Community genetics最新文献

{"title":"Testing targeted approaches to enhance Cancer Genetics Network minority recruitment within Asian populations.","authors":"Lari Wenzel,&nbsp;Deborah Bowen,&nbsp;Rana Habbal,&nbsp;Nancy Leighton,&nbsp;Thuy Vu,&nbsp;Hoda Anton-Culver","doi":"10.1159/000116884","DOIUrl":"https://doi.org/10.1159/000116884","url":null,"abstract":"<p><strong>Background/aims: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>Novel recruitment approaches can assist in improving recruitment of Asian populations into cancer genetic research studies.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"234-40"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116884","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388181","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":"Awareness of genetic testing for cancer among United States Hispanics: the role of acculturation.","authors":"Julia E Heck,&nbsp;Rebeca Franco,&nbsp;Janine M Jurkowski,&nbsp;Sherri Sheinfeld Gorin","doi":"10.1159/000111638","DOIUrl":"https://doi.org/10.1159/000111638","url":null,"abstract":"<p><strong>Background: </strong>The purpose of this study was to determine how acculturation affected awareness of genetic testing for cancer among Hispanic Americans.</p><p><strong>Methods: </strong>Subjects were 10,883 Hispanic respondents from the 2000 and 2005 National Health Interview Surveys. Acculturation was measured with language use and the length of time subjects had lived in the US. Weighted logistic regression was used to determine subjects' awareness of genetic susceptibility testing.</p><p><strong>Results: </strong>Greater use of English (adjusted odds ratio, OR = 1.25, 95% confidence interval, CI = 1.15-1.36) was associated with increased awareness of genetic testing. Residence in the US for less than 5 years (adjusted OR = 0.55, 95% CI 0.36-0.83) was associated with lower awareness of testing.</p><p><strong>Conclusions: </strong>To better inform diverse American groups about genetic testing, intercultural variations and language skills must be taken into account.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"36-42"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111638","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40840285","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":"Increasing minority participant enrollment into a cancer family registry: the Cancer Genetics Network.","authors":"Deborah J Bowen,&nbsp;Thuy Vu,&nbsp;Carol Kasten-Sportes","doi":"10.1159/000116877","DOIUrl":"https://doi.org/10.1159/000116877","url":null,"abstract":"design and implement studies at each site to test the usefulness of new recruitment strategies, processes, or incentives. A published paper came out of this initial effort to review the literature on this topic [2] , as well as a series of ideas and processes to test within the CGN sites. The research team formed working groups, based on scientific expertise located at each center, populations existing in the catchment area of each site, and interest in participating in an effort in minority recruitment. Each of the working groups focused on a package of a different ethnic minority population and a different strategy. The centers at Duke and Georgetown Universities conducted a randomized trial of a recruitment brochure in which the content for potential African American enrollees to the CGN was targeted and enhanced based on formative research with the targeted population. Investigators at the University of Pennsylvania tested the offering of personal risk feedback as an incentive to join CGN, adding questions to the standard CGN survey to capture reactions to the feedback. Efforts at Johns Hopkins focused on working with African American sororities as community contacts to enhance enrollment into the network. The group at the University of Texas conducted a randomized trial to test the effects of a targeted print media product, a magazine, to enhance recruitment of Hispanic participants into the CGN. The collaborative study conducted by investigators at both the University of California Irvine and the Fred Hutchinson Cancer Research Center In 1998, the National Cancer Institute funded an innovative national Cancer Genetics Network (CGN) which provides participating researchers access to a breadth of research data not currently available to most individual cancer genetics programs. The CGN is composed of eight centers around the nation which are linked to a central informatics center. The Network supports collaborations to investigate the genetic basis of cancer susceptibility, explore mechanisms to integrate this new knowledge into medical practice, and identify ways to address associated psychosocial, ethical, legal, and public health issues [1] . As of May 2002, the CGN contained data on 15,007 participants and 241,948 family members. The majority of CGN participants were of Non-Hispanic White/Caucasian ethnicity (90%), with few numbers of Hispanic (4%), Black (3%), Asian (1%), and other ethnicities (2%). These participation figures did not match those of the general public, nor did they match the catchment areas of the participating sites in the CGN. The investigators and NIH staff reviewed the disparities in recruitment yield 4 years after the registry funding period began, and decided to take action to improve recruitment of minority participants. The investigators decided to conduct research into minority recruitment, focusing on ways to enhance ethnic minority participation into the registry. The sites were charged with two goals: to iden","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 4","pages":"191-2"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000116877","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27388175","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":"Genetics and identity.","authors":"Anders Nordgren","doi":"10.1159/000121396","DOIUrl":"https://doi.org/10.1159/000121396","url":null,"abstract":"<p><p>For the last 20 years the concepts of identity and identification have been subject to much interest in the humanities and social sciences. However, the implications of genetics for identity and identification have been largely neglected. In this paper, I distinguish various conceptions of identity (as continuity over time, as basic kind of being, as unique set of properties, and as social role) and identification (as subjective experience of identity in various senses and as social ascription of identity in various senses), and investigate systematically genetic perspectives on each of these conceptions. I stress the importance of taking the genetic perspectives seriously but also their limitations. In particular, I pinpoint conceptual problems that arise when a genetic approach to identity is adopted.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 5","pages":"252-66"},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000121396","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27452516","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":"Barriers to access: results from focus groups to identify genetic service needs in the community.","authors":"Rosalyn Y Beene-Harris,&nbsp;Catharine Wang,&nbsp;Janice V Bach","doi":"10.1159/000096275","DOIUrl":"https://doi.org/10.1159/000096275","url":null,"abstract":"<p><strong>Objective: </strong>In efforts to prepare for implications of genomic advances, a needs assessment was undertaken from 2000 to 2002 by the Michigan Department of Community Health to develop a comprehensive state plan for genetic services. This paper reports on the access barriers to genetic services identified from focus groups conducted with members of the community and genetic service providers.</p><p><strong>Methods: </strong>Included in this study were the following five target groups: a sickle cell anemia parent support group, a Native American student group, parents of children with birth defects or other special health care needs, adults with genetic conditions, and genetic service providers from the statewide genetic counselors' association. Discussions of all groups were audio taped, transcribed and analyzed using content analysis.</p><p><strong>Results: </strong>Individual barriers to access identified included lack of awareness of personal risk, lack of knowledge of genetic services and resources, and lack of trust/fear of discrimination. Institutional barriers to access identified included provider lack of knowledge and awareness of genetic services, lack of workforce, coordination of care, cost and insurance, and location from services.</p><p><strong>Conclusions: </strong>Barriers to access cut across overlapping dimensions and overcoming these barriers will require solutions that target multiple dimensions in order to be effective.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 1","pages":"10-8"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000096275","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26441817","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":"Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives.","authors":"C R Cecchin,&nbsp;A P Pires,&nbsp;C R Rieder,&nbsp;T L Monte,&nbsp;I Silveira,&nbsp;T Carvalho,&nbsp;M L Saraiva-Pereira,&nbsp;J Sequeiros,&nbsp;L B Jardim","doi":"10.1159/000096276","DOIUrl":"https://doi.org/10.1159/000096276","url":null,"abstract":"<p><strong>Objectives: </strong>It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation.</p><p><strong>Subjects and methods: </strong>Two hundred and forty-six individuals aged > or =18 years were studied: 79 MJD patients (group 1), 43 spouses of MJD patients (group 2), 80 individuals at risk for MJD (group 3), and a control group (group 4) composed of 44 patients with multiple sclerosis (MS). The following two tools were applied: the Beck Depression Inventory and the Barthel index of physical incapacitation, both in an adapted Brazilian Portuguese version.</p><p><strong>Results: </strong>Moderate to severe depressive scores were found in 33.5% of patients in the MJD families, in 16.3% of the spouses, and in 6.3% of the individuals at risk. This linear reduction between MJD family members was statistically significant (p < 0.0001, ANOVA). Depressive scores were also associated with age and the female sex. A direct correlation between Beck Depression Inventory scores and motor incapacitation was found in MJD patients (r = 0.507, Pearson correlation, p < 0.0001). Although the depressive symptoms in the control group with MS were higher than those found in MJD patients (59% of MS patients showed moderate to severe scores), depression did not correlate with physical incapacitation, age, or education attainment in the MS group.</p><p><strong>Conclusions: </strong>Depressive symptoms are rather common in MJD patients and in their spouses (caregivers). In this condition, depression seemed to be more reactive than primarily related to the disease process itself.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 1","pages":"19-26"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000096276","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26441818","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":"Provision of breast cancer risk information to women at the lower end of the familial risk spectrum.","authors":"Gozde Ozakinci,&nbsp;Gerry Humphris,&nbsp;Michael Steel","doi":"10.1159/000096281","DOIUrl":"https://doi.org/10.1159/000096281","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer family clinics provide risk information as one of their key functions. Many referrals to these clinics are 'low-risk' women.</p><p><strong>Objective: </strong>It was the aim of this study to report on the generic risk status letters and printed materials (in the form of leaflets) provided to this category of counselees by UK cancer genetics centres.</p><p><strong>Methods: </strong>A postal survey was conducted requesting information materials from genetic centres.</p><p><strong>Results: </strong>Personalized risk letters and/or printed materials were received from 16 of 22 familial cancer centres in the UK. Personalized risk letters and printed materials currently provided to these counselees display inconsistencies and over-simplification that may lead to misunderstanding.</p><p><strong>Conclusion: </strong>There is a need for collaboration among cancer genetics centres to design more helpful and consistent literature.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 1","pages":"41-4"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000096281","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26498326","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":"Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis.","authors":"Susan A Treloar,&nbsp;Katherine I Morley,&nbsp;Sandra D Taylor,&nbsp;Wayne D Hall","doi":"10.1159/000099083","DOIUrl":"https://doi.org/10.1159/000099083","url":null,"abstract":"<p><strong>Objective: </strong>This exploratory, pilot study aimed to investigate motivations and reflections of participants who had provided epidemiological information, blood samples and access to clinical records and data in a large genetic epidemiological study of endometriosis, a common multifactorial disorder affecting women. We also aimed to explore understanding of complex genetic or multifactorial conditions in general.</p><p><strong>Methods: </strong>In-depth interviews were conducted with 16 endometriosis study participants with diverse characteristics.</p><p><strong>Results: </strong>Interviewees generally described their participation in the genetic study using altruistic frameworks of reference. Themes that emerged included unquestioning willingness and consent to participate, little concern about privacy issues, desire for more information from the researchers about the condition rather than scientific progress, the benefits of research participation to family communication, and differing ideas about genetic influences on endometriosis. Specific features of endometriosis also influenced reflections on research participation experience.</p><p><strong>Conclusions: </strong>As increasing numbers of individuals and families in the community become involved in genetic epidemiological studies of common diseases, more extensive research will be needed to better understand their expectations with a view to improving researchers' communications with study participants.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 2","pages":"61-71"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000099083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26621929","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":"Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba.","authors":"H M Paneque,&nbsp;A L Prieto,&nbsp;R R Reynaldo,&nbsp;M T Cruz,&nbsp;F N Santos,&nbsp;M L Almaguer,&nbsp;P L Velázquez,&nbsp;B L Heredero","doi":"10.1159/000101754","DOIUrl":"https://doi.org/10.1159/000101754","url":null,"abstract":"<p><strong>Objective: </strong>In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease.</p><p><strong>Subjects and methods: </strong>Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol. The participants had psychological evaluations before testing and 1 week after being informed of the result.</p><p><strong>Results: </strong>The average age of the participants in the presymptomatic testing for SCA2 was 39.3 years, 62% were female. The main reasons for taking the test were family planning and risk assessment in their children. Family participation in the process was high and there were several additional sources of social support. Before the test, the subjects did not present high levels of anxiety or depression. On informing the patients of the test results indicators for anxiety and depression significantly decreased, and there were no significant differences according to whether the test result had been positive or negative. Catastrophic events were rare during the first week after the test.</p><p><strong>Conclusions: </strong>The results indicate a strong interest in presymptomatic diagnosis among individuals at risk for SCA2 in Holguín and a lack of significant psychological drawbacks up to 1 week after information of results.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 3","pages":"132-9"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000101754","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26781719","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 counselling for familial conditions during pregnancy: a review of the literature published during the years 1989-2004.","authors":"C M Aalfs,&nbsp;E M A Smets,&nbsp;N J Leschot","doi":"10.1159/000101757","DOIUrl":"https://doi.org/10.1159/000101757","url":null,"abstract":"<p><strong>Background: </strong>Genetic counselling for familial conditions during pregnancy may have some disadvantages, such as time pressure and induced worry. However, little is known about the reasons for and consequences of this timing of genetic counselling.</p><p><strong>Objective: </strong>The objective of this study was to provide an overview of research aimed at the counselee's reasons for seeking genetic counselling during pregnancy and the medical-technical and procedural consequences thereof.</p><p><strong>Methods: </strong>We searched the databases Medline and PsycINFO for primary research papers, reviews and case reports, published from 1989 to June 2004.</p><p><strong>Results: </strong>No papers could be retrieved which explicitly addressed our research questions. However, 34 papers, out of a total of 399 papers, covered issues with some relevance to our research questions. Limited knowledge and alertness towards genetics and a greater apparent relevance of genetic issues during pregnancy seemed to explain, at least partly, the timing of referral during pregnancy. Literature on the consequences of this timing for the quality of the genetic counselling process appeared to be scarce. These consequences, therefore, remain unclear.</p><p><strong>Conclusion: </strong>In the literature, little attention is paid to the various aspects of the timing of genetic counselling for familial conditions during pregnancy. More research on this issue is important, with a view to improving the care of pregnant women and their children.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"10 3","pages":"159-68"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000101757","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26783323","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}