitor (BPTI) that can fold to an active conformation but are inactivated more rapidly than the wild-type protein. Small cultures of Escherichia coli containing plasmids with mutagenized BPTI genes were grown in microtiter plates, lysed, and treated with dithiothreitol (DTT). Under these conditions, unfolding and inactivation of the wild-type protein has a half-time of about 10 hours. Variants of BPTI that are inactivated within 1 hour were identified by adding trypsin and a chromogenic substrate. Approximately 11,000 mutagenized clones were screened in this way and 75 clones that produce proteins that can fold but are inactivated by DTT were isolated. The genes coding for 68 "DTT-sensitive" mutant proteins were sequenced, and 25 different single amino acid substitutions at 15 of the 58 residues of the protein were identified. Most of the altered residues are largely buried in the core of the native wild-type structure and are highly conserved among proteins homologous to BPTI. These results indicate that a large fraction of the sequence of the protein contributes to the kinetic stability of the active conformation, but it also appears that substitutions can be tolerated at most sites without completely preventing folding. Because this genetic screen is based on changes in folding energetics, further studies of the isolated mutants are expected to provide information about the roles of the altered residues in folding and unfolding.
Amino Acid Sequence↗