Community genetics最新文献

{"title":"Community genetics in the era of public health genomics.","authors":"Leo P ten Kate","doi":"10.1159/000111633","DOIUrl":"https://doi.org/10.1159/000111633","url":null,"abstract":"CG prefers to stay realistic and focus on what is technically possible already. Some regard CG as just another name for PHG or as just a small part of PHG [3, 4] . I hope to have convinced you that this cannot be the truth. Although CG and PHG have much in common, the differences cannot be ignored. Although hands and feet belong to the same body and have much in common, they cannot replace each other. Therefore, by wishing the new editors of Public Health Genomics all the best, the last word in this debate has not been said. PHG has been very productive in organizing support for their case so far. CG, however, has started recently to decrease the arrears by developing a new international multidisciplinary network. Those interested to become a member or to receive more information should send an e-mail to commgennet@gmail.com. Leo P. ten Kate, Amsterdam This eleventh volume (2008) of Community Genetics will be the last of this journal under its original name. It is also the final one after these 11 years I have the privilege to serve as editor-in-chief. From the twelfth volume (2009) onwards the journal will be continued under the new title Public Health Genomics , and I wish the new editors all the best. Notwithstanding community genetics or genomics (CG) and public health genetics or genomics (PHG) have much in common, there are important differences. As I have explained on several occasions the aim of PHG, to improve population health, is distinct from the goal of CG, to maximize benefits and minimize harm and discomfort from the application of medical genetics or genomics for as many individuals in the community as possible [1, 2] . One consequence of this difference is the ability of CG to deal with sensitive issues such as reproductive choices or presymptomatic testing for serious untreatable disorders, which cannot be justified by calling upon public health. The difference is also reflected in measures to assess the effectiveness of both: compliance and improvement of public health in PHG and empowerment of individuals with regard to informed decision making in CG. Other distinctions between CG and PHG relate to the size of the targeted population groups and the prevalence of the individual diseases in question. Public health is not improved convincingly by focussing on small communities and their particular problems, or by putting energy in dealing with rare diseases, while CG has no objection whatever to target these challenges. These distinctions have a parallel in the present overstretched expectations of PHG with regard to future applications of genetics and genomics in the combat of very common diseases, where","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111633","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41065412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic testing for familial cancer. The French National Report (year 2003).","authors":"François Eisinger","doi":"10.1159/000111640","DOIUrl":"https://doi.org/10.1159/000111640","url":null,"abstract":"<p><strong>Background: </strong>Since 2002, hereditary cancer gene testing has been funded at the national level in France. Here we report on the impact of this funding on the number of tests carried out and specify the genes/syndromes on which these tests focus.</p><p><strong>Methods: </strong>All French laboratory facilities funded had to submit a report on their activities to the French Health Ministry in March 2004.</p><p><strong>Results: </strong>Funding has led to an increase of >344% in the number of tests carried out between the years 2000 and 2003. For every 100,000 inhabitants, 16.02 cases with a familial cancer syndrome (index cases subjected to 'diagnostic genetic testing') and 4.44 relatives of an index case with a proven mutation were tested. The overall mutation detection rate was 15.2% in the case of breast cancer genes and 17.2% in that of mismatch repair genes.</p><p><strong>Conclusion: </strong>In France, the current mutation detection rate is high in comparison with the 10% benchmark level. A further increase can be expected to occur in the number of tests carried out in the future.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"63-7"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111640","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40840288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Family physicians' beliefs about genetic contributions to racial/ethnic and gender differences in health and clinical decision-making.","authors":"Esther Warshauer-Baker, Vence L Bonham, Jean Jenkins, Nancy Stevens, Zintesia Page, Adebola Odunlami, Colleen M McBride","doi":"10.1159/000133307","DOIUrl":"10.1159/000133307","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 6","pages":"352-8"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399248/pdf/nihms-271280.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27586410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders.","authors":"Y C Wee,&nbsp;K L Tan,&nbsp;K Kuldip,&nbsp;K S Tai,&nbsp;E George,&nbsp;P C Tan,&nbsp;P Chia,&nbsp;R Subramaniam,&nbsp;S F Yap,&nbsp;J A M A Tan","doi":"10.1159/000113874","DOIUrl":"https://doi.org/10.1159/000113874","url":null,"abstract":"<p><strong>Background/aims: </strong>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.</p><p><strong>Methods: </strong>The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 3","pages":"129-34"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000113874","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27352177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Special issue: enhancing minority recruitment into genetics research.","authors":"Deborah J Bowen,&nbsp;Victor B Penchaszadeh","doi":"10.1159/000116876","DOIUrl":"https://doi.org/10.1159/000116876","url":null,"abstract":"people are healthier than people not recruited, and (2) the high quality treatment, surveillance, and follow-up provided to participants in clinical trials versus the more variable quality provided to the general public. For these reasons, it is important to come up with methods to improve access to research participation for disadvantaged minorities. Therefore, we need to identify methods of increasing participation of ethnic minorities into genetic research projects. To date, recruitment into cancer genetics studies has mostly focused on enriched families with multiple cases of the cancer under study, often from clinical settings where genetic testing is provided [6] . Furthermore, patients recruited for those studies have been mostly Caucasian or White, with little targeted efforts to engage nonWhite participants in research. Given that minority participation in research is lagging and that knowledge on minorities is important to inform cancer prevention and care policies, the National Cancer Institute funded the Cancer Genetics Network with the task to research on minority participation in cancer studies and find methods to enhance it. The articles in this special issue of Community Genetics present a variety of approaches to enhance minority recruitment into large, populationbased studies. We hope that this collection of studies will help investigators to enhance recruitment of minority participants in their studies and that this will lead to better ways of preventing cancer. Participation of families and patients from ethnic minorities in health research in general and genetics research specifically is lower than participation from Caucasian families in the US [1] . This lower participation of minorities is problematic from both a scientific and a social justice viewpoint. From a scientific standpoint, lack of participation of ethnic minorities prevents the exploration of specific ethnic differences in patterns of disease [2–4] . In turn, the lack of study of the genetic patterns of disease and risks among diverse ethnic and racial groups leads to the inability to identify differential risks among ethnic groups. Furthermore, although it is widely recognized that health disparities between ethnic groups are overwhelmingly environmental in nature (differences in socioeconomic status, education, culture, lifestyles, etc.) [5, 6] , the lack of genetic studies in minorities prevents to rule out that differences in health status among ethnic groups could be due in part to genetic differences. This knowledge is critical as we move forward to apply genetic approaches to modern medicine. From a social justice standpoint, it is important to create research settings that have equitable access to participate for all persons, independent of ethnic background and other social status and structure variables. There is some evidence that people who participate in research projects, specifically clinical trials, report better health outcomes than do people w","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"189-90"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116876","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The public's attitudes towards the use of genetic information for medical purposes and its related factors in Japan.","authors":"Wakaha Ikeda","doi":"10.1159/000111636","DOIUrl":"https://doi.org/10.1159/000111636","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>This study clarified the knowledge of and attitudes on the use of genetic information for medical purposes among the general public of Japan.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"18-25"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111636","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40840283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Public perception of prenatal genetic testing: arguments put forward by the public during a participatory policy project in the Netherlands.","authors":"Tjard de Cock Buning,&nbsp;Jacqueline E W Broerse,&nbsp;Joske F G Bunders","doi":"10.1159/000111700","DOIUrl":"https://doi.org/10.1159/000111700","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"52-62"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111700","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40840287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.","authors":"A Cao,&nbsp;R Congiu,&nbsp;M C Sollaino,&nbsp;M F Desogus,&nbsp;F R Demartis,&nbsp;D Loi,&nbsp;M Cau,&nbsp;R Galanello","doi":"10.1159/000113873","DOIUrl":"https://doi.org/10.1159/000113873","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Method: </strong>This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 3","pages":"121-8"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000113873","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27352176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytochrome p450 enzyme polymorphism frequency in indigenous and native american populations: a systematic review.","authors":"Cheedy Jaja,&nbsp;Wylie Burke,&nbsp;Ken Thummel,&nbsp;Karen Edwards,&nbsp;David L Veenstra","doi":"10.1159/000113876","DOIUrl":"https://doi.org/10.1159/000113876","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of our study was to evaluate the evidence on the prevalence of cytochrome P450 enzyme polymorphisms as potential genetic factors influencing drug efficacy and safety in the indigenous populations of the American hemispheres.</p><p><strong>Methods: </strong>We conducted a systematic review of studies published between 1985 and 2006 using the Pubmed database.</p><p><strong>Results: </strong>We identified only 10 original research studies on CYP2A6, CYP2D6, CYP2C9, CYP2C19 and CYP2E1 in 13 indigenous American populations. Interethnic differences in the frequency of CYP450 genetic variants existed both among the examined indigenous populations and in comparison with African, Asian and European populations.</p><p><strong>Conclusions: </strong>There are surprisingly few data on CYP450 enzyme polymorphisms in indigenous American populations, and it is difficult to draw any clear inferences about how these populations might be expected to respond to drugs in relation to other racial or ethnic groups. This lack of information could create a barrier to the use of pharmacogenetic testing in these populations. Collaborative partnerships between indigenous communities and researchers are needed to avail the clinical benefits of CYP450 enzyme polymorphism testing to indigenous populations.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 3","pages":"141-9"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000113876","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27352179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Testing three different cancer genetics registry recruitment methods with Hispanic cancer patients and their family members previously registered in local cancer registries in Texas.","authors":"Amelie G Ramirez,&nbsp;Alexander R Miller,&nbsp;Kipling Gallion,&nbsp;Sandra San Miguel de Majors,&nbsp;Patricia Chalela,&nbsp;Sandra García Arámburo","doi":"10.1159/000116882","DOIUrl":"https://doi.org/10.1159/000116882","url":null,"abstract":"<p><strong>Objective: </strong>To increase accrual among Hispanics to the Cancer Genetics Network national cancer genetics registry.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"215-23"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116882","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}