Public Health Genomics最新文献

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SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review. DNA甲基化、转录因子结合和miRNA靶点位点的snp导致等位基因特异性基因表达并导致复杂疾病风险:系统综述
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-09-23 DOI: 10.1159/000510253
Manik Vohra, Anu Radha Sharma, Navya Prabhu B, Padmalatha S Rai
{"title":"SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review.","authors":"Manik Vohra,&nbsp;Anu Radha Sharma,&nbsp;Navya Prabhu B,&nbsp;Padmalatha S Rai","doi":"10.1159/000510253","DOIUrl":"https://doi.org/10.1159/000510253","url":null,"abstract":"<p><strong>Introduction: </strong>The complex genetic diversity among human populations results from an assortment of factors acting at various sequential levels, including mutations, population migrations, genetic drift, and selection. Although there are a plethora of DNA sequence variations identified through genome-wide association studies (GWAS), the challenge remains to explain the mechanisms underlying interindividual phenotypic disparity accounting for disease susceptibility. Single nucleotide polymorphisms (SNPs) present in the sites for DNA methylation, transcription factor (TF) binding, or miRNA targets can alter the gene expression. The systematic review aimed to evaluate the complex crosstalk among SNPs, miRNAs, DNA methylation, and TFs for complex multifactorial disease risk.</p><p><strong>Methods: </strong>PubMed and Scopus databases were used from inception until May 15, 2019. Initially, screening of articles involved studies assessing the interaction of SNPs with TFs, DNA methylation, or miRNAs resulting in allele-specific gene expression in complex multifactorial diseases. We also included the studies which provided experimental validation of the interaction of SNPs with each of these factors. The results from various studies on multifactorial diseases were assessed.</p><p><strong>Results: </strong>A total of 11 articles for SNPs interacting with DNA methylation, 30 articles for SNPs interacting with TFs, and 11 articles for SNPs in miRNA binding sites were selected. The interactions of SNPs with epigenetic factors were found to be implicated in different types of cancers, autoimmune diseases, cardiovascular diseases, diabetes, and asthma.</p><p><strong>Conclusion: </strong>The systematic review provides evidence for the interplay between genetic and epigenetic risk factors through allele-specific gene expression in various complex multifactorial diseases.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"155-170"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000510253","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38413982","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}
引用次数: 19
Misinterpretation of Hereditary Breast Cancer Risk and Its Association with Information Sharing Motives among Women at Low Likelihood of Carrying a BRCA1/2 Mutation. 低概率携带 BRCA1/2 基因突变的女性对遗传性乳腺癌风险的误解及其与信息分享动机的关联。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-10-27 DOI: 10.1159/000511131
Jingsong Zhao, Colleen M McBride, Yue Guan
{"title":"Misinterpretation of Hereditary Breast Cancer Risk and Its Association with Information Sharing Motives among Women at Low Likelihood of Carrying a BRCA1/2 Mutation.","authors":"Jingsong Zhao, Colleen M McBride, Yue Guan","doi":"10.1159/000511131","DOIUrl":"10.1159/000511131","url":null,"abstract":"<p><strong>Purpose: </strong>In this brief report, we ask whether women's interpretation of breast cancer risk based on their low likelihood of carrying a BRCA1/2 mutation is associated with their information-sharing behavior, and whether misinterpretation is associated with motives for sharing the result.</p><p><strong>Methods: </strong>Women in mammography clinics who completed a brief family history assessment and deemed to be at low likelihood of carrying a BRCA1/2 mutation were asked to complete a 1-time online survey between June 2016 and January 2017.</p><p><strong>Results: </strong>One-third (44/148) of women shared their family history screen result with someone in their social network. Result information was shared largely with a first-degree female relative to express feelings of relief (77%, 33/43). There were no differences in likelihood of sharing based on breast cancer risk interpretation. However, women who misinterpreted the implications of the result for general breast cancer risk reported more motives to share the result with their social network than those who accurately interpreted their breast cancer risk.</p><p><strong>Conclusions: </strong>As family history-based screening for hereditary breast cancer is broadly implemented, the communication needs of the majority of women who will be unlikely of carrying a BRCA1/2 mutation must be considered. The motives of women who misinterpreted the implications of this result for breast cancer risk suggest the possibility that miscommunication could be spread to the broader family network.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"252-256"},"PeriodicalIF":1.3,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38636140","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}
引用次数: 0
In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research. 不同的声音:残疾人对精准医学研究成果回归的看法。
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-04-15 DOI: 10.1159/000506599
Maya Sabatello, Yuan Zhang, Ying Chen, Paul S Appelbaum
{"title":"In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.","authors":"Maya Sabatello,&nbsp;Yuan Zhang,&nbsp;Ying Chen,&nbsp;Paul S Appelbaum","doi":"10.1159/000506599","DOIUrl":"https://doi.org/10.1159/000506599","url":null,"abstract":"<p><strong>Purpose: </strong>Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, especially among people from historically marginalized communities who are commonly underrepresented in research. However, research participants' interest in receiving nongenomic medical and nonmedical results that may emerge from precision medicine research (PMR) is understudied and no study to date has explored the views of people with disabilities about return of genomic and nongenomic results from PMR.</p><p><strong>Methods: </strong>In a national online survey of people with disabilities, participants were queried about their interest in receiving biological, environmental, and lifestyle results from PMR (n = 1,294). Analyses describe findings for all of the participants and comparisons for key demographic characteristics and disability subgroups.</p><p><strong>Results: </strong>The participants expressed high interest in biological and health-related results and less interest in other findings. However, the interest among the study participants was lower than that found in comparable studies of the general population. Moreover, this interest varied significantly across gender, race/ethnicity, and disability subgroups. Possible reasons for these differences are discussed.</p><p><strong>Conclusion: </strong>Insofar as return of results from PMR may impact translational efforts, it is important to better understand the role of sociomedical marginalization in decisions about return of results from PMR and to develop strategies to address existing barriers.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1-2","pages":"42-53"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000506599","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37839166","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}
引用次数: 16
CYP24A1 rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System. CYP24A1 rs1570669变异对泌尿系统肿瘤具有保护作用
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-10-28 DOI: 10.1159/000509190
Yao Sun, Xiang Wang, Jiamin Wu, Zichao Xiong, Haiyue Li, Yuanwei Liu, Jianfeng Liu, Yipeng Ding, Tianbo Jin
{"title":"CYP24A1 rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System.","authors":"Yao Sun,&nbsp;Xiang Wang,&nbsp;Jiamin Wu,&nbsp;Zichao Xiong,&nbsp;Haiyue Li,&nbsp;Yuanwei Liu,&nbsp;Jianfeng Liu,&nbsp;Yipeng Ding,&nbsp;Tianbo Jin","doi":"10.1159/000509190","DOIUrl":"https://doi.org/10.1159/000509190","url":null,"abstract":"<p><strong>Background: </strong>Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors.</p><p><strong>Materials and methods: </strong>rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer.</p><p><strong>Results: </strong>Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012).</p><p><strong>Conclusions: </strong>CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"200-209"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509190","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38536446","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}
引用次数: 0
Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia. 遗传学相关活动在斯洛文尼亚家庭医生的日常实践。
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-11-23 DOI: 10.1159/000511561
Metka Cerovic, Borut Peterlin, Zalika Klemenc-Ketis
{"title":"Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia.","authors":"Metka Cerovic,&nbsp;Borut Peterlin,&nbsp;Zalika Klemenc-Ketis","doi":"10.1159/000511561","DOIUrl":"https://doi.org/10.1159/000511561","url":null,"abstract":"<p><strong>Introduction: </strong>Development of genomic technologies has an important impact on patient management in medicine. Nevertheless, translation of new advances of genomic medicine in primary care is challenging and needs to be adapted to the needs of health systems.</p><p><strong>Objective: </strong>The objective of this study was to analyze the current state of the use and the level of confidence in genetic management activities in everyday clinical practice of family practitioners (FPs) in Slovenia.</p><p><strong>Methods: </strong>We used a cross-sectional observational study design. The dataset was obtained through a questionnaire containing demographics, questions about the use of genetics in everyday practice, and a scale for measuring the responders' confidence in their ability to carry out basic genetic activities during patient treatment. The questionnaire was sent by regular mail to every FP in Slovenia (N = 950).</p><p><strong>Results: </strong>The questionnaire was completed by a total of 271 physicians (response rate 28.5%), with an average physicians' age of 45.5 ± 10.6 years. In their everyday clinical practice, the majority of Slovenian FPs report to encounter genetic conditions more than once a month (241, 91.2%). Family medical history is the most commonly used among all activities related to genetic management of patients. Only 5.9% of Slovenian FPs are confident in their ability to carry out basic activities related to genetic patient management. Most of them believe they are only competent enough to obtain family medical history and identify a positive family history. The FPs who reported a lower degree of confidence are those with the lowest level of education in the field of medical genetics and older physicians (age >50 years).</p><p><strong>Conclusions: </strong>Slovenian family physicians commonly encounter patients with genetic conditions but are not confident in their ability to carry out basic medical genetic tasks. Therefore, additional education is necessary.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"230-236"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511561","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38637496","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}
引用次数: 1
Association between SIRT6 Methylation and Human Longevity in a Chinese Population. 中国人群中SIRT6甲基化与人类寿命的关系
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-11-25 DOI: 10.1159/000508832
Xu Tang, Yi Wei, Jian Wang, Shiyi Chen, Jiansheng Cai, Jiexia Tang, Xia Xu, Bingshuang Long, Guoqi Yu, Zhiyong Zhang, Min He, Jian Qin
{"title":"Association between SIRT6 Methylation and Human Longevity in a Chinese Population.","authors":"Xu Tang,&nbsp;Yi Wei,&nbsp;Jian Wang,&nbsp;Shiyi Chen,&nbsp;Jiansheng Cai,&nbsp;Jiexia Tang,&nbsp;Xia Xu,&nbsp;Bingshuang Long,&nbsp;Guoqi Yu,&nbsp;Zhiyong Zhang,&nbsp;Min He,&nbsp;Jian Qin","doi":"10.1159/000508832","DOIUrl":"https://doi.org/10.1159/000508832","url":null,"abstract":"<p><strong>Background: </strong>Sirtuin 6 gene (SIRT6) is a longevity gene that is involved in a variety of metabolic pathways, but the relationship between SIRT6 methylation and longevity has not been clarified.</p><p><strong>Methods: </strong>We conducted a case-control study on 129 residents with a family history of longevity (1 of parents, themselves, or siblings aged ≥90 years) and 86 individuals without a family history of exceptional longevity to identify the association. DNA pyrosequencing was performed to analyze the methylation status of SIRT6 promoter CpG sites. qRT-PCR and ELISA were used to estimate the SIRT6 messenger RNA (mRNA) levels and protein content. Six CpG sites (P1-P6) were identified as methylation variable positions in the SIRT6 promoter region.</p><p><strong>Results: </strong>At the P2 and P5 CpG sites, the methylation rates of the longevity group were lower than those of the control group (p < 0.001 and p = 0.009), which might be independent determinants of longevity. The mRNA and protein levels of SIRT6 decreased in the control group (p < 0.0001 and p = 0.038). The mRNA level negatively correlated with the methylation rates at the P2 (rs = -0.173, p = 0.011) and P5 sites (rs = -0.207, p = 0.002). Furthermore, the protein content positively correlated with the methylation rate at the P5 site (rs = 0.136, p = 0.046) but showed no significant correlation with the methylation rate at the P2 site.</p><p><strong>Conclusion: </strong>The low level of SIRT6 methylation may be a potential protective factor of Chinese longevity.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"190-199"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508832","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38739414","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}
引用次数: 3
Assessing the Intention to Provide Human Genetic Resources: An Explanatory Model. 评估提供人类遗传资源的意愿:一个解释模型。
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-07-17 DOI: 10.1159/000509191
Qin Qin, Youhai Sun
{"title":"Assessing the Intention to Provide Human Genetic Resources: An Explanatory Model.","authors":"Qin Qin,&nbsp;Youhai Sun","doi":"10.1159/000509191","DOIUrl":"https://doi.org/10.1159/000509191","url":null,"abstract":"<p><strong>Background: </strong>Human genetic resources are an important material component for life science research and have strategic significance for medical science and technological innovation. In this study, we employ frameworks from social psychology and the science of human behavior to study human genetic resource providers.</p><p><strong>Aims: </strong>We used structural equation techniques to explain factors affecting the intention to provide human genetic resources and the mechanisms for providing such resources.</p><p><strong>Methods: </strong>We conducted an online survey with respondents from ethnic minorities (n = 912). Our model integrates key variables informed by the theory of planned behavior (TPB), the theory of benefit and risk assessment (BRA), as well as variables that represent the policy and political system.</p><p><strong>Results: </strong>Our results show that the factors affecting the intention to provide human genetic resources, ranked from highly influential to less influential, are perceived benefits, privacy risk, attitudes toward providing human genetic resources, perceived behavioral efficacy, psychological risk, subjective norms, and physical risk. The variables informed by the TPB all have a significant positive effect on the intention to provide human genetic resources. With the exception of physical risk, the variables informed by the theory of BRA have a significant effect on the intention to provide human genetic resources. Respondents with different health conditions have significantly different levels of physical risk.</p><p><strong>Conclusions: </strong>The results of our study provide insights into how to improve people's intention to provide human genetic resources. We also proposed ways to protect such resources globally.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 3-4","pages":"133-148"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509191","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38167883","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}
引用次数: 0
Higher Odds of Type 2 Diabetes for Some Blood Groups. 某些血型的人患2型糖尿病的几率更高。
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-04-06 DOI: 10.1159/000506294
Jafar Navabi, Seyed Mohammad Navabi, Niloufar Hemmati, Zahra Shaahmadi, Abbas Aghaei
{"title":"Higher Odds of Type 2 Diabetes for Some Blood Groups.","authors":"Jafar Navabi,&nbsp;Seyed Mohammad Navabi,&nbsp;Niloufar Hemmati,&nbsp;Zahra Shaahmadi,&nbsp;Abbas Aghaei","doi":"10.1159/000506294","DOIUrl":"https://doi.org/10.1159/000506294","url":null,"abstract":"<p><strong>Background: </strong>Diabetes is one of the most common metabolic diseases in humans that cause disruption in glucose and fat metabolism. The determination of the ABO blood group system is hereditary and both diabetes and blood groups have a genetic basis.</p><p><strong>Objectives: </strong>The aim of this study was to investigate the odds of type 2 diabetes for some blood groups.</p><p><strong>Methods: </strong>This case-control study was conducted in hospitals of Kermanshah in 2018. The case group consisted of patients with diabetes admitted to hospital and the control group of nondiabetic patients hospitalized in the surgical ward. Information such as age, sex, BMI, family history of diabetes and blood group is collected and analyzed by the univariate and multivariate logistic regression method.</p><p><strong>Results: </strong>A total of 750 patients were enrolled in this study. The number of participants in both groups was 375. The average ages of the participants were 50.51 and 51.62 years, respectively. 67.5% of the patients in the case group were female in comparison with 73.6% of those in the control group. The value of Rh+ in the case and control groups was 94.4 and 93.6%, respectively (p = 0.645). The chance of having diabetes for patients with blood group A was 76% higher than for those with blood group O (p = 0.006).</p><p><strong>Conclusion: </strong>According to the results of this study, the odds of type 2 diabetes for people in blood group A was higher than for those in other blood groups. It is recommended that blood group A be considered as a risk factor in the screening of type 2 diabetes.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1-2","pages":"37-41"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000506294","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37806306","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}
引用次数: 2
Understanding of Inheritance and Genetic Variation Assessed through the Use of an Engaging Real-Life Survey. 通过使用引人入胜的现实生活调查评估遗传和遗传变异的理解。
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-12-08 DOI: 10.1159/000512086
Elshaddai Ephrem, Erica Gleason, Kelly Maurer, Kathleen E Sullivan
{"title":"Understanding of Inheritance and Genetic Variation Assessed through the Use of an Engaging Real-Life Survey.","authors":"Elshaddai Ephrem,&nbsp;Erica Gleason,&nbsp;Kelly Maurer,&nbsp;Kathleen E Sullivan","doi":"10.1159/000512086","DOIUrl":"https://doi.org/10.1159/000512086","url":null,"abstract":"<p><strong>Aims: </strong>This study was undertaken to examine how a layperson is likely to interpret genetic information delivered in a clinical setting.</p><p><strong>Methods: </strong>A novel survey was designed to engage the reader in a simulated discussion of heritability as it might relate to human disease. The survey took approximately 5 min to administer. 307 individuals of different backgrounds completed the survey in the outpatient waiting room on their cell phone.</p><p><strong>Results: </strong>Overall, basic knowledge of inheritance and the concepts of heredity scored very well in the study cohort. Both knowledge and interpretation questions were answered correctly more often than not. There was generally no association between the scores on survey and gender or age.</p><p><strong>Conclusions: </strong>People recognize the basic concepts of heritability but struggle with real-life interpretations and more nuanced concepts of heredity.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"246-251"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38698244","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}
引用次数: 0
A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care? 结直肠癌风险的基因组检测:在初级保健中可接受和可行吗?
IF 1.7 4区 医学
Public Health Genomics Pub Date : 2020-01-01 Epub Date: 2020-07-20 DOI: 10.1159/000508963
Sibel Saya, Jennifer G McIntosh, Ingrid M Winship, Mark Clendenning, Shakira Milton, Jasmeen Oberoi, James G Dowty, Daniel D Buchanan, Mark A Jenkins, Jon D Emery
{"title":"A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?","authors":"Sibel Saya,&nbsp;Jennifer G McIntosh,&nbsp;Ingrid M Winship,&nbsp;Mark Clendenning,&nbsp;Shakira Milton,&nbsp;Jasmeen Oberoi,&nbsp;James G Dowty,&nbsp;Daniel D Buchanan,&nbsp;Mark A Jenkins,&nbsp;Jon D Emery","doi":"10.1159/000508963","DOIUrl":"https://doi.org/10.1159/000508963","url":null,"abstract":"<p><strong>Introduction: </strong>Genomic tests can predict risk and tailor screening recommendations for colorectal cancer (CRC). Primary care could be suitable for their widespread implementation.</p><p><strong>Objective: </strong>We aimed to assess the feasibility and acceptability of administering a CRC genomic test in primary care.</p><p><strong>Methods: </strong>Participants aged 45-74 years recruited from 4 Australian general practices were offered a genomic CRC risk test. Participants received brief verbal information about the test comprising 45 CRC-associated single-nucleotide polymorphisms, before choosing whether to undertake the test. Personalized risks were given to testers. Uptake and knowledge of the genomic test, cancer-specific anxiety (Cancer Worry Scale), psychosocial impact (Multidimensional Impact of Cancer Risk Assessment [MICRA] score), and impact on CRC screening behaviour within 6 months were measured.</p><p><strong>Results: </strong>In 150 participants, test uptake was high (126, 84%), with 125 (83%) having good knowledge of the genomic test. Moderate risk participants were impacted more by the test (MICRA mean: 15.9) than average risk participants (mean: 9.5, difference in means: 6.4, 95% confidence interval (CI): 1.5, 11.2, p = 0.01), but all scores were low. Average risk participants' cancer-specific anxiety decreased (mean differences from baseline: 1 month -0.5, 95% CI: -1.0, -0.1, p = 0.03; 6 months -0.6, 95% CI: -1.0, -0.2, p = 0.01). We found limited evidence for genomic testers being more likely to complete the risk-appropriate CRC screening than non-testers (41 vs. 17%, odds ratio = 3.4, 95% CI: 0.6, 34.8, p = 0.19), but some mediators of screening behaviour were altered in genomic testers.</p><p><strong>Conclusions: </strong>Genomic testing for CRC risk in primary care is acceptable and likely feasible. Further development of the risk assessment intervention could strengthen the impact on screening behaviour.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 3-4","pages":"110-121"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508963","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38171712","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}
引用次数: 11
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