Community genetics最新文献

Background: Using folktales we can find some aspects of social customs. Here, I show the situation of consanguineous marriages in folktales from different Iranian populations and try to compare it with the present situation of consanguineous marriages.

Methods: The study includes tales from 11 different Iranian (ethnic and/or geographical) populations. Overall, the records of 585 marriages in 296 folktales from the study populations were found.

Results: The estimated mean inbreeding coefficient (alpha) for different populations using folktale records is lower than that of the present values. However, there is a very high level of statistically significant correlation between them (r = 0.753, d.f. = 9, p = 0.007).

Conclusion: The historical background is very important to attitude and practice regarding marriages between relatives.

Keeping up with the volume of new genetic information emerging from the human genome project is a challenge for almost all healthcare providers, but nurses who received little or no formal genetic training often find it particularly intimidating. Nursing faculty may be reluctant to add genetic content to existing courses, much less tackle the work of teaching an entire course in genetics. This article provides nursing faculty with some strategies and straightforward curriculum modifications to assist them in integrating genetic content into graduate-level nursing curriculum. Advanced Practice Nurses in particular should understand genetics well enough to be aware of and appreciate the wide variety of genetic conditions that might be encountered in a clinical setting. The authors offer practical suggestions for incorporating genetics into Advanced Practice Nursing curricula.

Background: The objective of this study was to measure subject perspective and reaction to participation in the Personalized Medicine Research Project (PMRP) and to identify factors predicting understanding of the study elements.

Method: Self-administered questionnaires were mailed to 1,593 subjects (10% sample). The questionnaire had three sections: section A consisted of 21 factual questions; section B consisted of 14 questions to assess the level of understanding about the PMRP concepts, and section C asked about the purpose of the PMRP.

Results: The mean age of the 924 survey respondents was 52 years (SD = 16.9), with a range of 18-95 years. The majority of participants were female (n = 561, 61%). The percent of total correct responses for section A was significantly higher for females compared with males (males: 58.4% and females: 60.4%, t test = -2.18, p = 0.03) and age was significantly inversely related to percent of correct responses (beta coefficient = -0.122, p < 0.001). More than one third of the participants indicated that the USD 20 greatly influenced their decision to participate in the project. In a multiple logistic regression model, people living outside of Marshfield were significantly more likely to indicate that the USD 20 greatly influenced their decision to participate (odds ratio = 1.40, 95% confidence limit = 1.06, 1.86) and age was inversely related to the monetary influence on decision to participate (odds ratio = 0.98, 95% confidence limit = 0.97, 0.98).

Conclusion: Future community consultation efforts should highlight areas of lower understanding. In addition, research coordinators may need to take more time informing males and older individuals about project details so that they are making truly informed decisions about study participation.

In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located in tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure and characteristics of three cancer genetic services in Brazilian public health care hospitals and discuss alternatives for the identification and prevention of hereditary cancer syndromes in developing countries. The three services presented here are similar in their structure, routine procedures for cancer risk estimation and criteria for the indication of genetic testing. They all demand that genetic counseling be an essential part of the cancer risk evaluation process, before and after cancer predisposition testing. However, when high-risk patients are identified, all services describe difficulties in the access and continuity of genetic and medical services to the patient and his/her at-risk relatives. The services differ in the type of population served, reflecting distinct referral guidelines. This study emphasizes the importance of the creation of new cancer genetic services in other Brazilian regions and the necessity for establishing a collaborative network to facilitate the diagnosis and research of cancer genetic syndromes.

Background: Clinical genetic testing can help identify individuals who are predisposed to a variety of diseases and conditions; thus, it is important to understand attitudes and perceptions of individuals who may consider or who may be offered such testing.

Methods: We examined knowledge and attitudes about cancer genetic testing among 59 women of Ashkenazi Jewish descent (age 25-80 years) through six focus group discussions. Participants were asked about their knowledge and experience with hereditary conditions and genetic testing, and attitudes regarding risk management options, genetic privacy, and potential discrimination issues.

Results: Although 54% reported having a personal and/or some family history of breast, ovarian, or colorectal cancer, none had undergone cancer genetic counseling or testing and few expressed an interest or intention in doing so. While most endorsed benefits of genetic testing for those with a significant cancer family history, women also expressed concerns over the possible distress of learning that one carried a cancer-predisposing mutation and suggested that increasing cancer screening practices may be preferable to having genetic testing. Participants doubted the ability of state genetic privacy legislation to protect against insurance or employment discrimination.

Conclusion: Findings underscore the need for public education on the broad range of benefits and limitations associated with genetic testing, in order to help consumers to appropriately interpret complex information and make decisions about these services.

Objective: To evaluate the association of ultrasound findings and other factors with the decision to terminate trisomy-21-affected pregnancies.

Methods: We performed a retrospective analysis of trisomy-21-affected pregnancies diagnosed prior to 24 weeks' gestation. Data were collected on maternal age, indications for prenatal diagnosis, gestational age at diagnosis, marital status, race, parity and ultrasound findings. Logistic regression, chi(2), t test and Fishers exact test were used for statistical analysis.

Results: Fifty-nine pregnancies were identified with a termination rate of 72.9%. Termination rates were significantly lower in patients with major (50%) or minor (64%) ultrasound abnormalities than in patients with normal ultrasound exams (92%), p = 0.026 and 0.022, respectively. Patients who chose terminations were older (36.1 vs. 32.3), but this did not reach statistical significance (p = 0.059).

Conclusion: Patients with abnormal ultrasound results were more likely to continue a trisomy 21 pregnancy.

Background: Inspired by diffusion research, this paper examines how perceived need, health status, experiences with medicine and testing, consumption of mass media and sociodemography influence the public's familiarity, knowledge, attitudes and intentions regarding pharmacogenetics. The objective is to identify factors affecting the adoption pattern of pharmacogenetics in the public.

Method: The paper is based on an Internet-based questionnaire survey conducted in March 2005. A total of 3,000 representative Danes aged 18-70 years were included in the survey, representing a response rate of 58.9%.

Results/conclusion: Knowledge of pharmacogenetics, and thus the diffusion of the technology, is influenced by medicine consumption, experienced lack of effect and side effects, use of medical testing and perception of societal need. Increased knowledge is seen in all cases. The general perception of and attitude to pharmacogenetics is related to prior use of medical tests and perception of societal need for pharmacogenetics, which in both cases indicates an increased positive approach.

Introduction: The increasing number of prenatal tests for fetal abnormalities calls for a prenatal care policy which will reflect not only medical values, but also the needs and attitudes of the services' consumers.

Objectives: To compare attitudes of prenatal service consumers and providers regarding extent of prenatal testing and to evaluate these attitudes in relation to sociodemographic and professional characteristics.

Methods: Women were interviewed by phone 5-8 weeks postpartum (n = 596) using a structured questionnaire. Health professionals (n = 351) completed a parallel questionnaire.

Results: Health professionals were significantly more supportive of comprehensive prenatal testing than women (61.1 vs. 34.1%, respectively). In a multivariable analysis, age over 35, Ashkenazi origin and being better informed regarding tests, predicted a preference for comprehensive testing among women. Among health professionals, predictors of that attitude were secularism and a paramedical profession.

Conclusions: Providers and consumers of prenatal services differ in their perceptions and opinions. Policy makers should have mechanisms in place to properly represent this diversity.

Objective: This paper presents the results of the first public consultation for the creation of a large-scale genetic database, the Quebec CARTaGENE project. A consultation has been undertaken in order to gauge whether the general public is receptive to the project. An integral part of the approach of the researchers is to establish a dialogue with the public.

Methods: Two independent expert groups have carried out qualitative and quantitative studies measuring knowledge of and interest in genetics, incentives and obstacles to CARTaGENE participation and comprehension and evaluation of the communication tools.

Results: CARTaGENE is seen to hold promise for the greater population. However, reported across qualitative and quantitative studies is the concern for confidentiality and respect for the individual, transparency, the donor's right to feedback and governance. Participation would be conditional on a response to those concerns and a greater dissemination of information.

Conclusion: Community engagement in genetic research requires targeted communications, with an appropriate proportioning of information and communication, and a consideration of the 'values and personal interests' of individuals according to different societal segments.

The International HapMap Consortium has developed the HapMap, a resource that describes the common patterns of human genetic variation (haplotypes). Processes of community/public consultation and individual informed consent were implemented in each locality where samples were collected to understand and attempt to address both individual and group concerns. Perceptions about the research varied, but we detected no critical opposition to the research. Incorporating community input and responding to concerns raised was challenging. However, the experience suggests that approaching genetic variation research in a spirit of openness can help investigators better appreciate the views of the communities whose samples they seek to study and help communities become more engaged in the science.