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 screening”
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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↗
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↗
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↗
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↗
Genetic screening in Western Australia.
The wider application of genetic screening is described in four Western Australian populations. Counselling with prenatal diagnosis of Down's syndrome was offered to 57 women over the age of 35 years and less than 16 weeks' gestation who attended an antenatal outpatients department. Forty-four women consented to amniocentesis and two affected fetuses were found. Both public and private patients can be screened to detect fetuses with Down's syndrome. In a population of 200 pregnant girls whose infants were intended for adoption, a specially designed family history form aided identification of genetic disorders in 32 families. Counselling was offered to the biological parents, to the adoptive parents, and, prospectively, to the child in later years. The effectiveness of the family history as a screening device is illustrated in this adoption sample. Counselling of parents of 20 decreased malformed infants initiated the genetic counselling clinic in Western Australia and led to subsequent referral of 92 similar cases by the family doctors. It was found that parents who gave birth to malformed infants welcome information and risk figures. Diagnostic screening in a population of 6000 intellectually handicapped individuals yielded 1372 cases (23%) with Mendelian, multifactorial, or chromosomal modes of inheritance. This screening enabled patients with inherited causes for their intellectual handicap to be identified and placed on a register for health planning.
Abortion, Induced↗
Some influences on public participation in a genetic screening program.
To identify the psychosocial factors associated with voluntary cooperation in mass genetic testing, stratified random samples of 500 participants and 500 nonparticipants were drawn from an identified at-risk population for Tay-Sachs disease. Participants were relatively younger and better educated, reported higher levels of perceived susceptibility to being a carrier, and also stated more often that the impact of learning of being a carrier would be low. Participants were also more likely to indicate they would not alter plans for future progeny. Recommendations are made for enhancing participation in future genetic screening programs of this type.
Adolescent↗
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics.
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Aging↗
Effect of Intracytoplasmic Sperm Injection Alone versus ICSI and Preimplantation Genetic Screening on Pregnancy Outcomes of Patients with A History of Gestational Trophoblastic Disease: A Retrospective Study.
OBJECTIVE: Gestational trophoblastic disease (GTD) is characterized genetically by an excess paternal genome and maternal chromosome loss. Intracytoplasmic sperm injection (ICSI) and ICSI with preimplantation genetic screening (PGS) enhance the selection of viable embryos by ensuring that only those with the appropriate genetic makeup are implanted. We aimed to evaluate the pregnancy outcome following ICSI and ICSI/PGS in infertile women with a history of GTDs. MATERIALS AND METHODS: In this retrospective study, we recruited couples who were referred to the Royan Institute with infertility complaints with GTD history from 2010 to 2022. GTD had been confirmed by serial β-human chorionic gonadotrophin (β-hCG) titer, ultrasonography, and histopathology assessment of the evacuated uterine contents. The fluorescent in situ hybridization (FISH) probes were specific for the chromosomes 13, 18, 21, X, and Y. RESULTS: A total of 69 cycles of ICSI (n=41) and ICSI/PGS (n=28) were analyzed. The two treatment groups were comparable in terms of patients' demographic characteristics. The mean number of total retrieved oocytes, MII oocytes, and obtained embryos in the ICSI/PGS cycle was higher compared to the ICSI cycle (P<0.001 for all). Also, a statistically significant difference between groups in the mean number of poor embryos (P=0.004) was found. No statistically significant difference was observed in clinical pregnancy, miscarriage, and live birth rates per embryo transfer (ET) between groups. The findings indicate that 27.2% of embryos exhibited genetic normalcy in the ICSI/PGS group. CONCLUSION: Despite achieving more embryos in ICSI/PGS cycles, the success rates of pregnancy in both groups are approximately the same. Both of these methods can be effective in the management of women with the previous GTD. Considering the high costs and the necessity to eliminate 46XX embryos during PGS procedures, it is advisable to restrict this method to cases with a significant risk of recurrent GTD.
Embryonic Development↗