Public Health Genomics最新文献

{"title":"Experiences of Latino Participants Receiving Neutral Genomic Screening Results: A Qualitative Study.","authors":"Amal W Cheema, Erica J Sutton, Annika T Beck, Idali Cuellar, Giovanna G Moreno Garzon, Valentina Hernandez, Noralane M Lindor, Gabriel Q Shaibi, Iftikhar J Kullo, Richard R Sharp","doi":"10.1159/000513219","DOIUrl":"10.1159/000513219","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the study was to characterize experiences of Latino participants receiving genomic screening results.</p><p><strong>Methods: </strong>Participants were recruited at a federally qualified health center in the USA. In-person, semi-structured interviews were conducted in either Spanish or English by a bilingual, bicultural interviewer. Questions focused on motivations for pursuing genomic sequencing, concerns about receiving genomic screening results, and perceived benefits of receiving genomic information. Interviews were audio-recorded, transcribed, and translated.</p><p><strong>Results: </strong>Fifty individuals completed an interview; 39 were conducted in Spanish. Participants described mixed motivations for pursuing genomic screening. Participants viewed the benefits of genomic screening in relation to not only their personal health but to the health of their families and their communities. Participants tended to have few concerns about genomic screening. Those concerns related to potential loss of privacy, misuses of genomic information, and the possibility of receiving distressing results. Some participants had misunderstandings about the scope of the test and the potential implications of their results. Most felt it was better to know about a genetic predisposition to disease than to remain uninformed. Participants felt that genomic screening was worthwhile.</p><p><strong>Discussion: </strong>This is one of the first studies to examine the experiences of Latino individuals receiving genomic screening results. Our results suggest that many Latino patients in the US see value in genomic screening and have limited concerns about its potential to cause harm. These results inform ongoing efforts to increase the availability of genomic medicine to underrepresented populations and add to our understanding of sociocultural drivers in the adoption of precision medicine.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 1-2","pages":"44-53"},"PeriodicalIF":1.7,"publicationDate":"2021-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291848/pdf/nihms-1910442.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10057169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contents Vol. 23, 2020","authors":"F. Paccaud, P. Pelicci, B. Peterlin, C. Pisanu","doi":"10.1159/000514151","DOIUrl":"https://doi.org/10.1159/000514151","url":null,"abstract":"Basel • Freiburg • Hartford • Oxford • Bangkok • Dubai • Kuala Lumpur • Melbourne • Mexico City • Moscow • New Delhi • Paris • Shanghai • Tokyo Founded 1998 as “Community Genetics” by Leo ten Kate (1998–2008) Continued by B.M. Knoppers (2009–2011), M. Gwinn (2012–2013), A. Brand (2009–2017) and N. Probst-Hensch (2018–2019) as “Public Health Genomics”. Official Journal of the Genomic Medicine Alliance (GMA)","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1","pages":"I - IV"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000514151","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44921412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"J. Goldsack, D. Karlin, Camille Nebeker, Erik Perakslis, N. Zimmerman","doi":"10.1159/000514515","DOIUrl":"https://doi.org/10.1159/000514515","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"1 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46081692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Variation of Glutathione S-Transferase M1 Is Associated with Patients with Ovarian Endometriosis and Endometriosis-Related Primary Infertility.","authors":"Hai-Bo Zhang,&nbsp;Yan Li,&nbsp;Jian-Lei Wu,&nbsp;Jian Zhao,&nbsp;Yun-Jie Tian,&nbsp;Shan Kang","doi":"10.1159/000517266","DOIUrl":"https://doi.org/10.1159/000517266","url":null,"abstract":"<p><strong>Background: </strong>The aim of the study was to investigate the role of the genetic variation of glutathione S-transferase M1 (GSTM1) in the development of ovarian endometriosis and endometriosis-related primary infertility risk.</p><p><strong>Methods: </strong>This case-control study included 564 women with ovarian endometriosis and 576 normal women in the control group in northern China. The polymorphism of GSTM1 was genotyped by polymerase chain reaction (PCR)/ligase detection reaction method. To assess the biological significance of polymorphisms, the level of GSTM1 mRNA expression in patients' endometrial tissues with different genotypes was detected by quantitative real-time PCR (qRT-PCR).</p><p><strong>Results: </strong>Compared with the positive genotype, the null genotype of GSTM1 was associated with the risk of developing ovarian endometriosis (OR = 1.29, 95% CI = 1.02-1.62). Further analysis showed that patients with a null genotype also had a significantly higher risk of primary infertility than patients with positive genotypes (OR = 1.59, 95% CI = 1.01-2.49). In addition, we found that GSTM1 mRNA expression was present in the endometrial tissue of all patients, but the expression level of patients with a positive genotype was nearly 10 times higher than that of patients with a negative genotype.</p><p><strong>Conclusion: </strong>Our results suggest that the GSTM1 polymorphism is not only related to the genetic susceptibility to ovarian endometriosis but also a potential molecular marker of primary infertility in patients with ovarian endometriosis.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"261-266"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39304248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing Discussion of Cancer Genetic Testing with Health-Care Providers in a Population-Based Survey.","authors":"Sukh Makhnoon,&nbsp;Robert Yu,&nbsp;Sonia A Cunningham,&nbsp;Susan K Peterson,&nbsp;Sanjay Shete","doi":"10.1159/000515465","DOIUrl":"https://doi.org/10.1159/000515465","url":null,"abstract":"<p><strong>Introduction: </strong>Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors.</p><p><strong>Methods: </strong>A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population.</p><p><strong>Results: </strong>Overall, 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related to having a personal history of breast/ovarian/colon cancer (OR = 11.57, 95% CI = 5.34-25.03), personal history of other cancer (OR = 3.18, 95% CI = 1.69-5.97), and health information-seeking behaviors (OR = 1.73, 95% CI = 1.12-2.66). Surprisingly, respondents who believed that inherited predispositions in addition to other modifiable risk factors cause cancer were less likely to discuss genetic testing compared to those who did not believe that inherited cancer predispositions cause cancer (OR = 0.54, 95% CI = 0.36-0.79).</p><p><strong>Discussion: </strong>The high discussion rate may be attributed to increased public awareness of genetic testing and adoption of more inclusive clinical genetic testing guidelines. The findings suggest that efforts to increase public awareness of the utility of genetic testing on personalized cancer risk assessment and cancer prevention are needed.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"160-170"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515465","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38899523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethical Aspects of Genotype Disclosure: Perceptions of Participants in a Nutrigenetic Study in Finland.","authors":"Suchetana De,&nbsp;Maaria Tringham,&nbsp;Anu Hopia,&nbsp;Raija Tahvonen,&nbsp;Anna-Maija Pietilä,&nbsp;Kirsi Vähäkangas","doi":"10.1159/000512640","DOIUrl":"https://doi.org/10.1159/000512640","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study.</p><p><strong>Methods: </strong>A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a -total of 33 questions, which were divided into 4 categories - demographics, knowledge assessment, concerns related to participation, and opinions on disclosure of information. Majority of the participants (250 out of 281) of a nutrigenetic study, in which effect of disclosing APOE allele status on lifestyle changes was studied, completed the questionnaire online following the informed consent process. The responses from the knowledge assessment and the concern categories were transformed into knowledge and concern scales, respectively, and analysed by descriptive statistical methods. The statistical associations between the categorical variables were determined using χ2 test of independence. The relationship between the continuous variables was assessed using Pearson product-moment correlation coefficient and internal consistency of questions by Cronbach's alpha.</p><p><strong>Results: </strong>No correlation was observed between the level of education and knowledge scores. About 10% of the participants thought that the genetic predisposition would be stressful to them and their family members.</p><p><strong>Conclusions: </strong>Careful distribution of information before a nutrigenetic study supports understanding and reduces concerns of genetic susceptibility. In Finland, strong basic education is likely to have strengthened the trust in research process.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"33-43"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512640","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38852051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motivating and Discouraging Factors for Bipolar Patient Participation in Genomic Research.","authors":"Eric J Vallender,&nbsp;Mark E Ladner,&nbsp;Margaret O Akinhanmi,&nbsp;Felicia V Caples,&nbsp;Mark A Frye,&nbsp;Joyce E Balls-Berry","doi":"10.1159/000513723","DOIUrl":"https://doi.org/10.1159/000513723","url":null,"abstract":"<p><strong>Aims: </strong>The goal of this project was to better understand the motivating and discouraging factors toward genetic research and biobank programs in patients with bipolar disorder, particularly across gender and racial identities.</p><p><strong>Methods: </strong>A survey (n = 63) of adults diagnosed with bipolar disorder was conducted at the general psychiatric inpatient unit and outpatient clinic at the University of Mississippi Medical Center. Participants were asked to rate on a Likert scale their attitudes toward medical research generally, mental health research specifically, and willingness to participate in a bipolar DNA biobank. Last, they were asked to endorse motivating factors or concerns for their attitude toward participation.</p><p><strong>Results: </strong>Neither attitudes toward research nor willingness to participate in a bipolar biobank differed across gender, age, or education level, but Black/African American participants were statistically significantly less likely to endorse a willingness to participate in a biobank compared to White participants. As observed in previous work, Black/African American participants were significantly more likely to endorse concerns regarding violations of trust, privacy, or autonomy. However, while there were no significant differences in discouraging factors among individuals who indicated an opposition to participating in a biobank compared to those who indicated support, there was a significant decrease in support of motivating factors, including increasing knowledge, personal benefit, and duty to community, for those not interested in participating.</p><p><strong>Conclusions: </strong>Black/African American participants with bipolar disorder were more likely to express concerns about DNA and biobank research. But while race was a contributing factor to support or opposition to biobanking for bipolar disorder research, more salient was insufficient positive motivation. These results highlight the need to emphasize contemporary safeguards on DNA research and biobanking as an ethical duty and to identify the need for community-based educational interventions to promote a greater understanding of the positive benefits to motivate increased research participation.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"89-98"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513723","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25427034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stakeholders' Interest and Attitudes toward Genomic Medicine and Pharmacogenomics Implementation in the United Arab Emirates: A Qualitative Study.","authors":"Azhar T Rahma,&nbsp;Iffat Elbarazi,&nbsp;Bassam R Ali,&nbsp;George P Patrinos,&nbsp;Luai A Ahmed,&nbsp;Fatima Al-Maskari","doi":"10.1159/000513753","DOIUrl":"https://doi.org/10.1159/000513753","url":null,"abstract":"<p><strong>Background and aim: </strong>Mapping the power, interest, and stance of stakeholders is a cornerstone for genomic medicine implementation. In this study, we aimed at mapping the power/interest of various stakeholders in United Arab Emirates (UAE) and exploring their attitudes toward pressing health genomics aspects. The overarching aim of this study is to facilitate the construction of a road map for the full implementation of genomic medicine and pharmacogenomics in the UAE with potential applicability to many healthcare systems around the world.</p><p><strong>Methods: </strong>A qualitative approach using in-depth interview was employed. Heterogeneous stakeholders were identified by experts in the field. The analysis of the data was a hybrid of deductive and inductive approach using NVivo software for coding and analysis.</p><p><strong>Results: </strong>13 interviews were conducted. Following mapping the Mendelow's matrix, we categorized the stakeholders in UAE to promoter, latent, defender, and apathetic. Most of the interviewed stakeholders emphasized the clinical demand for genomic medicine in UAE. However, many of them were less inclined to articulate the need for pharmacogenomics at the moment. The majority of stakeholders in UAE were in favor of building infrastructure for better genetic services in the country. Stakeholder from an insurance sector had contradicting stance about the cost-effectiveness of genomic medicine; the majority were concerned with the legal and ethical aspects of genomic medicine and had an opposing stance on direct-to-consumer kits.</p><p><strong>Conclusions: </strong>Implementing the Mendelow's model will allow the systematic strategy for implementing genomic medicine in UAE. This can be achieved by engaging the key players (promoters and defenders) as well as engaging and satisfying the latent stakeholder.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"99-109"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513753","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25498234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Belgian DNA Debate: An Online Deliberative Platform on the Ethical, Legal, and Social Issues of Genomics.","authors":"Chloé Mayeur,&nbsp;Marlies Saelaert,&nbsp;Wannes Van Hoof","doi":"10.1159/000515356","DOIUrl":"https://doi.org/10.1159/000515356","url":null,"abstract":"<p><strong>Introduction: </strong>Genomics is increasingly being implemented in the society. To fully realise this implementation, citizens should be consulted about their perspectives on genomics and its associated ethical, legal, and social issues (ELSI) to enable them to co-create with experts a society-supported framework in genomics.</p><p><strong>Methods: </strong>A Belgian online DNA debate was organised, where 1,127 citizens contributed to its deliberative platform.</p><p><strong>Results: </strong>Contributors expressed a dual attitude towards the societal use of genomic information throughout 5 main themes. Firstly, contributors considered DNA to have a significant but nondeterministic impact on identity. The second theme describes how genomic information may guide people's behaviour but has unfavourable effects such as psychological distress. The third theme covers the tension between a genomics-based responsibility and the rejection of genetic discrimination. The fourth theme depicts how genomic information may be useful for the common good and society at large but how, nevertheless, it should be people's free choice to use this information. In the fifth theme, contributors expressed both willingness to share their data and caution towards the harm and abuses this may engender. Finally, contributors formulated some recommendations for the responsible implementation of genomics.</p><p><strong>Discussion and conclusion: </strong>The attitude of contributors towards the societal use of genomic information and its ELSI aligns with a soft precautionary approach, in which prudence and the weighing of different values should result in protective measures against potential risks and harms. Further societal implementation of genomics should include these values and concerns.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"149-159"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515356","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practices and Attitudes toward Returning Genomic Research Results to Low-Resource Research Participants.","authors":"Megan B Raymond, Kayla E Cooper, Lisa S Parker, Vence L Bonham","doi":"10.1159/000516782","DOIUrl":"10.1159/000516782","url":null,"abstract":"<p><strong>Introduction: </strong>Many research programs are challenged to accommodate low-resource research participants' (LRRP) ancillary care needs when returning genomic research results. We define LRRP as those who are low income, uninsured, underinsured, or facing barriers to act upon the results returned. This study evaluates current policies and practices surrounding return of results (RoR) to LRRP, as well as the attitudes of investigators toward providing ancillary care to LRRP.</p><p><strong>Methods: </strong>A semi-structured interview study was conducted with representatives of 35 genomic research programs nationwide. Eligible programs were returning, or planning to return, medically actionable genomic results to participants.</p><p><strong>Results: </strong>Three content categories emerged from this study, including: (1) RoR structures, (2) barriers to RoR to LRRP, and (3) solutions to meet community and LRRP needs. Three major structures of RoR emerged: (1) RoR Embedded in Clinical Care, (2) RoR Independent of Clinical Care, and (3) Reliance on Clinical Partnerships to Facilitate RoR. Inadequacy of program resources to address the needs of LRRP was commonly considered a significant obstacle. The attitudes and views of informants regarding responsibility to provide ancillary care for LRRP receiving genomic results were highly varied. Some informants believed that genomic sequencing and testing was not a priority for LRRP because of other pressing issues in their lives, such as housing and food insecurity. Research programs differ regarding whether clinical and social support for LRRP is considered within the purview of the research team. Some programs instituted accommodations for LRRP, including social work referral and insurance enrollment assistance.</p><p><strong>Conclusion: </strong>Support to access downstream treatment is not readily available for LRRP in many genomic research programs. Development of best practices and policies for managing RoR to LRRP is needed.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"241-252"},"PeriodicalIF":1.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8592386/pdf/nihms-1702520.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39154416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}