Community genetics最新文献

Background/aims: Reduced minority participation in clinical research challenges researchers to consider novel recruitment modalities. This study describes a formal partnership between the National Educational Foundation of the Zeta Phi Beta Sorority and the Mid-Atlantic Cancer Genetics Network. The goal was to enhance awareness about inherited breast cancer and to increase enrollment in the national Cancer Genetics Network.

Methods: In this descriptive, pilot study, two recruitment strategies across four states were undertaken: an onsite educational session at four Annual State Leadership Conferences and a 2-tiered direct mail campaign to the sorority membership.

Results: Recruitment methods targeted over 1,200 well-educated African American women. Of the 279 attendees at the state conference educational sessions, only 3 women meeting the high risk eligibility requirement enrolled. Direct mail recruitment elicited 24 eligible women. Lessons learned are described.

Conclusion: Despite low accrual, the partnership laid a foundation for broader collaboration with the Zeta Phi Beta Sorority. In the future, collaboration with minority sororities and fraternities as part of standard registry recruitment should be explored.

Objective: To evaluate the consumption of flour derivatives and folate-rich food in a sample of women at childbearing age from Porto Alegre, Brazil.

Methods: Four-hundred women at childbearing age (15-45 years) were interviewed, and their socioeconomic status and folate intake were investigated. All women signed an informed consent form. Based on their dietary habits, an estimated calculation of the amount of flour intake was done.

Results: Mean daily intake of folate was 220.1 mug. The intake of flour was 176 g/day/woman. The combined intake of folate from folate-rich foods and flour derivatives (wheat and/or corn flour) was 404.7 mug/day/person.

Conclusion: Since the recommended daily allowance of folic acid is 400 mug/day, including both folate from food sources and supplements, the addition of folic acid to wheat flour was essential to ensure the intake of the minimum recommended amount. However, there is no guarantee that this amount was maintained on this Brazilian sample when losses resulting from cooking and/or from UV radiation (not considered in this study) are computed.

Background: We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births.

Objective: The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan.

Methods: In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family.

Results: There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions.

Conclusion: Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of beta-thalassemia in order to reduce disease occurrence through awareness and genetic counseling.

Objective: To explore lay perceptions about medicine and drug therapy (including gene-based therapy) in the present and in the future.

Background: Following almost a year of national debate, the Icelandic parliament passed the Health Sector Database (HSD) Act in 1998. No single issue has been as much debated in Iceland as this database. Despite the explosion of popular and scientific literature in the field of bioethics, there is still a paucity of research concerning 'lay' contributions to the debates.

Methods: The study was designed as a qualitative study. Focus groups (FGs) were conducted followed by one-on-one interviews with the FG moderator. PARTICIPANTS were asked to comment on a future scenario consisting of predictions concerning the consequence of the Human Genome Project over the next 40 years.

Participants: Forty-two persons participated in eight FGs in Iceland. The Icelandic moderator was interviewed in English after each group.

Conclusions: The lay public was relatively optimistic with regard to the future of drugs and gene-based therapy. Reasons for this optimism can be found in a basic trust and belief in the welfare state and the health system. These results are not consistent with studies carried out in other countries where the public appears to be focused on the negative effects of genetic research and the threats to privacy. Most participants expressed concern about potential problems with regard to social and equity issues, whereas the HSD controversy, a discourse based on the rhetoric of bioethics, was at variance with the issues focused on by the lay public.

Background: Advances in genomics will open up opportunities in the fields of genetic testing, early diagnosis and disease treatment. While neonatal screening is the field of application par excellencefor these developments, the debate on its potential benefits and drawbacks is mainly theoretically driven and based on the opinions of professionals.

Methods: We conducted a qualitative study of the perceptions, preferences and needs of parents (and parents to be) with respect to expansion of the neonatal screening programme. Seven focus group discussions were conducted. Using disease scenarios, 4 examples of conditions amenable to neonatal screening were discussed in depth. All focus group discussions were audio taped and content analysed.

Results: Participants thought that the medical benefits of screening were very important for the child. Assuming the availability of effective early medical treatment, almost 100% would be willing to participate in a screening programme. If such treatment were absent, their potential willingness would be much lower.

Conclusions: The divergence in attitudes and preferences we found in this study reflected the complexity inherent in any consideration of screening for additional conditions. To implement such options successfully and to direct applied research in genomics, it is important to develop a better understanding of the thinking of target groups, namely parents.

Background: The purpose of this study is to investigate the sociodemographic and health characteristics associated with the willingness to donate a DNA sample, and consent to testing and long-term storage of that sample, among participants in a longitudinal community-based survey.

Sample: Eighty-three percent of the 1,071 participants interviewed in 2004/5 agreed to donate a biological specimen (blood or buccal).

Results: Age was consistently inversely associated with the willingness to allow genetic testing (OR 0.97; p < 0.05), but was unrelated to the willingness to donate or allow storage. There was no association between race and the consent to donate a specimen, but Blacks were less likely to consent to DNA storage for future research as compared with members of other racial groups (OR 0.50; p < 0.01). Four conditions were listed on the consent form as relevant to the genes targeted for assay. Participants with a family history of 1 or more of these conditions were more likely to donate than those without (OR 1.68; p < 0.01). Participants with a personal history of 1 of the 4 conditions listed were not more or less likely to donate, allow testing or allow storage than respondents without such a history.

Conclusions: Sociodemographic characteristics were unrelated to the willingness to donate a biological sample. Age, but not race, sex or education, was related to consent to genetic testing. Race, but not age, sex or education, was related to consent to storage. A family history of health conditions listed as relevant to the assays being requested was related to the willingness to donate. Factors that affect the willingness to donate a biological sample in an epidemiologic study are not the same as those associated with the willingness to allow genetic testing or storage of that sample for unspecified future research.

The population of Tunisia rose from 2.7 millions before the Second World War to 10,074,951 in 2005. Modern Tunisians are the descendents of indigenous Berbers and of people from various civilizations that were assimilated into the population over the centuries. Since its independence in 1956, Tunisia has enjoyed a stable political regime. The social landscape has also changed, based on the declaration of the Code of Personal Status, and on the nationwide education and economic progress. Consanguineous marriages are prevalent, with the same distribution between maternal and paternal relatives' offspring. Large and consanguineous families contributed to the description of a number of new autosomal recessive conditions and to identify new loci and genes. Genetic disorders are common in Tunisia, where most people are receptive to health guidelines. Selective abortion of an affected fetus is legal in Tunisia. Contraception is encouraged. This paper reviews common genetic disorders in the country. In spite of the high quality of health care services provided in Tunisia and the progress made in genetic research in the country, genetic services still remain insufficient and do not cover all parts of the country. At present, genetic counseling and prenatal diagnosis seems to be the method of choice to prevent genetic diseases in Tunisia, and such services should be developed as a priority despite the financial costs of such a program.

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.

Objectives: To evaluate prenatal screening methods for Down syndrome and neural tube defects (NTD) with regard to costs per detected case and the number of screening-related miscarriages.

Methods: The screening methods compared were risk assessment tests, i.e. serum tests and nuchal translucency measurement (NT), and invasive testing through chorionic villus sampling (CVS) or amniocentesis. Costs, the number of cases detected and screening-related miscarriages were calculated using a decision tree model.

Results: The costs per detected case of Down syndrome ranged from EUR 98,000 for the first-trimester (serum) double test to EUR 191,000 for invasive testing. If NTD detection was included, the (serum) triple test had the lowest costs, EUR 73,000, per detected case of Down syndrome or NTD. The number of screening-related miscarriages due to invasive diagnostic tests varied from 13 per 100,000 women for the (serum) first- and second-trimester combined test to 914 per 100,000 women for invasive testing.

Conclusions: Considering screening for both Down syndrome and NTD favors the triple test in terms of costs per detected case. Compared to invasive testing, risk assessment tests in general substantially lower screening-related miscarriages, which raises the question of whether invasive testing should still be offered in a screening program for Down syndrome.