Current concepts in genetics: principles of medical genetics (second of two parts).
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Congenital Abnormalities↗
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The importance of being marginal: Norma Ford Walker and a Canadian school of medical genetics.
This study reviews the development of a medical genetics research tradition in Toronto, Canada. This research tradition, what I call the "Ford Walker school," was forged in the 1930s in an iconoclastic mold. It was female-dominated in an era when leading-edge science was definitely not "women's work." It emerged in a leading research university, but in a country that lagged in the sciences. These social relations of gender and nation symbolized and sustained a marginality that was reinforced by the substantive concerns of members of this research school. They adopted a service orientation toward medicine, were sympathetic to heterodox approaches to genetic and medical science, and were principally reliant on a marginal research tool-dermatoglyphics. Despite this marginality, Norma Ford Walker was among the founding members of the institutions of human and medical genetics in North America in the postwar period. She forged a research tradition that served as the basis for further developments in medical genetics in Toronto and educated a generation of students, many of them women, who went on to populate and then institutionalize the growing science and practice of medical genetics in Canada. The heterodox approach of the early Ford Walker school was displaced as the field grew in the postwar period. Yet many members of the research school retained dermatoglyphic technique and used it to contribute to progress in medical cytogenetics. In this article, I explore why the history of this marginal research school is important.
Canada↗
Lack of impact of undergraduate genetic courses on the teaching of medical genetics.
The impact of undergraduate genetic courses on the academic performance of first-year medical students in the medical genetics course at the University of Pittsburgh School of Medicine was evaluated over a period of 9 years. Comparisons were made between medical students who had taken a formal undergraduate course in genetics and those who had not. Little if any differences were found in the academic performance in the medical genetics course between these two groups of students. Perhaps the design of undergraduate courses in genetics should be re-evaluated to give more depth to the medical student's preparation for appreciating the significance of genetics in normal and abnormal human variation.
Education, Medical, Undergraduate↗
Medical genetics in primary health care.
Medical genetics has been at the forefront of developments in medicine for the last 50 years. This progress has mainly benefited industrialized countries. Due to continuing improvements in the socio-economic and health indices in developing nations more than half of them have now reached a stage where it has become relevant for them to initiate and develop medical genetic services. The WHO foresaw this eventuality in 1985 and further recognised the need to develop community based medical genetic services that are relevant to and can be incorporated into primary health care. The need for primary health care based medical genetic services has subsequently also been accepted in industrialized nations. This paper summarises those primary health care based interventions that can be undertaken to ensure the control of genetic disorders and birth defects.
Community Health Services↗
[Medical Genetic Center of Russian Medical Science Academy is 10 years old].
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Academies and Institutes↗
Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa).
PURPOSE: Little is known about physician's knowledge of, and attitudes toward genetics in sub-Saharan Africa. METHODS: Survey of 101 pre-clinical, 95 clinical medical students, and 110 physicians, in Cameroon. RESULTS: The awareness of DNA diagnosis was poor: 0, 2.2, and 1.2%, respectively, for sickle cell anemia. The majority of the respondents considered genetic counseling as indispensable (97.6, 98.9 and 100%); and prenatal diagnosis as acceptable. The acceptance of medical abortion increased with the level of medical education (62.6, 74.7 and 90.7%). Sickle cell anemia was considered as a "serious disease" by a greater majority of respondents than Down syndrome (P < 0.001). But, in all three groups, the acceptance of termination of affected pregnancy "if the respondent's own child was affected" was lower for sickle cell anemia than Down syndrome (22.4 versus 40.2%, 10.8 versus 29.3% and 36.1 versus 70.4%). CONCLUSIONS: The data suggest a poor knowledge of genetic tests among medical students and physicians. This cohort appears to accept the principles of medical genetics. Our data emphasized a need to introduce genetics and to develop research on its ethical and social implications in Cameroon.
Abortion, Therapeutic↗
Genetic engineering, medicine and medical genetics.
The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.
Genetic Engineering↗
Impact of medical genetics on environmental medicine.
Medical genetics as a discipline has contributed basic knowledge of great applicability in environmental medicine, e.g. 1) the demonstration that environmental agents may cause chromosomal damage, 2) that chromosome aberrations are correlated with increased risks for cancer and spontaneous abortion, and 3) that the susceptibility to cyto- and genotoxic damage may be influenced by genetic factors. This paper discusses examples of applications of genetic knowledge in environmental medicine and areas for future research.
Chromosome Aberrations↗
Advances in medical genetics.
Although advances in medical genetics are designed ultimately to help human beings receive better health care, they pose many problems for society. Some of these concerns are real, but others result from misunderstanding and/or misrepresentation of the true implication of certain developments in genetics. It is obvious that the geneticist must play a dual role in society as scientist and as advocate. Although such a duality or role is not easy, it is not impossible. However, it does mean that the training of the medical geneticist must include more than exposure to the scientific approach.
Biomedical Research↗
Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation.
The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.
Community Networks↗
Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics.
PURPOSE: To describe the current medical genetic knowledge and perceptions of graduate advanced practice nursing (advanced practice nurse [APN]/nurse practitioner and nurse anesthetist) students using survey data for future integration of genetic topics, principles, and healthcare issues into curriculum. DATA SOURCES: Survey data of APNs' perceived knowledge of genetics and a review of the literature from past research studies of students and current articles from professional journals and organizations. Web sites were those of the National Coalition of Health Professions for Education in Genetics and National Institutes of Health, Human Genome Research Institute; professional organizations; and the authors' professional, clinical, and educational experiences. CONCLUSIONS: Most APN students perceived they had minimum knowledge and prior training regarding medical genetics. There is a need to integrate genetic concepts, principles, and medical conditions into advanced practice nursing curriculum and to provide clinical experiences in genetic conditions across the life span and throughout the health and illness spectrum. APN students have positive attitudes toward integrating genetics into graduate curricula. Potential methods for program integration include readings, small group discussion, standardized patients, and role-play as measures to increase information. IMPLICATIONS FOR PRACTICE: The National Coalition for Health Profession Education in Genetics, the American Nursing Association, and the American College of Nursing Education have recommended integration of genetics knowledge and skills into routine health care to provide effective interventions for individuals and families. However, previous research and data from this study have revealed that many nurses have minimal training in genetics. Advanced practice nurses must be knowledgeable on genetic principles, topics, and the ethical, legal, and social implications related to medical genetics to increase the ability to diagnose, prevent, and treat diseases and to provide effective care for individuals and families.
Adult↗
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
An educational slide set entitled "Early Childhood Hearing Loss: Clinical and Molecular Genetics" is offered by the American College of Medical Genetics (ACMG). The slide set is produced in Microsoft PowerPoint 2002. It is extensively illustrated and supported with teaching tools, explanations of each slide and figure, links to Internet resources, and a bibliography. The slide set is expected to be used as a resource for self-directed learning and in support of medical genetics teaching activities. The slide set is available through the ACMG (http://www.acmg.net) for $20, plus applicable tax and shipping. It is the first in a series of educational slide sets to be developed by the ACMG.
Computer-Assisted Instruction↗
The 2023 medical genetics workforce in the United States.
PURPOSE: To characterize the 2023 medical genetics and genomics workforce in the United States-comprising clinical geneticists, genetic counselors, genetic nurses, genetic physician assistants, laboratory geneticists, and metabolic dietitians-to inform genetics workforce efforts. METHODS: National genetics membership or board-certification organizations distributed an electronic survey to medical genetics professionals in early 2023. Questions were derived from prior workforce surveys and by a workgroup led by the National Coordinating Center for the Regional Genetics Networks. RESULTS: Of the 3070 medical genetics professionals who responded, 66.0% were genetic counselors, 15.4% were clinical geneticists, 12.2% were laboratory geneticists, 4.7% were metabolic dietitians, and 1.7% were genetic nurses or physician assistants. The respondents identified as White (76.1%) and women (84.7%); there were statistically significant differences between disciplines. Forty percent worked in academic centers; 55.3% worked 41+ hours per week. Nearly 11% of respondents provided services in a language other than English. Despite 34.7% of respondents experiencing some burnout, most had no plans to leave the field (94.4%) within the next year. CONCLUSION: The medical genetics community needs to advance workforce initiatives to support current personnel and attract new and diverse individuals to the field to serve patients and their families.
Humans↗
A biography and bibliography: the recent trends in bioethics and medical genetics in Japan (Part I).
1. Introduction. 2. History of Bioethics in Japan. 3. First international bioethics seminar in Fukui on human dignity and medicine (1987). 4. Second international bioethics seminar in Fukui--international association of human biologists--japan society of human genetics joint symposium on medical genetics and society (1990). 5. Third international bioethics seminar in Fukui on human genome research and society (1992). 6. Fourth international bioethics seminar in Fukui on intractable neurological disorders, human genome research and society (1993). 7. Fifth international bioethics seminar in Fukui on the MURS japan/IBC UNESCO joint seminar on the protection of the human genome and scientific responsibility (1995). 8. Sixth international bioethics seminar in Fukui--UNESCO Asian bioethics conference- and who assisted satellite symposium on medical genetics services and bioethics, in Kobe and Fukui (1997). 9. Coming seventh international bioethics seminar in Fukui on pharmaco-genomics and DNA polymorphism (2000). 10. Conclusion.
Bioethics↗
[History of medical genetics in the Czech Republic].
History of the medical genetics in Bohemia since the period of Mendel is described. Effects of the abuse of genetics in Germany before and during the Second Word War as well as consequences of the liquidation of genetics in the postwar Russia on the development of genetics and the activity of geneticist in the Czech countries are documented. The paper gives information on the progress of modern Czech medical genetics, the role of the Society of Medical Genetics of the Czech Medical Association and the credit the eminent geneticist achieved in the organization and advancement of this specialization. The network of genetic laboratories and the list of available services in the Czech Republic are described in the context of model health care in contemporary Europe.
Czech Republic↗
Some aspects of medical genetics in island populations.
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Genetics, Medical↗
[A census of medical genetics services in Argentina].
OBJECTIVE: To describe the medical genetics services in Argentina, in order to help organize a network to coordinate those services, decrease inequity in access to them, and promote the comprehensive development of medical genetics in the country. METHODS: In April-August 2004 a survey was conducted of centers providing medical genetics services in Argentina, looking at their human resources, diagnostic procedures, the services that patients use, and funding. The survey covered service centers that conduct genetic assessment, cytogenetic diagnostic testing, molecular biology testing, and biochemical testing to detect birth defects or genetic disorders. Centers that were devoted exclusively to research were not surveyed. RESULTS: A total of 134 centers fulfilled the selection criteria for the survey; 84 of them were private services, and the other 50 were publicly managed services, at universities and hospitals. The 50 public facilities had a total of 67 physicians who had studied clinical genetics, plus 133 non-medical laboratory professionals. A majority of the 50 centers performed clinical and cytogenetic diagnoses, with a smaller number performing molecular, biochemical, and prenatal diagnoses. More than 70% of the centers and human resources were located in an area that includes the city of Buenos Aires, the province of Buenos Aires, and the nearby north-central provinces of Córdoba and Santa Fe. The 50 public centers were found mainly in large cities; 10 of the country's 23 provinces had no public services. CONCLUSIONS: There is a great geographic disparity in the availability of resources as well as wide variability in the diagnostic procedures that are provided in the different service centers. The unequal distribution of the facilities is an organizational problem that will require the application of policies to guarantee minimum services for people in all regions of the country, as well as access to more complex diagnostic procedures.
Adult↗
In the light of preimplantation genetic diagnosis: some ethical issues in medical genetics revisited.
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Ethics, Medical↗