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This study aims to explore the genetic knowledge of different health professional, and non-professional populations after ten years of implementation of genetic health program in Taiwan. A self-administered questionnaire was developed to test the genetic knowledge of 885 respondent who included 361 community health nurses, 74 maternal-child nurses, 364 college students, and 86 members of the general public. The questionnaire included 33 questions which were divided into 4 categories (1) basic genetic knowledge, (2) Mendel's Law and probability, (3) prenatal diagnosis, (4) identification of common genetic disorders. The responses were scored and analyzed statistically with ANOVA tests. Community health nurses had the highest scores of genetic knowledge. However, they need more practice in the application of Mendel's Law and probability. Maternal-child nurses should be involved in genetic education programs and improve their ability to identify common genetic disorders and thus increase their ability to identify cases and provide better information to patients and families. Compared to other groups, college students had lower scores in prenatal diagnosis and identification of common genetic disorders. Therefore, college curricula in genetics need to emphasize more on these subjects. From the study, it was concluded that community health nurses are effective and competent to continue the genetic education as supported by the government in the past ten years. Maternal-child nurses are inevitably involved in genetic service, and they should be provided with suitable continuing education programs. The general public should strengthen their knowledge of prenatal diagnosis and common genetic disorders. Prenatal diagnosis should be added in the school curriculum of college students to expand their knowledge. New genetic technology, such as DNA analysis, should be added in the content of genetic education programs.
BACKGROUND: In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a pregnancy of women with a genetic risk factor already present before pregnancy has many disadvantages. Nevertheless, some 10-20% of the counsellees who attend a Department of Clinical Genetics for the first time are pregnant. OBJECTIVES: We aimed to explore the role of the GP in referring women for genetic counselling during, instead of before a pregnancy. METHOD: The GPs of 100 pregnant women who received genetic counselling were invited to participate in the study and asked to complete a questionnaire. The topics were: initiation and discussion of aspects of referral to the Department of Clinical Genetics; reasons for the referral during, instead of before a pregnancy; knowledge of genetic counselling; attitudes towards genetic counselling before a pregnancy; and attitudes towards abortion. RESULTS: To our surprise, 29% of the GPs indicated that they had not been involved in the referral to the Department of Clinical Genetics at all. Furthermore, the referral was initiated by the patient herself in most cases (40%) and by the GPs in 31% of the cases. Of the GPs who were involved in the referral, most of them (79%) talked to their patients to different extents about what to expect from their visit to the Department of Clinical Genetics; however, potential choices after an adverse outcome at prenatal diagnosis were discussed less often (60%). The main reason for referring the patient during, instead of before her pregnancy was because the GP was unaware of a potential risk factor before pregnancy (71%) and, consequently, never had a chance to talk about a referral before (71%). Other reasons for referral during pregnancy mentioned by the GPs were reassuring the patient about the health of her unborn child (32%) and the wish of the patient to be referred during pregnancy (31%). GPs considered their knowledge of clinical genetics to be limited (mean score 5, on a scale from 0 to 10). The majority of the GPs were in favour of genetic counselling taking place before, instead of during pregnancy, and they had no great objections to abortion. CONCLUSIONS: During pregnancy, the gatekeeper function of the GP in the referral for genetic counselling is undermined. Limited alertness and awareness among GPs about genetic risk factors in their patients played a major role in this undermined function and in the less appropriate timing of referral. Neither insufficient knowledge nor barriers to acceptance explained this lack of alertness and awareness. We advocate the implementation of routine family history taking in general practice.
Genetic evaluations for a multiple-breed population of beef cattle were used to estimate genetic trends for five breeds, and genetic differences and overlap among 14 breeds. Genetic evaluations studied were for direct contributions to birth weight, gain from birth to 200 and 365 d, and maternal contribution to gain from birth to 200 d. Almost all genetic trends were positive, but the magnitude of the trends varied among breeds. Trends were nonlinear between 1985 and 1995 for most breed and trait combinations. The rates of increase in genetic trends were generally higher for the lighter weight breeds, and lighter weight breeds had faster growth rate genetic trends at 1995 than the heavier breeds. Genetic trend estimates for yearling gain at 1995 were 2.46, 2.23, 1.73, 1.70, and 1.46 kg/yr for Angus, Hereford, Limousin, Charolais, and Simmental, respectively. Corresponding birth weight genetic trends were .130, .226, .049, .130, and .048 kg/yr. Mean genetic differences between breeds have been decreasing in magnitude due to these differences in genetic trends between heavier and lighter breeds. Genetic variation for the traits studied seemed to be greater within than between breeds for calves born and cows calving between 1993 and 1995. Genetic trends at 1995 suggest that ratios of within:between breed variation will increase and that across-breed genetic improvement initiatives for growth traits will become more important in the future.
Cancer genetic services, typically provided by clinicians with expertise in both oncology and genetics, include cancer risk assessment and education, facilitation of genetic testing, pre-and post-test counseling, provision of personally tailored cancer risk management options and recommendations, and psychosocial counseling and support services. All oncology providers should obtain basic information on the family cancer history of their patients to determine the likelihood of hereditary cancer risk as well as possible indications for providing brief or comprehensive cancer genetic counseling. Those who choose to provide these services themselves must be familiar with the complex issues of genetic counseling and testing, and be aware of the time and expertise required to adequately deliver these services. Genetic nurses and genetic counselors with master's degrees function as valuable members of a comprehensive cancer genetic service; they are trained to independently collect and confirm medical and family history information, perform risk assessments, offer patient education regarding cancer and genetics, and provide supportive counseling services for patients and families. It is hoped that specific risk interventions will significantly reduce morbidity and mortality from familial forms of cancer. This review outlines the process of cancer genetic counseling and defines the roles of the cancer genetic counselor and the function of the cancer genetics specialty clinic. The possible medical and legal implications for failing to obtain adequate family history information are reviewed, and the issues of genetic discrimination are discussed.
The purpose of this study was to evaluate Denizli midwives' self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and genetic counseling (response rate = 70.1%). The highest response rate of midwives describing themselves as "knowledgeable" about basic genetic information was for mitosis and meiosis with 4.8%, about genetic disorders was for phenylketonuria with 61.1%, and about genetic counseling was for recommending ultrasonography during pregnancy with 98.1%. The source for basic genetics information for 56.4% of participants was in their school level classes. None of the midwives felt that they had sufficient knowledge about genetic counseling or screening and 76.4% would like to attend an educational course. Even though the midwives have recognized their knowledge deficit they occasionally give genetic counseling. As a result of this study a genetics course is planned for midwives so they can actively participate in the prevention and early diagnosis of genetic diseases.
An increase in genetic variation in body size has often been observed under stress; an increase in dominance variance and interaction variance as well as in additive genetic variance has been reported. The increase in genetic variation must be caused by physiological mechanisms that are specific to adverse environments. A model is proposed to explain the occurrence of an increase in genetic variation in body size in Drosophila at extreme temperatures. The model has parameters specific to the low- and high-temperature regions of the viable range. Additive genetic variation in the boundary temperatures leads to a marked increase in additive genetic variation in development rate and body size at extreme temperatures. Additive genetic variation in the temperature sensitivity in the low- and high-temperature regions adds non-additive genetic variation. Development rate shows patterns in additive genetic variation that differ from the patterns of genetic variation in body size; therefore, the genetic correlation between development rate and body size changes sign repeatedly as a function of temperature. The existence of dominance in the genetic variation in the boundary temperatures or in the low- and high-temperature sensitivities leads to a higher total genetic variance due to higher dominance and interaction variance, for both development rate and body size.
PURPOSE: To assess primary care physicians' and psychiatrists' knowledge of genetics and genetic tests and the factors associated with differences in these physicians' knowledge. METHOD: Questionnaires were mailed in 1991 to 1,795 primary care physicians (family physicians, internists, pediatricians, obstetrician-gynecologists) and psychiatrists who had graduated from medical school between 1950 and 1985 (67.6% of the sample had graduated after 1970) and who were members of professional societies. The questions elicited demographic and practice characteristics as well as knowledge of genetics concepts and facts and awareness of the availability of genetic tests. To validate the questionnaire, 360 medical geneticists and genetic counselors received questionnaires. Statistical analysis involved arc-sine function transformation, t-tests, analyses of variance, F-tests, Tukey's HSD, and stepwise multiple regression. RESULTS: A total of 1,140 (64.8%) of the non-geneticist physicians responded. They correctly answered an average of 73.9%, SD, 13.9%, of the knowledge items, compared with 94.6%, SD, 4.2%, for the genetics professionals (p < .001). The most significant predictors of knowledge were recency of graduation from medical school and practicing in primary care specialties in which exposure to genetics problems is likely. Other significant predictors (from most to least important) were graduation from a U.S. medical school, willingness to adopt a new predictive test before it becomes standard practice, not using pharmaceutical companies as a source of information about new medical practices, and taking a required genetics course in medical school. CONCLUSIONS: The results suggest that knowledge of genetics and genetic tests is increasing among physicians, particularly among more recent graduates and physicians who are exposed to genetics problems in their practices, but deficiencies remain. Although a medical school course in genetics may improve knowledge, it is not sufficient. Greater emphasis is needed at all levels of medical education to reduce the chance of physician error as more genetic tests become available.
All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.
OBJECTIVES: Genetic epidemiology investigates the role of genetic factors and their interaction with environmental factors (in a broad meaning) for the occurrence of diseases in human populations. Its aim is to undestand the influence of genetics on the development of diseases, their course and the clinical implications, with the final goal to improve prevention, diagnostics and therapy. METHODS: Originally genetic epidemiology was understood as a specialized discipline with the main focus on family-based studies. The extraordinary development of genetics in the last decades--with respect of the understanding of the meaning of genes for human health, as well as by the availability of cost-effective high throughput methods in the lab, has opened enormous opportunities to study genetic factors. Now, genetic epidemiology and genetic statistics have a much broader application. In addition, access to large samples of patients or from the population is needed. This can be realized via biobanks. RESULTS: Large biobanks with 500,000 or more patients or participants from the general population are being established or planned in the UK, Japan or the US. However, in Germany only two smaller activities are ongoing, KORA-gen in the south and POPGEN in the north. Possibilities to reach larger numbers, based on existing cohorts or disease networks are discussed. Ethical boundary conditions have to be taken into account, which seem to improve due to the Opinion of the German National Ethics Council on Biobanks for Research. Furthermore, the activities of the German centers for Genetic Epidemiological Methods (GEMs) as research and support units for genetic statistics and epidemiological methodology are described. CONCLUSIONS: Genetic epidemiology is based strongly on interdisciplinary collaboration and includes basics of genetics, elements of molecular biology to identify genes, population genetics, clinical medicine, and methodological disciplines as epidemiology, biostatistics and bioinformatics. In Germany the situation for this type of patient-based research has recently improved due to the National Genome Research Network (NGFN).
OBJECTIVE: To compare the genetic risk assessment of the referring obstetrician to the risk assessment of the genetic counselor. STUDY DESIGN: All patients evaluated between January 1, 1999, and March 31, 1999, and who required genetic counseling were retrospectively reviewed. The genetic risk assessment of the referring obstetrician was compared to the genetic risk assessment following counseling by a genetic counselor who used a questionnaire and a three-generation pedigree. The number of patients with additional genetic risk factors identified by the genetic counselor were recorded and compared by using the McNemar chi-square test. Group demographics and characteristics were evaluated. RESULTS: Among the 145 patients evaluated, 38% (n = 55) had additional genetic risk factors detected by the genetic counselor (P =.01). The maternal demographics and characteristics did not differ between the two groups. CONCLUSION: The practice of referring high-risk obstetric patients for genetic counseling improves the detection of identifiable genetic risk factors.
Amniocentesis, and other prenatal genetic tests, have become a well-established feature of modern prenatal care. But these tests place a considerable decision-making burden on the expectant mothers to whom they are offered: the genetic issues involved are complex and the appropriate course of action sometimes ambiguous. Genetic counseling aims to help pregnant clients make an informed decision about prenatal genetic tests. But the clientele of prenatal genetic counseling has changed significantly in the years since the practice was established. Clients were once a self-selected group of women well-informed about the genetic services being offered. In contrast, clients now include an increasing number of women, particularly ethnic minority women, who had no prior knowledge of genetic testing, but were found to be at risk of birth defects after routine screening. Little is known about how well genetic counseling serves the needs of this new clientele. This paper investigates the possibility that miscommunication between genetic counselors and their Mexican-origin clients contributed to the higher rates of amniocentesis refusal. We interviewed 156 pregnant Mexican-origin women who screened positive on a blood test routinely offered in California to detect birth defects. We also observed the genetics consultations of a sub-sample of the women. We identified five common sources of miscommunication: (1) Medical jargon; (2) The non-directive nature of counseling; (3) The inhibitions of counselors stemming from misplaced cultural sensitivity; (4) Problems of translation; (5) Problems of trust. We found that many Mexican-origin women are skeptical of genetic testing and do not easily surrender their own lay theories about the causes of their condition. In order to dislodge the misunderstandings of their clients, counselors must give clients the opportunity to air their own views, however contrary to those of genetics professionals these may be.
One of the ironies in the current health care coverage crisis is that developing more accurate biomedical information could make things worse rather than better. In the current American health care system, information about an individual's risk of disease plays a crucial role for many people in determining access to health care coverage. This link between the likelihood of needing health care and the ability to obtain coverage for that care has the unfortunate result that those most in need may have the greatest difficulty finding affordable health care coverage. New advances in human genetics are transforming medicine by making available increasing amounts of such information about risk. Biomedical science and the delivery of health care are being reshaped by advances in our understanding of human genetics. New insights into health and disease, new diagnostic and prognostic tests and the possibility of new therapies reflect significant investments by the public and by private business and are no longer limited to the uncommon disorders traditionally labeled as "genetic diseases." Among the first products of genetic research is information useful in predicting the likelihood that an individual will develop particular diseases, opening the door both to preventive strategies that we would welcome, such as changes in diet and exercise patterns, and to the unwelcome possibility of genetic discrimination. Injecting information about genetic risks into the current health care system could result in ever more refined risk rating by insurers and ever greater difficulty in finding affordable health care coverage for large numbers of people. At a minimum, people could be discouraged from obtaining genetic information that might be useful in disease prevention and early treatment or for case planning and management because that same information could jeopardize their access to health care coverage in general, or to treatment for a condition excluded from coverage because it was "pre-existing." Under other circumstances people might be compelled to provide genetic information as a condition of obtaining affordable health care coverage. Genetic risk information carries an additional, wider burden because information about an individual's genetic health risks may also be information about the risks of children, parents, brothers, sisters, and other relatives. One suggested approach--providing special protection for genetic information--is unlikely to succeed. This special protection has been suggested because of the relevance of genetic information to family members and its implications for reproductive choices, potential discrimination and stigmatization.(ABSTRACT TRUNCATED AT 400 WORDS)
Should a growing market for genetic self-tests be welcomed or feared? From the point of view of personal autonomy the increasing availability of predictive health information seems promising. Yet it is frequently pointed out that genetic information about future health may cause anxiety, distress and even loss of "life-hopes." In this article the argument that genetic self-tests undermine personal autonomy is assessed and criticized. I contend that opportunities for autonomous choice are not reduced by genetic information but by misperceptions and misunderstandings of the results of genetic tests. Since the interpretation of genetic information is sometimes distorted by the information provided about the genetic products, more attention should be given to deceitful marketing that overblows the utility of genetic products. Yet personal autonomy is reduced neither by genetic tests nor by genetic information and there is consequently no compelling case for the conclusion that genetic self-tests should be prohibited.