Community genetics最新文献

Objective: This paper explores the treatment of medical genetics in undergraduate medical education, specialists' training and continuing medical education (CME) for general practitioners, specialists, nurses and midwives.

Methods: We conducted a qualitative survey of websites, published or unpublished documents, telephone interviews and mailed questionnaires.

Results: Genetics is a medical specialty in France, and the small number of university professors in genetics are in charge of the genetic component of medical training of all future practitioners. The study was complicated by the ongoing waves of reforms in the French health and educational systems and by the autonomy of the faculties. Specialist training and CME in genetics is heterogeneous and not organised as a priority.

Conclusions: Specialist education and CME in genetics of non-geneticist health care providers needs to be adapted to the fast ongoing developments of this field of knowledge.

The Information Service on Inborn Errors of Metabolism (SIEM), a pioneer toll-free service in both Brazil and South America, is based in Porto Alegre, Southern Brazil. SIEM has been operating since October 2001 providing support to health care professionals involved in the diagnosis and management of suspected metabolic diseases. We analyzed the demographic and clinical characteristics of the 376 consults received and followed in the first two and half years of SIEM. Our results show that the suspicion of a metabolic disease was most often associated with neurological symptoms. Among the consults, 24.4% were eventually confirmed as inborn errors of metabolism (IEM), with organic acidurias and amino acid disorders being the two most frequent diagnostic groups. Our conclusion shows this kind of service to provide helpful support to the diagnosis and acute management of IEM, especially to health professionals working in developing countries who are often far from reference centers.

For 14 years, Iranian scientists have worked to develop a national thalassemia prevention program. Although historically abortion was considered unacceptable in Iran, intensive consultations led to the clerical approval of induced abortion in cases with beta-thalassemia major in 1997, and a nationwide prevention program with screening, counseling and prenatal diagnosis (PND) networks has been developed. This paper reports the experience from one of the two national PND reference laboratories. As one of the oldest reference laboratories, we performed a total of 906 PND in 360 couples at risk for thalassemia from 1990 to 2003. Direct and indirect mutation detection methods were applied for all cases. In total, 22 mutations were tested routinely, and an additional 30 rare mutations were identified. 208 fetuses were found to be normal, 215 fetuses had beta-thalassemia major, and 435 fetuses were carriers of the trait. In 40 cases, we only defined one allele. In 8 cases, we were unable to provide any diagnosis, corresponding to 0.9%. Our data support the functionality of the Iranian beta-thalassemia prevention program. The success of this system in Iran, a multiethnic and Islamic-based country, would mean that it might be applied as an adaptive system for neighboring and other Islamic countries.

Objectives: This study aimed to characterize the prevalence of congenital heart disease (CHD) in children born alive in São Miguel island from January 1992 to December 2001.

Methods: Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.

Results: During this 10-year period, the average prevalence of CHD is 9.16 per 1,000 live births (range 4.77-12.75). The most frequent cardiac malformations found were: ventricular septal defect (38.1%), atrial septal defect (12.2%) and patent ductus arteriosus (11.6%). Until now, four familial clusters were identified, representing a total of 13 patients.

Conclusions: This first epidemiological study of CHD in the Azorean population reveals evidence for familial aggregation, which is of great interest for understanding the genes involved in these complex pathologies.

The presence of a geographical pattern in the distribution of the sickle cell gene (S gene) and its association with malaria is well documented. To study the distribution of the S gene among various ethnic and linguistic groups in the Sudan we analyzed a hospital-based sample of 189 sickle cell anemia (SCA) patients who reported to the Khartoum Teaching Hospital between June 1996 and March 2000 and 118 controls with other complaints, against their ethnic and linguistic affiliations and geographic origin. Electrophoresis for hemoglobin S and sickling tests were carried out on all patients and controls as a prerequisite for inclusion. The majority of patients (93.7%) belonged to families of single ethnic descent, indicating the high degree of within-group marriages and thus the higher risk of augmenting the gene. SCA was found to be predominant among the Afro-Asiatic-speaking groups (68.4%) including nomadic groups of Arab and non- Arab descent that migrated to the Sudan in various historical epochs. Those patients clustered in western Sudan (Kordofan and Darfur) from where 73% of all cases originate. The proportion of patients reporting from other geographic areas like the south (3.1%), which is primarily inhabited by Nilo-Saharan-speaking groups (19% of the whole sample) who populated the country in previous times, is disproportionate to their total population in the country (chi(2) = 71.6; p = 0.0001). Analysis of the haplotypes associated with the S gene indicated that the most abundant haplotypes are the Cameroon, Benin, Bantu and Senegal haplotypes, respectively. No relationship was seen between haplotypes and the various hematological parameters in the sub-sample analyzed for such association. These results provide an insight into the distribution of the sickle cell gene in the Sudan, and highlight the strong link of the middle Nile Valley with West Africa through the open plateau of the Sahel and the nomadic cattle herders and also probably the relatively young age of the S gene.

Objectives: It was the aim of this study to assess educational needs and priorities in genetics amongst non-genetic health professionals.

Methods: The methods used included website reviews and direct contact with individuals and organisations involved in health professional education.

Results and conclusions: Health professional education and training differed in structure with wide variation in the content and duration of genetics education provided. Evidence from the UK, France and Germany indicates that genetics professionals are influencing the genetics content of medical curricula. In post-graduate training, some specialist regulators have adopted specific genetics education requirements, but many programmes lack any explicit genetics. We show that within each country, a sometimes confusing plethora of organisations has responsibility for setting, assessing and delivering medical and midwifery education.

The Quebec Network of Genetic Medicine (QNGM), implemented in 1971, has been an integrated program of community genetics serving the population (approximately 7.5 million) of Quebec province in Canada. QNGM reported to the Minister of Social Affairs and operated under an umbrella of universal health insurance in the province. The Network's programs have been run by members of the four university medical schools of the province under the direction of a central committee. A global annual budget was awarded to QNGM from its inception. Among its many programs, QNGM supported: (1) two newborn screening programs (using blood and urine samples) for early diagnosis, treatment and research in phenylketonuria, hereditary tyrosinemia, congenital hypothyroidism, and in a large number of other hereditary metabolic diseases; (2) follow-up of confirmatory diagnostic tests at regional centers, followed by supervision of ambulatory treatment modalities; (3) carrier screening and reproductive counseling for Tay-Sachs and beta-thalassemia diseases; (4) a spectrum of feasibility (research) studies (e.g., screening for biotinidase deficiency, neuroblastoma, hemoglobinopathies, and cystic fibrosis) to inform policy decisions. QNGM performed economic analyses of its major programs and followed prevailing ethical guidelines. Its global budget and integrated structure terminated in 1994, although some of its programs continue independently.

In the current research milieu where genetic etiology is considered a critical component in the discovery of pathogenesis, aboriginal families and communities affected with genetic conditions may be considered as research participants. However, because of concerns about the impact of genetic information and historical harmful research practices, some aboriginal communities have considerable unease when faced with this prospect. Therefore, in the circumstance that genetics is considered an important part of research inquiry by aboriginal families and communities, there needs to be assurance that the research will be carried out according to mutual expectations. A research relationship that respects aboriginal individuals and communities within their culture and is in keeping with their values is essential. This respect extends to the use of biological samples, considering the DNA to be 'on loan' to the researcher for the purpose of the research for which consent was obtained. This paper will explore practical ways of maintaining a respectful research relationship when genetics research with aboriginal people is undertaken.

The protection of human subjects in biomedical research has become a source of increasing concern over the past century. During the early days of human experimentation, the human subject was rarely if ever consulted about his or her participation in research because scientists and physicians acted in the traditional paternalistic role with respect to their subjects and patients. However, as options for both researchers and their subjects increased, more attention was focused on the rights and obligations of participants on both sides of the research relationship. Investigators became more aware of the costs and benefits associated with their research programs, and subjects became more curious about the nature of research and what could be reasonably expected from their participation. This paper reviews the evolution of the doctrine of informed consent in biomedical research and the development of rules and guidelines for the conduct of research in the United States, for the benefit of both researchers and their human subjects.