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PubMed1998

Application of a bogus testing procedure to determine college students' utilization of genetic screening for alcoholism.

A convenience sample of 181 college students took part in a quasi-experimental study that tested the use of genetic screening for alcoholism--a test that does not yet exist. A questionnaire was administered before and after the students viewed a presentation that accurately explained genetic susceptibility to alcoholism but misled them by offering "a newly available" test. Alcohol-related variables were assessed before the presentation. Test-seeking intention and reasons for and against testing were assessed after the presentation. Regression analysis found that being Caucasian, female, and somewhat older than traditional college age, and having a history of early drunkenness were significant predictors of testing intention. During the week following data collection, only 7 participants (4%) attempted to schedule a test. Implications of these findings and the ethical issues related to predictive screening for alcoholism in the college population are discussed.

Adolescent↗
PubMed2004

Natural settings trials--improving the introduction of clinical genetic tests.

Approaches to genetic testing differ in the research setting and the clinical setting. More data are needed to develop approaches that will best facilitate the use of new genetic tests in the clinical setting, especially settings where genetic testing has not been widely used, such as in primary care. Furthermore, data are needed to establish the clinical utility of new genetic tests in the general practice setting. Natural setting trials are proposed as a strategy to develop this information. While natural setting trials are clinical research studies and will expose participants to some degree of risk, the risks are different, and arguably less than the risks those same individuals would otherwise face if the test went directly into clinical practice. Ultimately, clinical practice and safety of new genetic tests can be improved by adding the evaluation provided by natural setting trials.

Biomedical Research↗
PubMed1993

Recent developments in drug design: computational chemistry and models of the interaction of ligands with receptors.

Recent articles and advertisements suggest that drug design is within the reach of any chemically oriented scientist who obtains the latest three-dimensional computer graphics programs for his personal computer. This sort of "rational" drug design has however had limited success. When it has been successful, it has required the rigorous application of computational chemistry. Bowen et al. in their accompanying paper provide a summary of a number of approaches and the assumptions involved. The papers by McDonnell et al. and Hendry describe two different approaches: utilizing molecular genetics to test the effective interaction in vitro of ligands with their receptors and utilizing the model structure of DNA as a blueprint for the structure of the intracellular targets of drugs.

Computer Graphics↗
PubMed2005

Ethical issues in the use of genetic information in the workplace: a review of recent developments.

PURPOSE OF REVIEW: In the wake of the Human Genome Project, the pace of genetic discovery has quickened. New genetic tests and other molecular technology have had immediate and wide relevance to American and European workers. These tests have the potential to provide improved workplace safety and protect workers' health, but they also carry the risk of genetic discrimination including loss of employment, promotion, insurance and health care. Ethical safeguards are necessary if the benefits are to outweigh the adverse consequences of genetics in the workplace. RECENT FINDINGS: This review examines the major policy statements issued in Europe and the USA from 2000 to 2005 pertaining to genetic issues in occupational health. Recent findings stress that genetic testing can only be utilized with worker consent and that the workers should control access to genetic information. Such testing is only justified when the information is required to protect the safety of the worker or a third party. The progress of occupational genetic technology should not be permitted to shift the responsibility for a safe working environment from the employer to the employee. Genetic discrimination in all forms is neither supported scientifically nor warranted ethically. SUMMARY: Increasingly, occupational physicians and clinicians treating workers will be faced with potentially stigmatizing genetic information and there is an urgent need for education and research to expand and implement the recommendations of major governmental and professional policy statements.

Editorial↗
PubMed2024

Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.

PURPOSE: The objective of this study is to assess the carrier frequency and pathogenic variation of monogenetic diseases in a population of 114 subjects in Han Chinese from Hebei province who are undergoing assisted reproductive technology through the utilization of Expanded Carrier Screening (ECS). METHODS: The study utilized a panel consisting of 155 severe monogenic recessive genetic diseases for ECS. Next-generation sequencing technology was employed to identify specific variants associated with ECS in a cohort of 114 subjects from 97 couples, comprising 97 females and 17 male spouses. RESULTS: A total of 114 individuals received ECS. The carrier rate of pathogenic genes in the enrolled population was 44.74% (51/114). Among the 97 females, the carrier rate of pathogenic genes was higher in those without assisted reproduction indicators than in those with assisted reproduction indicators (59.09% vs. 41.33%). However, the carrier rate of pathogenic genes in males without assisted reproductive technology was slightly lower than that with assisted reproductive technology (40% vs. 41.67%). Among both female and male participants, the carrier rate of pathogenic genes between individuals without indicators of assisted reproduction and those with such indicators was 55.55% vs. 41.38%. In 51 carriers, 72.55% (37/51) carried one genetic variant, 25.49% (13/51) carried two genetic variants, and 1.96% (1/51) carried three genetic variants. A total of 38 pathogenic genes were detected in this study, and GJB2 and MMACHC were most common. The carrier rates of the two genes were both 5.26% (6/114). A total of 55 variations were detected, and c.235delC was most frequently found. The carrier rate was 3.51% (4/114). The incidence of couples carrying the same pathogenic genes was 1.03% (1/97). CONCLUSIONS: The findings elucidate the carrier rate of pathogenic genes among 155 severe monogenic recessive genetic diseases and underscore the significance of ECS as a preventive measure against congenital anomalies. When both partners carry the same genetic mutation for a monogenic disease, preventive strategies can be taken in offspring through preimplantation genetic testing (PGT), prenatal genetic testing, or the utilization of donor gametes. ECS is instrumental in assessing reproductive risk, guiding fertility-related decisions, and reducing the prevalence of monogenic recessive genetic disorders in subsequent generations.

Humans↗
PubMed2004

Genetic testing for enzymes of drug metabolism: does it have clinical utility for pain medicine at the present time? A structured review.

STUDY DESIGN: This is a structured review of genomic (genetic) testing for enzymes of drug metabolism. OBJECTIVES: Recently, industry began offering genomic testing for enzymes of drug metabolism. As such, the objective of this review was to determine if genomic testing for enzymes of drug metabolism has any imminent clinical relevance for the practice of pain medicine. METHODS: Relevant references relating to pharmacogenetics, pharmacogenomics, and the metabolizing of drugs used in pain medicine by cytochrome P-450 enzymes were located and reviewed in detail. The P-450 enzymes that metabolize each drug and whether that drug had been identified as being subject to a clinical consequence of a genetic polymorphism of the P-450 enzyme involved in its metabolism were placed into tabular form. RESULTS OF DATA SYNTHESIS: 1) For a large number of drugs, we do not yet know which cytochrome P-450 enzymes are involved in their metabolism; 2) For a large number of drugs, the consequences of a P-450 genetic polymorphism have yet to be determined; 3) Genetic polymorphism can lead to important potential clinical consequences for some opioids, anticonvulsants (phenytoin), benzodiazepines (diazepam), muscle relaxants (succinylcholine), antidepressants (imipramine, nortriptyline, venlafaxine), typical neuroleptics, alcohol, antihypertensives (propranolol, timolol), local anesthetics (procainamide), L-dopa, nicotine, and warfarin. Based on these results, factors for and against using genomic testing were reviewed. CONCLUSIONS/RECOMMENDATIONS: It was concluded that genomic testing for enzymes of drug metabolism has significant potential for improving the efficacy of drug treatment and reducing adverse drug reactions. Recommendations for when such testing would be useful are outlined.

Analgesics↗
PubMed2005

Genetic testing in Parkinson's disease.

Parkinson's disease (PD) is a common neurodegenerative disorder of adulthood characterized clinically by rigidity, bradykinesia, resting tremor, and postural instability. The annual incidence of PD ranges between 16 and 19 individuals per 100,000 (Twelves et al., Mov Disord 2003;18:19-31). Historically, PD has been commonly viewed as an idiopathic or environmentally triggered condition. However, as is true with most common conditions, there have been several families reported with PD who demonstrate a classic Mendelian pattern of inheritance. To date, nine genetic loci have been reported and four pathogenic genes have been identified: alpha-synuclein, parkin, DJ1, and PINK1. Families with alterations in these genes or linked sites demonstrate either recessive or dominant inheritance patterns and may have typical and/or atypical symptoms, with an age of onset extending from the second to the sixth decade. Commercial tests for parkin and alpha-synuclein mutations are now available. We predict that physicians, particularly neurologists, increasingly will be approached for information and referrals regarding genetic testing. To assist patients and their families, physicians will not only need to know when such testing is likely to yield a meaningful result but also be aware of the possible social and emotional consequences of testing. The following is a review of what is currently known about the genetics of PD within this context. We discuss what is known about genetic testing for Huntington's disease, a well-described model for genetic testing in a neurodegenerative disorder. We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes.

Family Health↗
PubMed1989

[Genetics and coronary heart disease].

The article reviews some of the evidence that genetic factors are important in the etiology of coronary heart disease (CHD). Having a first degree relative with CHD at a relatively young age is in itself a risk factor that may not be reflected in increased lipid levels. Several genetic polymorphisms are associated with risk factor level and/or CHD, and genes have a significant effect on the level of several risk or "anti-risk" factors. Lp(a) lipoprotein, which exhibits a definite association with CHD, is under strict genetic control. A high level of Lp(a) lipoprotein does not in itself result in increased lipid levels, and it is therefore necessary to conduct specific tests with regard to this important genetic risk factor. DNA variation at several apolipoprotein loci has been examined and several associations with risk factor levels have been reported. Present knowledge of genetic predisposition to CHD should be utilized in predictive genetic testing to prevent disease, preferably within a framework of family-oriented preventive medicine.

Coronary Disease↗
PubMed2005

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung disease and later tumors of neural crest origin. Study of genes related to the autonomic dysregulation and the embryologic origin of the neural crest has led to identification of the genetic basis for CCHS, the mode of inheritance, and the presence of mosaicism in a subset of parents. Polyalanine expansion mutations in PHOX2B have been identified to be the disease-defining mutation in CCHS, with a small subset of patients having other mutations in PHOX2B. Further, the size of the polyalanine repeat mutation in PHOX2B is correlated with the severity of the phenotype in CCHS, and non-polyalanine repeat mutations appear to, in general, result in CCHS phenotypes at the severe end of the spectrum. These studies highlight the utility of PHOX2B genetic testing for confirmation of the CCHS diagnosis, for prenatal diagnosis, and for identification of previously undiagnosed adults with unexplained hypercarbia or control of breathing deficits. This diagnostic approach may be a consideration for other complex, seemingly undecipherable diseases that affect infants and children. The purpose of this article is to provide a comprehensive review of current research into the genetic basis for CCHS, an explanation for how these studies evolved, recent studies that begin to explain the mechanisms through which mutations in PHOX2B exert their effects, and clinical application of the genetic testing.

Child↗
PubMedDate not supplied

Genetic effects of chromium compounds.

Seven different test systems were utilized to investigate the genetic activity of chromium compounds: infidelity of DNA replication in vitro by DNA pol alpha from calf thymus, damage of DNA detected by alkaline elution in treated mammalian cells or in DNA purified and treated in vitro, DNA repair synthesis in mammalian cells in vitro detected by autoradiography or scintillation counting after labelling with [3H]dThd, gene mutations in the Salmonella typhimurium Ames test, gene mutations (6TG resistance) in cultured hamster cells, sister-chromatid exchanges in different rodent cell cultures, and transformation to anchorage-independent growth of hamster cells in vitro (soft-agar assay). Potassium dichromate and chromium chloride were used as water-soluble Cr(VI) and Cr(III) salts. Several reference mutagens (EMS, MMS, MMC, 4NQO) were included in the single tests as positive controls. Cr(VI) was active in all the tested systems, except in the induction of DNA damage and DNA repair synthesis in cultured cells. Cr(III), on the other hand, was absolutely inactive unless a direct interaction with purified DNA was permitted by the test conditions. The relevance of data from the various tests to the understanding of the mechanisms of the genotoxic activity of chromium is discussed. Effects other than the direct interaction of Cr(III) with DNA are inferred, which can cause infidelity of the DNA polymerase functions.

Animals↗
PubMed1996

Multicomponent criteria for predicting carcinogenicity: dataset of 30 NTP chemicals.

This article is in response to the challenge issued to the scientific community by the National Toxicology Program to predict the carcinogenicity potential of 30 chemicals previously selected for long-term carcinogenicity testing. Utilizing the available toxicologic, genetic, and structural information on 30 chemicals previously selected for long-term carcinogenicity testing, we predict that 16 chemicals (53%) would induce some indication of carcinogenic activity in rodents; we further predict that 10 chemicals (33%) would be associated with weak or equivocal carcinogenic responses, and another 4 (13%) would give no indication of carcinogenicity. Our level of certainty is indicated for many of these predictions. Nonetheless, we believe that most instances of guessing whether a chemical would eventually induce cancer in experimental animals and hence represent a carcinogenic hazard to humans are fraught with considerable uncertainty: uncertainty that can only be relieved by long-term testing for carcinogenicity in animals or by conducting an epidemiologic investigation of exposed individuals or groups. We further believe that the day may come when our predictive acumen will be upgraded to such an extent that we might eventually obviate cancer testing. Until then, and in the best interests of public health, however, we urge long term testing of chemicals in animals be continued, at increased pace.

Animals↗
PubMed2004

The dawn of genetic testing for glaucoma.

PURPOSE OF REVIEW: To review recent trends in genetic testing in medicine as they apply to newly evolving tests for patients with glaucoma. RECENT FINDINGS: The utilization of powerful molecular methods for genetic testing is now entering its early stages in the practice of medicine in general, and with testing, many issues, both medical and societal, have been raised. Only recently has testing for a disease risk factor in primary open angle glaucoma (POAG) become available. It is known that some mutations in the gene myocilin are associated with POAG. MYOC.mt1 is a relatively common promoter region variant in the myocilin gene for which there is a commercially available test. Some investigators have found that MYOC.mt1 may increase disease severity in patients with POAG, whereas others have not found this association. There is a need for further testing for the role of the MYOC.mt1 variant in the pathogenesis of POAG. SUMMARY: Genetic testing for glaucoma holds great promise. Currently available tests for disease-related tests in patients with glaucoma or at risk for this disease remain controversial.

Cell Cycle Proteins↗
PubMed1986

The use of nonmetric variation in estimating human population admixture: a test case with Brazilian blacks, whites, and mulattos.

Measurements in populations which serve as valid indicators of biological relationship should be proportional to genetic distance. In order to test the utility of discrete cranial traits for estimating genetic distances among populations, estimates of admixture are obtained for gene frequency data and nonmetric cranial data in São Paulo mulattos (M). The gene frequency data serve as a control that the three populations are related as stated: estimates of admixture are obtained by using São Paulo whites (W) and blacks (B) as parental populations and by estimating the parameter of admixture, m, in the model pM = (1 - m) pW + mpB (Elston, 1971) where the p's are either gene frequencies or nonmetric trait frequencies. A test of goodness of fit of the model provides a means of ascertaining whether or not the data fit this linear model. While the gene frequency data indicate distances among the three populations which are highly compatible with the linear model of admixture, the nonmetric data show significant deviations from the model. This implies that the frequencies of the nonmetric traits in the populations used in this analysis are not a linear function of genetic distance. This discourages the use of nonmetric traits in making quantitative conclusions about genetic relationships. It also suggests the need for investigation of the use of other skeletal characters for estimating genetic distance, as well as approaches for such investigations through the study of hybrid individuals.

Adult↗
PubMed2002

[Genetic susceptibility testing for hereditary breast and ovarian cancer--approach from a commercial clinical laboratory].

Genetic testing for hereditary cancers and other common diseases are still considered as the research testing, not for the clinical testing in Japan. One of the major reason of this situation is related to the guidelines regarding the human genetic testing issued successively in the spring of 2001, one by joint work of the eight learned societies and the other by the Japan clinical laboratories association. Both of these guidelines warn the condition of the clinical application of genetic testing after research stage must have the evidence data for clinical utility. We describe the situation of the genetic testing in the U.S. focusing the social background of increasing breast cancer cases and the contribution of Myriad Genetic Laboratories, Inc. for the genetic testing industry. We also describe the Japanese situation of the genetic testing and problems to be solved before spreading widely.

Breast Neoplasms↗
PubMed2004

Development of a polar morphology by identified embryonic motoneurons.

Motoneuron morphology arises through the coordinated growth of the motor axon and dendrites. In the Drosophila embryo the RP motoneurons have a contralaterally-extended motor axon, ipsilateral dendrites that extend a short distance in the ipsilateral connective, and a tuft of short dendrites in the contralateral connective. In the present study mechanical and genetic manipulations were utilized to test if (i) the ipsilateral dendrites can develop an axon morphology, (ii) the presence of the contralateral motor axon suppresses the development of an axon-like morphology by the ipsilateral dendrites and (iii) whether establishment of a contralateral motor axon can be genetically suppressed. It was found that an ipsilateral motor axon could develop-but only at the expense of the contralateral motor axon. Axotomy could overturn the normal polarity of the RP motoneurons in favor of the development of an ipsilateral motor axon, and this reversed morphology was also observed when the motor axon could not extend across the midline in the commissureless mutant. These findings show that the RP motoneurons have the plasticity for an alternative polarity, but that the extension of an ipsilateral axon is normally suppressed by the presence of the contralateral axon. The RP motoneurons now represent a genetically amenable in vivo system for analyzing the basis of polarity formation in neurons.

Animals↗