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PubMed2004

Public experiences, knowledge and expectations about medical genetics and the use of genetic information.

OBJECTIVE: The objectives of this study were (1) to explore public experiences, genetic knowledge, expectations of future medical genetic developments, and the attitudes towards the use of genetic information, and (2) to determine whether there are subject characteristics associated with these variables. METHODS: Participants (n = 1,308, age > or = 25 years) of a Dutch consumer panel were sent a questionnaire, specifically designed for this study. RESULTS: Response was 63% (817/1,308). A minority of respondents reported to know someone with a hereditary disease (34%) or to have used a genetic test (8%). Overall, 57% perceived a lack of genetic knowledge. In multivariate analyses, high self-rated knowledge, younger age, having heard of genetic testing, high educational level, female gender, having children living at home, being a health professional, and familiarity with genetic testing were positively associated with genetic knowledge. Future expectations of the consequences of developments in medical genetics varied between the subjects. The great majority expected great benefits for medical practice such as an increasing use of genetic aspects of disease for diagnosis or prevention. One fifth, mainly older people, anticipated a negative impact of genetic developments on society. The results also show that most people are reserved to share their genetic information with others, especially with regard to the wider public domain (e.g. industry and insurers) and employers. Remarkably, respondents were more willing to share their genetic information with scientific researchers (68%) than with their relatives (54%). CONCLUSION: This study suggests that although one fifth anticipates negative consequences of genetic developments, the great majority has high expectations about the increasing use of genetics in prevention, diagnosis and treatment of diseases. In developing educational programmes about genetic innovations in medicine, policymakers will have to take into account pre-existing lay knowledge, views and expectations of different groups of citizens towards these developments.

Adult↗
PubMed2003

The new genetics and its consequences for family, kinship, medicine and medical genetics.

In the past several decades there has been an explosion in our understanding of genetics. The new genetics is an integral part of contemporary biomedicine and promises great advances in alleviating disease, prolonging human life and leading us unto the medicine of the future. The aim of this paper is to explore the ways in which people make sense of the uncertainties that are associated with the new genetics, which by definition involve family and kinship relations. We explore the degree to which medical genetics places the patient in a double bind between the qualitative certainty and quantitative uncertainty of genetic inheritance that reinforce notions both of fear, and control of a person's future health. Second, we propose that the new genetics has medicalized family and kinship creating profound ethical and practical dilemmas for both the individual and for medicine as a whole.

Adult↗
PubMed1999

The concept of abnormality in medical genetics.

This paper explores usage of the concept of abnormality in medical genetics and proposes directives for more careful usage of this concept. The conceptual difficulties are first explored, then a model is developed to assess actual usage, followed by analysis of a sample of genetic textbooks and genetics literature. It appears that fact and valuation are often intermingled, that reference standards used to define 'genetic abnormalities' are often not clear and that the concept of abnormality is often used independent of the degree of certainty with which the altered genetype develops into a (seriously) harmful phenotype. On the basis of these findings it is argued that more restraint and more careful use of the concept of genetic abnormality of medical genetics is appropriate as well as more agreement on the use of reference standards.

Congenital Abnormalities↗
PubMedDate not supplied

[Medical genetics and migration].

Any migration results in the transfer of normal and pathological genes from one population to another. The frequency of pathological genes may vary according to the population, sickle cell anaemia, for instance, being frequent in Africa and cystic fibrosis in Europe. It follows that the hereditary pathology of migrants is not the same as that of the host population, at least during the immediate post-migration years; subsequently, all depends on the degree of cross-breeding. In epidemiological genetics the study of the frequency of some diseases in the original population, among migrants and in the host population enables the effects of genes and environment on the aetiology of these diseases to be investigated.

Genetic Diseases, Inborn↗
PubMed2005

Population history and its impact on medical genetics in Quebec.

Knowledge of the genetic demography of Quebec is useful for gene mapping, diagnosis, treatment, community genetics and public health. The French-Canadian population of Quebec, currently about 6 million people, descends from about 8500 French settlers who arrived in Nouvelle-France between 1608 and 1759. The migrations of those settlers and their descendants led to a series of regional founder effects, reflected in the geographical distribution of genetic diseases in Quebec. This review describes elements of population history and clinical genetics pertinent to the treatment of French Canadians and other population groups from Quebec and summarizes the cardinal features of over 30 conditions reported in French Canadians. Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111). Other conditions are particularly frequent or have special genetic characteristics in French Canadians, including oculopharyngeal muscular dystrophy, hepatorenal tyrosinaemia, cystic fibrosis, Leber hereditary optic neuropathy and familial hypercholesterolaemia. Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901).

Ethnicity↗
PubMed1995

Medical genetics in Singapore.

This paper is a brief review of the scope of research and clinical work in human genetics in Singapore. Clinical genetics and karyotyping were established in the early sixties. G6PD deficiency was discovered then as the commonest cause of kernicterus in the newborn. Screening of all newborns was instituted. The measures taken have been very successful and kernicterus is virtually unknown since the early 1970s. Numerous G6PD variants have been discovered and characterized. During the 1980s the emphasis shifted to molecular genetics. Work on the molecular genetics of alpha- and beta-thalassemias, Duchenne muscular dystrophy, hemophilia and retinoblastoma have been established, and good progress on diseases such as neurofibromatosis, leukemias, and lymphoid malignancies. The diagnosis of tuberculosis by DNA amplification (PCR) has been successfully implemented. Numerous papers have been published on the molecular genetics of coronary artery disease, as well as in population genetics.

Adult↗
PubMed1995

Medical genetics in Thailand.

The development of medical genetics as a discipline in Thailand is relatively recent. It originated through interest in hematological disorders which occur in high frequency, namely the thalassemias and hemoglobinopathies, together with glucose-6-phosphate dehydrogenase deficiency. Although a complete registry of genetic diseases in Thailand has not yet been established, considerable data has accumulated through special interest groups.

Congenital Abnormalities↗
PubMed1977

[New challenges in health education. Medical genetics].

The article examines the reasons for the accelerated development of medical genetics in the last 30 years. It dwells on why hereditary diseases have become so prominent in the vital statistics of many countries, and reviews the biological and social aspects of these diseases. It is further noted that, despite the new importance of these diseases, the medical schools in which medical genetics is taught are relatively few, and physicians are turned out without even a rudimentary grounding with which to face problems in this field. The author concludes that there is urgent need to plan and develop an extensive program of education in medical genetics on both the under and postgraduate levels, and in the community itself.

Developing Countries↗
PubMed2004

Medical genetics in Paraguay.

Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.

Congenital Abnormalities↗
PubMed2001

Medical genetics and patient use of the Internet.

Clinical experience suggests that the Internet is increasingly becoming a resource for patients seen in medical genetics. A prospective analysis was performed exploring patient use of the Internet prior to attending a medical genetics appointment. We administered 200 questionnaires assessing: 1) the frequency of patient use of the Internet for genetic information, 2) factors associated with Internet use, 3) patient assessment of the value of the information, and 4) patient views of the responsibility of medical genetics professionals to be familiar with Internet information. Results show that 77% (153/200) of patients have access to the Internet of which 29% (44/153) report searching the Internet for genetic information. A correlation was found between patient use of the Internet and reason for referral (p<0.001), presence of a specific diagnosis (p<0.001), and frequency of Internet use (p<0.05). Overall, 80% (33/41) of patients found Internet information useful. Seventy-four percent (115/155) believed that medical genetics professionals have a responsibility to review relevant Internet sites for accuracy and 80% (123/153) felt that professionals should provide their patients with appropriate and useful Internet sites. These results suggest that the role of medical genetics professionals is changing as a result of the development of the Internet.

Female↗