The role of the World Health Organization in promoting medical genetics in Latin America

The Human Genetics Program of the World Health Organization (WHO) has analyzed the needs for genetic services worldwide and the promotion of genetic approaches for the prevention of diseases linked to primary health care. This article presents a summary of the most important initiatives of the WHO in this field, which have served as a background for the Consultation in Medical Genetics in Latin America, which took place in Porto Alegre, Brazil, in June 19, 2003, and whose working reports are published in this special issue of Community Genetics.     

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.     

Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine

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.     

Improving access to and utilization of genetic services in Arizona's Hispanic population

This abstract presents a model project aimed to train community lay health workers about genetics, increase cultural competency of genetic services providers, and provide local access to genetic services in primarily Hispanic communities in the state of Arizona. Health Start, a community-based prenatal outreach program, served as the basis for providing genetic education and services. A genetics training curriculum was developed and training of community lay health workers was provided. Cultural and Spanish language training was provided for all genetic services providers. Pediatric genetics outreach clinics were established in eight communities. Community-based lay health workers eagerly incorporate genetic information into their public health knowledge base, but this may not lead to acceptance of these personnel by local health care providers as sources of referrals for specialized health services such as genetics. Cultural competence training of genetic service providers is enthusiastically accepted and utilized in the provision of locally accessible genetics clinics.     

Prediction of CHF in concentric-tube open thermosiphon using artificial neural network and genetic algorithm

In this paper, an artificial neural network (ANN) for predicting critical heat flux (CHF) of concentric-tube open thermosiphon has been trained successfully based on the experimental data from the literature. The dimensionless input parameters of the ANN are density ratio, ρ _l/ρ _v; the ratio of the heated tube length to the inner diameter of the outer tube, L/D _i; the ratio of frictional area, d _i/(D _i + d _o); and the ratio of equivalent heated diameter to characteristic bubble size, D _he/[σ/g(ρ _l−ρ _v)]^0.5, the output is Kutateladze number, Ku. The predicted values of ANN are found to be in reasonable agreement with the actual values from the experiments with a mean relative error (MRE) of 8.46%. New correlations for predicting CHF were also proposed by using genetic algorithm (GA) and succeeded to correlate the existing CHF data with better accuracy than the existing empirical correlations.     

Existence and uniqueness of solutions for a nonlinear diffusion problem arising in population genetics

Communicated by J. Serrin     

Bifurcations and chaos of a discrete-time model in genetic regulatory networks

Nonlinear Dynamics - In this paper, the dynamics of a discrete-time genetic model is investigated. The existence and stability conditions of the fixed points are obtained. It is shown that the...     

The burden of genetic disorders in India and a framework for community control

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, there is a high prevalence of genetic disorders in India. An estimated 495,000 infants with congenital malformations, 390,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with beta-thalassaemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year. The prevalence of late-onset multi-factorial disorders (including coronary artery disease, hypertension and psychiatric disorders) is also large. Due to inadequate diagnostic, management and rehabilitation facilities, the burden of these disorders is greater than in Western countries. Although genetic diseases receive little attention from the health services, research funding by the government has been liberal. Community control of common disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high priority, and genetic services should be integrated into the existing primary health care and medical services. Most genetic counselling would have to be provided through training physicians who staff the district and medical school hospitals. To ensure future progress, there is a need to establish additional departments of medical genetics in medical schools.     

Crack detection in a shaft by combination of wavelet-based elements and genetic algorithm

A new crack detection method is proposed for detecting crack location and depth in a shaft. Rotating Rayleigh-Euler and Rayleigh-Timoshenko beam elements of B-spline wavelet on the interval (BSWI) are constructed to discretize slender shaft and stiffness disc, respectively. According to linear fracture mechanics theory, the localized additional flexibility in crack vicinity can be represented by a lumped parameter element. The cracked shaft is modeled by wavelet-based elements to gain precise frequencies. The first three measured frequencies are used in crack detection process and the normalized crack location and depth are detected by means of genetic algorithm. To investigate the robustness and accuracy of the proposed method, some numerical examples and experimental cases of cracked shaft are conducted. It is found that the method is capable of detecting crack in a shaft.     

Control and analysis of epilepsy waveforms in a disinhibition model of cortex network

Considering the disinhibition circuit between inhibitory neuronal populations with different time scales in cortical neural networks, here we propose a novel model to describe the occurrences and transitions of epilepsy waveforms. With the model we can successfully simulate poly-spike complexes, which are common in electrophysiological experiments and focal epilepsy patients. Meanwhile, we focus on the dynamic transitions between epilepsy waveforms and normal state and are devoted to exploring effective electrical stimulation strategies. Results show that disinhibition can induce an epileptic bidirectional transition, which is from spike and wave discharges, to poly-spike complexes and then to low-voltage rapid discharge activity, or it is reversed. And fascinating dynamical transition behaviors can be induced by varying average inhibitory synaptic gain. Interestingly, after applying two different control signals (deep brain stimulation and oscillatory input) to the system, all epilepsy waveforms can be suppressed or even eliminated. Results shed light on the pathophysiological mechanisms of epilepsy and guide clinical treatment from a theoretical viewpoint.