Public Health Genomics最新文献

{"title":"Genetic and Nongenetic Determinants of Variable Warfarin Dose Requirements: A Report from North India.","authors":"Navjot Kaur, Avaneesh Pandey, Nusrat Shafiq, Ankur Gupta, Reena Das, Harkant Singh, Jasmina Ahluwalia, Samir Malhotra","doi":"10.1159/000519462","DOIUrl":"10.1159/000519462","url":null,"abstract":"<p><strong>Introduction: </strong>Warfarin is widely used and will continue to be prescribed especially in developing countries due to its low cost. Given the huge patient load requiring anticoagulation, there is a need to develop strategies to optimize warfarin therapy for ensuring safe and effective anticoagulation. In the present work, we aimed at elucidating the association of genetic and nongenetic variables with warfarin dose requirement in patients attending the cardiovascular clinic in a tertiary care center of North India.</p><p><strong>Methods: </strong>This was a prospective study conducted over 1 year. Patient demographic and clinical details were captured in customized case record forms. Genotyping was done using the polymerase chain reaction-restriction fragment length polymorphism method. Pharmacogenetic influence of CYP2C9 (rs1799853 and rs1057910) and VKORC1 (rs9923231) variant alleles was studied. The association of genetic and nongenetic factors with warfarin dose was quantified using a stepwise multivariate linear regression model.</p><p><strong>Results: </strong>Two hundred and forty patients were screened. Data from 82 eligible patients were used for quantifying the association of genetic and nongenetic factors with warfarin dose. A descriptive model based on CYP2C9*3 (rs1057910) and VKORC1 (rs9923231) variant alleles and BMI was developed. The model explains nearly half of the interindividual variation in warfarin dose requirement.</p><p><strong>Conclusion: </strong>The model explains nearly half of the interindividual variation in warfarin dose in patients with atrial fibrillation and or requiring valve replacement.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2021-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561278","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":"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":"The Perception of Premarital Genetic Screening within Young Jordanian Individuals.","authors":"Zaid Altaany,&nbsp;Omar F Khabour,&nbsp;Karem H Alzoubi,&nbsp;Almuthanna K Alkaraki,&nbsp;Ghaith Al-Taani","doi":"10.1159/000517162","DOIUrl":"https://doi.org/10.1159/000517162","url":null,"abstract":"<p><strong>Background: </strong>During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion, and practice of young Jordanians concerning PGS.</p><p><strong>Methods: </strong>Using a pretested questionnaire, this cross-sectional study was conducted on a convenience sample from Jordan. The measures included respondents' demographics, and beliefs/opinions regarding PGS.</p><p><strong>Results: </strong>A total of 432 participants completed the survey. The majority (87.8%) had a positive attitude toward PGS program. Reasons behind this positive attitude were preventing transmission of genetic diseases, reducing family breakdown/psychosocial problems, and financial burdens of having a child with genetic disease. In fact, 49.8% of participants were willing to change their marriage decision in case of receiving incompatible results. Moreover, most of the participants (75.1%) demanded the implementation of a law that prohibits incompatible marriages. A positive attitude toward PGS was found to be associated with female gender and having a university education.</p><p><strong>Conclusions: </strong>Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 3-4","pages":"182-188"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000517162","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10825510","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":"Teenagers and Precision Psychiatry: A Window of Opportunity.","authors":"Maya Sabatello,&nbsp;Ying Chen,&nbsp;Carmen Fiorella Herrera,&nbsp;Erika Brockhoff,&nbsp;Jehannine Austin,&nbsp;Paul S Appelbaum","doi":"10.1159/000512475","DOIUrl":"https://doi.org/10.1159/000512475","url":null,"abstract":"<p><strong>Objective: </strong>Precision medicine raises hope for translating genetic-based knowledge about psychiatric risks into mental health benefits by motivating health-related, risk-reducing behaviors. Teenagers (ages 14-17) are an important age-group to engage in preventive efforts but, their views about psychiatric genetics are understudied.</p><p><strong>Method: </strong>An online survey with a nationally representative sample of teenagers (n = 417) was conducted. Participants were randomly assigned to receive 1 of 2 handouts, 1 emphasizing the genetic underpinnings of psychiatric conditions; the other agency-oriented and focusing on gene-environment interactions. Survey questions queried their views about behavioral changes in response to psychiatric genetic risk information and expressed willingness to undertake them. Participants' decision-making characteristics (i.e., self-efficacy, empowerment, intolerance of uncertainty, and sensation-seeking) were assessed at baseline.</p><p><strong>Results: </strong>Teenagers strongly valued the information provided and its potential usefulness for their mental health. Information about psychiatric genetics alone impacted views about the causes of mental illness. Contrary to our hypothesis, the type of handout did not impact participants' expressed willingness to make behavioral changes to reduce their risk of developing a psychiatric condition, but their sense of empowerment played a key role in their responses.</p><p><strong>Conclusion: </strong>Educating teenagers about gene-environment interactions may help facilitate the translational efforts of precision psychiatry. Research with teenagers across racial/ethnic groups, especially those with family histories, is needed to better understand the factors that impact teenagers' empowerment in psychiatric genomic settings and to identify measures, including the best enablers of empowerment (e.g., educators, parents), which would allow them to reap the benefits of precision psychiatry.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 1-2","pages":"14-25"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512475","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10343590","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":"Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day.","authors":"Seda Susgun,&nbsp;Koray Kasan,&nbsp;Emrah Yucesan","doi":"10.1159/000517102","DOIUrl":"https://doi.org/10.1159/000517102","url":null,"abstract":"<p><strong>Background: </strong>In the context of medical genetics, gene hunting is the process of identifying and functionally characterizing genes or genetic variations that contribute to disease phenotypes. In this review, we would like to summarize gene hunting process in terms of historical aspects from Darwin to now. For this purpose, different approaches and recent developments will be detailed.</p><p><strong>Summary: </strong>Linkage analysis and association studies are the most common methods in use for explaining the genetic background of hereditary diseases and disorders. Although linkage analysis is a relatively old approach, it is still a powerful method to detect disease-causing rare variants using family-based data, particularly for consanguineous marriages. As is known that, consanguineous marriages or endogamy poses a social problem in developing countries, however, this same condition also provides a unique opportunity for scientists to identify and characterize pathogenic variants. The rapid advancements in sequencing technologies and their parallel implementation together with linkage analyses now allow us to identify the candidate variants related to diseases in a relatively short time. Furthermore, we can now go one step further and functionally characterize the causative variant through in vitro and in vivo studies and unveil the variant-phenotype relationships on a molecular level more robustly. Key Messages: Herein, we suggest that the combined analysis of linkage and exome analysis is a powerful and precise tool to diagnose clinically rare and recessively inherited conditions.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 5-6","pages":"207-217"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000517102","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10753181","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":"L. Mazzarella, Colleen M. McBride","doi":"10.1159/000511663","DOIUrl":"https://doi.org/10.1159/000511663","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46850906","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":"Colleen M. McBride","doi":"10.1159/000509097","DOIUrl":"https://doi.org/10.1159/000509097","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43284555","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":"Publisher's Note","authors":"","doi":"10.1159/000508570","DOIUrl":"https://doi.org/10.1159/000508570","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1","pages":"1 - 1"},"PeriodicalIF":1.7,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508570","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45660444","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}