Community genetics最新文献

Objective: To assess whether public understandings of inherited predisposition to colorectal cancer may undermine preparedness to respond to preventive messages.

Methods: Structured in-depth interviews with 31 women and men, aged 50 years and over.

Results: Most participants viewed genetic factors as prompts for taking preventive measures rather than as reasons for fatalism and inaction. They were optimistic about the potential benefits of new developments in cancer prevention and treatment.

Conclusions: There was little evidence of perceived genetic determinism in relation to colorectal cancer, but there were some significant misunderstandings about causes, prevention and treatment. These findings have important implications for public health communications about the contribution of genetics to cancer causation.

Background: Population-based estimates of biological family size can be useful for planning genetic studies, assessing how distributions of relatives affect disease associations with family history and estimating prevalence of potential family support.

Methods: Mean family size per person is estimated from a population-based telephone survey (n = 1,019).

Results: After multivariate adjustment for demographic variables, older and non-White respondents reported greater mean numbers of total, first- and second-degree relatives. Females reported more total and first-degree relatives, while less educated respondents reported more second-degree relatives.

Conclusions: Demographic differences in family size have implications for genetic research. Therefore, periodic collection of family structure data in representative populations would be useful.

Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.

Background/aims: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders.

Methods: The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied.

Results: The frequency of alpha-thalassaemia in the beta-thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -alpha(3.7) deletion, 0.9% for Hb Constant Spring and 0.3% for the -alpha(4.2) deletion.

Conclusion: Double heterozygosity for alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4.2) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.

In early 2002, the Dutch Ministry of Public Health, Welfare and Sport piloted the application of an interactive process to policy development in the field of medical biotechnology. In such an approach, relevant societal actors, including the public at large, are actively involved in an open exchange, planning, action and reflection process. This paper reports on the findings of one of the activities of the ministry within this initiative, the consultation of the public on dilemmas with respect to prenatal genetic testing by means of citizen panels. Participants were asked to reflect on questions with respect to whether and under which conditions pregnant women may have freedom of choice to use prenatal genetic testing. In a structured way, arguments in favour and against various positions were identified and prioritized. The paper closes with a discussion on the implications of the use of citizen panels and summarizes the 2 actual policy changes of the ministry that resulted from this process.

Objectives: The aim of this study was to examine the knowledge of and attitudes on the use of genetic information for medical purposes among the general public of Japan and to identify how the knowledge and attitudes correlate with gender, age and related factors.

Methods: A cross-sectional survey using a self-administered questionnaire was conducted from June to July 2004. Stratified random samples of 500 adults aged from 20 to 69 years, living in A-ward, Tokyo, Japan, were analyzed using a chi(2) test, t test and discriminant analysis (stepwise method).

Results: Findings showed 'interested in the use of genetic information for medical research', 'useful for making effective use of medicine' and 'useful for determining disorders to which one may be susceptible in the future' as the three related factors that influenced discrimination in respondents' attitudes. Of these, 'interested in the use of genetic information for medical research' had a standardized discriminant coefficient of 0.946, indicating greatest relevance to discriminating respondents' attitudes. The factors 'useful for making effective use of medicine' and 'useful for determining disorders to which one may be susceptible in the future' exhibited the next highest discriminant relevance. There was no significant difference in gender and age.

Conclusions: This study clarified the knowledge of and attitudes on the use of genetic information for medical purposes among the general public of Japan.

Objective: To increase accrual among Hispanics to the Cancer Genetics Network national cancer genetics registry.

Methods: Drawing from South Texas cancer registries, 444 Hispanic men and women were randomly assigned to one of three experimental conditions: standard direct-mailed procedures (X1), X1 plus culturally tailored materials (X2), and X2 plus interpersonal phone contact (X3). Participants were also surveyed about the effectiveness of the education materials and the phone contact. A refusal survey was provided for those who declined to join the study.

Results: A total of 154 individuals joined the Cancer Genetics Network. The X3 condition yielded the greatest accrual (43.2%) compared to X1 (30.9%) and X2 (29.9%; p < 0.05). Tailored materials appeared to have no effect but were highly regarded. The main reasons for not participating were a lack of interest and time requirements.

Conclusion: Interpersonal communication can have a powerful effect on recruitment. However, more research is needed to determine the cost-efficacy of more labor-intensive approaches to registry accrual.

Background/aims: Asian Americans have been underrepresented in cancer research. The purpose of this study was to evaluate the efficacy of a multiple arm recruitment approach in improving Asian recruitment into the Cancer Genetics Network (CGN).

Methods: 1,096 potential participants, identified through cancer registries located at University of California, Irvine (UCI) and Fred Hutchinson Cancer Research Center (FHCRC), were randomly assigned to receive one of four recruitment approaches.

Results: A 6.2% gain in Asian participation into the CGN was achieved over a 2-year period at FHCRC and UCI, which contributed a 2% CGN-wide increase in overall Asian enrollment. Site-specific differences in recruitment success by study arm were observed.

Conclusion: Novel recruitment approaches can assist in improving recruitment of Asian populations into cancer genetic research studies.

Objectives: In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population.

Method: This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.

Results: Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for beta-thalassaemia, 16,175 (25.6%) for alpha-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes.

Conclusion: The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous beta-thalassaemia.