Community genetics最新文献

{"title":"The impact of genetic outreach education and support to primary care on practitioner's confidence and competence in dealing with familial cancers.","authors":"J Bethea,&nbsp;N Qureshi,&nbsp;N Drury,&nbsp;P Guilbert","doi":"10.1159/000121400","DOIUrl":"https://doi.org/10.1159/000121400","url":null,"abstract":"<p><strong>Aims: </strong>To determine the level of competence and confidence in general practice in relation to the management of familial cancers and to determine the impact of providing genetic educational outreach on confidence and competence.</p><p><strong>Methods: </strong>Confidence and competence in dealing with familial cancers was measured using a postal questionnaire sent to all general practitioners and practice nurses in 4 geographical areas in central England. In 2 areas, genetic educational outreach was provided to 10 randomly selected practices and a matched analysis of questionnaire responses before and after intervention was done to determine the impact of the intervention.</p><p><strong>Results: </strong>Respondents were more confident in dealing with patient queries around familial breast cancer risk than those around bowel cancer. This was inconsistent with the ability to correctly assign familial risk, with 48% incorrectly assigning a high-risk categorisation to a low-risk breast cancer scenario. Respondents who had taken part in the intervention reported more confidence in dealing with issues related to the management of patient queries around bowel cancer. Following intervention, participants were more likely to report feeling confident in knowing the relevant family history to collect (72.4% of respondents from participating practices compared to 56.1% from non-participating practices; OR 2.39, p = 0.02, 95% CI 1.14-5.00) and in making a basic assessment of risk (72.4% compared to 38.9%; OR 3.65, p = 0.01, 95% CI 1.38-9.61).</p><p><strong>Conclusions: </strong>Providing genetic educational outreach has a positive impact upon how confident primary care staff feel in dealing with patient queries over familial cancers, particularly in relation to bowel cancer. Further research is needed to explore the impact of providing this service on other relevant outcomes such as appropriateness of referrals to genetic services.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 5","pages":"289-94"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000121400","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27452400","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":"Lessons learned while developing a cancer family history campaign in the Columbus, Ohio metropolitan area.","authors":"Amy C Sturm,&nbsp;Kevin Sweet,&nbsp;Patricia M Schwirian,&nbsp;Clint Koenig,&nbsp;Judith Westman,&nbsp;Kimberly M Kelly","doi":"10.1159/000121402","DOIUrl":"https://doi.org/10.1159/000121402","url":null,"abstract":"<p><p>This paper discusses the lessons learned by our collaborative, transdisciplinary team while developing a pilot/demonstration educational health campaign geared toward underserved communities in the Columbus, Ohio metropolitan area. The objective of the current study was to determine the feasibility of a campaign to raise awareness of the association between family history and cancer risk and to inform individuals of the availability of Jameslink, an online familial cancer risk assessment tool. The research team included members of The Ohio State University Primary Care Research Institute, which includes a unique combination of expertise in Genetics, Behavioral Science, Social and Health Psychology, Communication, Medicine, and Methodology. The experience of the team in developing university and community partnerships, identifying stakeholders and formulating campaign messages is described. Groups who aided in this process as well as the perspectives they brought to the project are discussed. The lessons learned may be helpful to those developing similar community health projects.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 5","pages":"304-10"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000121402","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27452402","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":"Successful strategies for increasing African American participation in cancer genetic studies: hopeful signs for equalizing the benefits of genetic medicine.","authors":"Annette R Patterson,&nbsp;Helen Davis,&nbsp;Kristin Shelby,&nbsp;Jerry McCoy,&nbsp;Linda D Robinson,&nbsp;Smita K Rao,&nbsp;Pia Banerji,&nbsp;Gail E Tomlinson","doi":"10.1159/000116881","DOIUrl":"https://doi.org/10.1159/000116881","url":null,"abstract":"<p><strong>Objective: </strong>To determine whether prior success in recruiting African Americans to an in-house cancer genetics registry could be duplicated when recruiting to a national registry requiring a significantly increased level of commitment. Additionally, to determine which recruitment sources and practices yielded the highest number of African American participants.</p><p><strong>Methods: </strong>A retrospective analysis of recruitment sources, practices, and results for recruitment to the Cancer Genetics Network (CGN; a national research registry), from 2000 to 2005 was conducted. These results were compared to previous experience in recruiting African Americans to the Family Cancer Registry (FCR; an in-house registry) during the period 1992-2005.</p><p><strong>Results: </strong>In the 1st year of recruitment to the CGN, African Americans accounted for 24% of those consenting to participate in the CGN registry from our center. This compares to an average annual rate of 27% for the FCR during the years 1998-2005, and a rate of less than 1% from 1992 to 1998. By 2005, African Americans accounted for 27% of CGN participants recruited through the University of Texas Southwestern Medical Center, one of eighteen participating institutions in the CGN. Hospital-based resources such as cancer treatment clinics and tumor registries yielded the highest percentage of African American participants (66.5%), and self-referral yielded the lowest (0%). Seventy-seven percent of African Americans were actively sought out and recruited from treatment clinics, whereas the vast majority of Caucasian participants were recruited passively during the course of genetic counseling sessions that were scheduled for reasons unrelated to participation in cancer research. There were no known instances of African Americans contacting CGN staff after reading printed recruitment materials or internet advertisements.</p><p><strong>Conclusions: </strong>The increased level of commitment required of CGN participants did not deter African Americans from participating in cancer genetics research. Recruitment strategies responsible for dramatically increasing recruitment rates to the FCR from 1998 to 2000 were equally effective when used for recruitment to the CGN. The most effective recruitment sources were high-yield venues such as cancer treatment clinics and tumor registries, and active recruitment methods yielded the highest number of African American participants. Advertising through internet announcements and printed recruitment materials did not appear to be effective.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"208-14"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116881","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388178","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 Italian external quality assessment scheme in classical cytogenetics: four years of activity.","authors":"G Floridia,&nbsp;V Falbo,&nbsp;F Censi,&nbsp;F Tosto,&nbsp;M Salvatore,&nbsp;A Baroncini,&nbsp;P Battaglia,&nbsp;A Conti,&nbsp;E Donti,&nbsp;R La Starza,&nbsp;L Nitsch,&nbsp;M Pierluigi,&nbsp;G Piombo,&nbsp;F Susca,&nbsp;M Mancini,&nbsp;C Mecucci,&nbsp;E Calzolari,&nbsp;F Dagna Bricarelli,&nbsp;G Guanti,&nbsp;D Taruscio","doi":"10.1159/000121401","DOIUrl":"https://doi.org/10.1159/000121401","url":null,"abstract":"<p><strong>Background: </strong>The Italian external quality assessment scheme in classical cytogenetics was started in 2001 as an activity funded by the National Health System and coordinated by the Italian Public Institute of Health.</p><p><strong>Objectives: </strong>The aim of our work is to present data from the first 4 years of activity, 2001-2004.</p><p><strong>Methods: </strong>Italian cytogenetics public laboratories were enrolled on a voluntary basis, and this nationwide program covered prenatal, postnatal and oncological diagnosis. The scheme is annual and retrospective; a panel of experts reviewed the quality of images and reports in order to assess technical, analytical and interpretative performance.</p><p><strong>Results: </strong>Over the 4-year period, the number of participating laboratories increased: from 36 in 2001, 46 in 2002, 49 in 2003 to 51 in 2004. The overall technical performance was satisfactory. Inadequacy or lack of information in reporting was the most frequent analytical inaccuracy identified in all parts of the scheme. However, the percentage of complete reports increased significantly during the period: by 36% in postnatal diagnosis between 2001 and 2004 (p < 0.001) and by 42% in oncological diagnosis between 2002 and 2004 (p = 0.003).</p><p><strong>Conclusions: </strong>Our experience reveals that participation in external quality assessment programs has significant advantages, helping to standardize and to assure quality in cytogenetic testing.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 5","pages":"295-303"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000121401","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27452401","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":"Prenatal screening and counseling in Iran and ethical dilemmas.","authors":"Mansooreh Saniei,&nbsp;Elnaz Jafari Mehr,&nbsp;Saeed Shahraz,&nbsp;Ladan Naz Zahedi,&nbsp;Ala Melati Rad,&nbsp;Saye Sayar,&nbsp;Roya Sherafat Kazemzade,&nbsp;Ahmad Shekarchi,&nbsp;Mohammad Reza Zali","doi":"10.1159/000121397","DOIUrl":"https://doi.org/10.1159/000121397","url":null,"abstract":"<p><strong>Objective: </strong>Prenatal screening has become an increasingly common procedure all over the world. It offers couples useful information relating to the health of their fetus, although it faces us with serious ethical dilemmas as well. This study was conducted to find out the attitudes of Iranian scholars towards prenatal screening and counseling with respect to ethical issues.</p><p><strong>Methods: </strong>Two hundred and one physicians, genetic and religious scholars were interviewed with regard to demographics and attitudes towards the ethical dilemmas in prenatal screening and counseling. Interviews were analyzed using the four-principle approach.</p><p><strong>Results: </strong>Findings showed scholars' attitudes towards: (1) the right of couples to choose prenatal screening, (2) the role of prenatal screening and counseling concerning termination of an affected fetus, (3) screening results and emotional distress in couples, and (4) the impact of prenatal screening and counseling on disability rate.</p><p><strong>Conclusion: </strong>Iranian scholars were willing to consider prenatal screening to help prevent transmission of diseases to the next generation. This goal is attained through the autonomous choice of the couple to participate in prenatal screening and counseling.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 5","pages":"267-72"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000121397","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27452517","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":"Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing?","authors":"Johanna H Kleinveld,&nbsp;Matthijs van den Berg,&nbsp;Jacques T M van Eijk,&nbsp;John M G van Vugt,&nbsp;Gerrit van der Wal,&nbsp;Daniëlle R M Timmermans","doi":"10.1159/000133309","DOIUrl":"https://doi.org/10.1159/000133309","url":null,"abstract":"<p><strong>Objectives: </strong>This study aims to find out whether offering prenatal screening for Down syndrome and neural tube defects influences pregnant women's attitudes toward having a screening test.</p><p><strong>Methods: </strong>Women were randomised into a group that was offered prenatal screening and a group that was not offered screening (controls). Both groups completed questionnaires before screening was offered, after the offer (not the control group), and in the last trimester of pregnancy.</p><p><strong>Results: </strong>Women with a neutral attitude at baseline who accepted the screening test had a more positive attitude, decliners became more negative and the attitude of the control group did not change.</p><p><strong>Conclusion: </strong>Offering prenatal screening triggers a change in some pregnant women's attitude regarding prenatal testing. This instability of women's attitudes may pose a problem for determining whether some women made an informed choice.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 6","pages":"368-74"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000133309","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27586319","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":"Healthy choices through family history: a community approach to family history awareness.","authors":"Claudia Petruccio,&nbsp;Kenna R Mills Shaw,&nbsp;Joann Boughman,&nbsp;Carlos Fernandez,&nbsp;Ilana Harlow,&nbsp;Margaret Kruesi,&nbsp;Penny Kyler,&nbsp;Michele A Lloyd-Puryear,&nbsp;James O'Leary,&nbsp;Amy Skillman,&nbsp;Sharon Terry,&nbsp;Fredrika McKain","doi":"10.1159/000133306","DOIUrl":"https://doi.org/10.1159/000133306","url":null,"abstract":"<p><strong>Background: </strong>The importance of family health history data in health care is widely acknowledged. Few individuals report having collected this information from their own family.</p><p><strong>Methods: </strong>This project implemented a community-based approach to design and pilot a linguistically and culturally appropriate family health history collection toolkit for two minority populations in Harrisburg, Pa.</p><p><strong>Results: </strong>The toolkit relied on oral traditions and family stories as a way to successfully introduce genetics education and family health history to these populations. Participants not only found the tool engaging and culturally appropriate, they were also able to obtain information that they were likely to share with their physician.</p><p><strong>Conclusion: </strong>While limited in scope, this project provides a model to other communities for the design, pilot testing, and implementation of a community-based public health initiative regarding family health histories.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 6","pages":"343-51"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000133306","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27586409","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":"Discharge and farewell.","authors":"Leo P Ten Kate","doi":"10.1159/000133302","DOIUrl":"https://doi.org/10.1159/000133302","url":null,"abstract":"","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 6","pages":"312"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000133302","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27586405","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":"A community genetics perspective on consanguineous marriage.","authors":"A H Bittles","doi":"10.1159/000133304","DOIUrl":"https://doi.org/10.1159/000133304","url":null,"abstract":"<p><p>Consanguineous marriage has long been a controversial topic, with particular attention focused on adverse health outcomes. Unfortunately, the studies that have been conducted on consanguinity to date have usually lacked control for important sociodemographic variables, such as maternal age and birth intervals, and in estimating specific disease gene frequency, they have ignored the influence of population sub-division. Inadequate attention has also been paid to the social benefits associated with intra-familial marriage, resulting in a biased overall cost-benefit assessment. Worldwide, some 1,000 million people live in countries where 20 to more than 50% of marriages are consanguineous, and large migrant communities from these regions are now resident in Western Europe, North America and Oceania. The need for comprehensive and more balanced investigations into all aspects of consanguineous marriage is pressing and merits a substantial international collaborative research effort.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 6","pages":"324-30"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000133304","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27586407","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":"BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer.","authors":"Lisa Kessler,&nbsp;Susan Domchek,&nbsp;Jill Stopfer,&nbsp;Chanita Hughes Halbert","doi":"10.1159/000116879","DOIUrl":"https://doi.org/10.1159/000116879","url":null,"abstract":"<p><strong>Objectives: </strong>To describe BRCA1 or BRCA2 (BRCA1/2) risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer and to identify factors having independent associations with these perceptions.</p><p><strong>Methods: </strong>Risk perceptions were evaluated by self-report during a structured telephone interview among African American women (n = 162) at increased risk for hereditary cancer who were recruited from oncology clinics, general medical practices, and community oncology resources.</p><p><strong>Results: </strong>The majority of women (75%) believed that it was likely that they had a BRCA1/2 mutation. Women ages 50 and younger and those with greater cancer-specific worry were most likely to believe that they had a BRCA1/2 mutation.</p><p><strong>Conclusions: </strong>Although BRCA1/2 risk perceptions may be consistent with objective risk levels among African American women, discussion about the basis of risk perceptions may enhance provision of genetic counseling and testing in this population.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"193-200"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116879","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388176","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}