Community genetics最新文献

Objectives: In preparation for the development of an educational intervention on Alzheimer disease (AD) genetics, we undertook a pilot survey of knowledge in this area and attitudes toward genetic testing for AD among individuals with a family history of AD.

Methods: For the pilot study, we administered a 30-min questionnaire to 57 unaffected individuals from a genetic linkage study. For the focus groups, we interviewed two groups of subjects, ages 44-70 years, with a family history of AD, one of 10 Caucasians and the other of 6 African-Americans.

Results: The pilot study showed that there was limited knowledge of genetics overall and AD genetics in particular, considerable concern about personal risk, and little knowledge of or interest in genetic testing for the disease. The focus groups reinforced and fleshed out these impressions and highlighted the importance of caregiving experience in the attitudes toward personal risk for AD.

Conclusions: These results underscore the value of genetics education for this and other complex diseases and suggest specific foci for educational interventions.

Objectives: We explored the opinions of 40 Black Americans regarding: (1) what they thought most Blacks and Whites believe about genetic causes for perceived race differences in human traits, and (2) the impact of genetic science on them, their families, and Black people.

Methods: We conducted in-depth telephone interviews with 40 self-identified Black men and women. Transcripts of the interviews were recorded and examined for common themes.

Results: The majority of our respondents felt that most Whites, unlike most Blacks, attribute differences between these groups to genetic factors. Many in our sample felt that genetic advances may provide benefits in the area of health care, but many also recognized potential harm.

Conclusions: Our results provide a glimpse as to what some Blacks believe about genetic science in the context of racial issues.

Objective: To evaluate the prevalence of the awareness of and the behaviour towards folic acid in 2003 and the trend of folic acid use among pregnant Dutch women between 1995 and 2003 with regard to socio-economic status (SES).

Method: We conducted 2-yearly cross-sectional studies among pregnant women who filled in a questionnaire during the first or second antenatal visit. The highest achieved level of education was taken as a proxy for SES.

Results: In 2003 the general level of folic acid awareness was high but with significant differences relating to SES; a quarter of the lower educated women did not know about folic acid before pregnancy. Of the subjects with a lower SES 20% knew the correct period of use compared with nearly 50% in the higher SES group. The reported correct use of folic acid among the lower educated women has decreased over the past 3 years (22% in 2003), while it has increased for the higher SES groups (59% in 2003), implying larger differences in health.

Conclusion: In 2003, 8 years after a mass media campaign, awareness and use of folic acid were increased considerably in comparison with the start of the campaign. However, differences in knowledge and use of folic acid with respect to the level of education had never been so impressive in the Netherlands as in 2003. A once-only campaign has a short-term effect especially for lower educated women. Implementing strategies to promote folic acid use in daily structural health care systems are needed.

Background: Women with a family history of breast cancer increasingly seek genetic advice and screening. In the present study we investigated referral rates and factors associated with long-term attendance for screening in Scotland.

Methods: We investigated referral rates to the genetic service over a 21-month period and long-term attendance for screening amongst the 226 women at increased risk of developing breast cancer.

Results: The overall annual referral rate was 0.31 per 1,000 patients on general practitioners' lists. Some 98% of women for whom it was appropriate attended at least one screening appointment and 88% were continuing to attend appointments for surveillance up to 5 years later. Attendance was significantly lower among more socially deprived patients (p < 0.01).

Conclusions: These results suggest that as increasing numbers of women with a positive family history seek risk assessment and screening, current facilities may be inadequate.

Objectives: The purpose of this project was to evaluate the potential of the downward hierarchical clustering analysis (DHCA) for studying genetic heterogeneity, i.e. differences in allele frequency in subpopulations, such as the 15 public health regions of the province of Québec (Canada).

Methods: The study relied on an anonymized sample of 1,680 individuals who had participated in the Québec Heart Health Survey in 1990-1991. The genotyping of 11 variants in 8 candidate genes known to be involved in chronic inflammatory diseases, namely asthma and cardiovascular diseases, was performed using the amplification refractory mutation system and restriction fragment length polymorphism techniques. Only variants showing an allelic frequency >2% in the Québec Heart Health Survey (n = 8) were selected. DHCA techniques were then applied to model the geographical distribution of these 8 genetic variants in 15 Québec public health regions and to study genetic heterogeneity.

Results: The DHCA allowed to group public health regions and gene variants on the basis of genetic variability. For both asthma and cardiovascular diseases, 3 significant clusters of public health regions and 1 cluster of gene variants were identified.

Discussion: This study suggests that DHCA might be useful in studying genetic heterogeneity at the population level and for public health activities.

The surge of information generated by the Human Genome Project has left many health professionals and their patients struggling to understand the role of genetics in health and disease. To aid the lay public and health professionals, the US National Library of Medicine developed an online resource called 'Genetics Home Reference' (GHR), located at http://ghr.nlm.nih.gov/. Launched in April 2003, GHR's goal is to help the public interpret the health implications of the Human Genome Project. It bridges the clinical questions of consumers and the rich technical data emerging from the sequenced human genome. The GHR web site is designed for easy navigation among summaries for genetic conditions and the related gene(s) and chromosome(s). This design strategy enhances the user's appreciation of how genes, chromosomes, and conditions are interrelated.

This article examines the 'knowledge deficit' model, which still persists in liberal, technological societies. It is based upon the assumption that expert forms of knowledge, both in the sciences and the humanities, provide a sufficient basis for deciding the most important public policy questions. In this view, public perceptions and beliefs that run counter to this expert knowledge provide unacceptable justifications for public policies. Instead, support of expert knowledge needs to be 'built' through education and public relations strategies. This view is challenged on the basis of basic democratic theory, using the debate about genetically modified maize in Mexico as an example. 'Knowledge deficits' also exist on the side of experts.

This paper analyses the recent widespread moves to 'restore' public trust in science by developing an avowedly two-way, public dialogue with science initiatives. Noting how previously discredited and supposedly abandoned public deficit explanations of 'mistrust' have actually been continually reinvented, it argues that this is a symptom of a continuing failure of scientific and policy institutions to place their own science-policy institutional culture into the frame of dialogue, as possible contributory cause of the public mistrust problem.

This paper analyses the difficulties experienced by three large European DNA biobanks. The first, Icelandic-based deCode, generated immense commercial interest and intense ethical controversy. As a biotechnology company, deCode succeeded, but the Icelandic Health Sector Data Base failed. The second firm, Swedish UmanGenomics, marketed itself as the 'ethical' biotech company. Management problems including the inadequate recognition of intellectual property issues led to the company failing to secure adequate investment. The third and largest, UK Biobank, has, as a non-profit organization, not experienced these problems. But when the product - bio information--is marketed, the issue of ethically acceptable purchasers could well become contentious.

Hemoglobinopathies are a very important health problem in Turkey. To date many studies have been performed but there has been no national hemoglobinopathy control program (HCP). After the Turkish National Hemoglobinopathy Council (TNHC) was created all centers, foundations, and associations were combined into one organization controlled by the Ministry of Health (MOH). The MOH and the TNHC have started to register the results of the screening of 377,339 healthy subjects from 16 different cities and the recorded average frequency of the beta-thalassemia trait was 4.3%. The highest prevalence of thebeta-thalassemia trait (13.1%) was found in the Antalya region and of the HbS trait (10%) in the Cukurova region. Next, written regulations for the Fight against Hereditary Blood Disease were published especially for preventing and treating hemoglobinopathies. The MOH and the TNHC selected 33 provinces situated in the Thrace, Marmara, Aegean, Mediterranean and South Eastern regions with a high birth prevalence of severe hemoglobinopathies. The hemoglobinopathy scientific committee was set up, a guidebook was published and a national HCP was started in these high-risk provinces.