Public Health Genomics最新文献

{"title":"\"A Gift to My Family for Their Future\": Attitudes about Genetic Research Participation.","authors":"Sarah D Madrid, Erica Blum-Barnett, Amy A Lemke, Vivian Pan, Valerie Paolino, Elizabeth A McGlynn, Andrea N Burnett-Hartman","doi":"10.1159/000524462","DOIUrl":"10.1159/000524462","url":null,"abstract":"<p><strong>Background: </strong>Broad participation in genetic research is needed to promote equitable advances in disease treatment and prevention.</p><p><strong>Objectives: </strong>The objective of the study was to assess motivations for, and concerns about, genetic research participation.</p><p><strong>Methods: </strong>The Genetics in Research and Health Care Survey was sent in winter 2017-2018 to 57,331 adult Kaiser Permanente (KP) members from 7 US regions to assess attitudes about genetic testing in health care and research. The survey included an open-ended question on why members would or would not participate in genetic research. Open text responses to this question were coded in the qualitative analysis software Dedoose and analyzed using a thematic analysis approach. Code summaries were organized by major themes, subthemes, and exemplary quotes.</p><p><strong>Results: </strong>Of the 10,369 participants who completed the survey, 2,645 (25%) provided a comment describing reasons they would or would not participate in research involving genetic testing. Respondents who provided a text comment were 64% female, 49% non-Hispanic (NH) White, 17% Asian/Pacific Islander, 20% Hispanic, and 14% NH Black. The primary themes identified were (1) altruism; (2) decision-making and planning; (3) data use; and (4) data security. These major themes were consistent across each race and ethnic group.</p><p><strong>Conclusions: </strong>To promote broad participation in genetic research, it is important that recruitment materials address the primary motivators for genetic research participation, including altruism and the potential use of results for personal decision-making. Study materials should also address concerns about possible misuse of genetic information and fears over potential data breaches.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"25 1","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2022-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44602693","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":"A Case-Control Study of the Luteinizing Hormone Level in Luteinizing Hormone Receptor Gene (rs2293275) Polymorphism in Polycystic Ovarian Syndrome Females.","authors":"Manar Fayiz Atoum, Mai Mahamad Alajlouni, Foad Alzoughool","doi":"10.1159/000521971","DOIUrl":"10.1159/000521971","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder characterized by chronic anovulation, infertility, polycystic ovaries, and hyperandrogenic signs.</p><p><strong>Objective: </strong>The aim of this study was to determine the association of luteinizing hormone/chorionic gonadotropin hormone receptor LHCGR polymorphism (rs2293275) with oligomenorrhea, amenorrhea, hirsutism, acne, infertility, LH, LH/FSH ratio, and body mass index (BMI) among PCOS females.</p><p><strong>Methods: </strong>This genetic case-control study recruited 55 PCOS and 55 control females, diagnosed based on the Rotterdam criteria. LH and FSH were measured by the Roche cobas c 502 automated analyzer. Genotypic analysis was carried out using the polymerase chain reaction-restriction fragment length polymorphism and restriction endonuclease digestion.</p><p><strong>Results: </strong>BMI was higher for PCOS patients (28.5 ± 6.59) compared to controls (25.1 ± 5.77), and ovulatory dysfunction was seen among 90% of PCOS females. Oligomenorrhea was common in PCOS (73%), and hirsutism and acne were detected in PCOS (80% and 40%; respectively). LH ≥10 were recoded among 51%, while LH/FSH ≥1.5 was recorded among 33% PCOS females. There is a statistical difference between rs2293275 polymorphism in the AG genotype between PCOS patients and controls. PCOS patients have a significantly higher mean LH level compared to controls (8.36 ± 4.86 and 5.67 ± 2.51, respectively) and showed higher LH/FSH value (1.46 ± 0.81) compared to (0.87 ± 0.30) controls. GG and AG genotypes of LHCGR showed statistically significant higher LH (8.22 ± 4.11; 9.02 ± 3.87) and LH/FSH values (1.57 ± 0.56; 1.64 ± 0.89) compared to controls.</p><p><strong>Conclusion: </strong>LHCGR (rs2293275) GA and GG genetic variants could modulate the hormonal levels of PCOS LH levels and the LH/FSH ratio and associated with hirsutism, oligomenorrhea, BMI, and LH/FSH ratio as risk factors.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"25 1","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43998236","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":"Comparison of a Cancer Family History Collection and Risk Assessment Tool - ItRunsInMyFamily - with Risk Assessment by Health-Care Professionals.","authors":"Jordon B Ritchie, Brandon M Welch, Caitlin G Allen, Lewis J Frey, Heath Morrison, Joshua D Schiffman, Alexander V Alekseyenko, Brian Dean, Chanita Hughes Halbert, Cecelia Bellcross","doi":"10.1159/000520001","DOIUrl":"10.1159/000520001","url":null,"abstract":"<p><strong>Introduction: </strong>Primary care providers (PCPs) and oncologists lack time and training to appropriately identify patients at increased risk for hereditary cancer using family health history (FHx) and clinical practice guideline (CPG) criteria. We built a tool, \"ItRunsInMyFamily\" (ItRuns) that automates FHx collection and risk assessment using CPGs. The purpose of this study was to evaluate ItRuns by measuring the level of concordance in referral patterns for genetic counseling/testing (GC/GT) between the CPGs as applied by the tool and genetic counselors (GCs), in comparison to oncologists and PCPs. The extent to which non-GCs are discordant with CPGs is a gap that health information technology, such as ItRuns, can help close to facilitate the identification of individuals at risk for hereditary cancer.</p><p><strong>Methods: </strong>We curated 18 FHx cases and surveyed GCs and non-GCs (oncologists and PCPs) to assess concordance with ItRuns CPG criteria for referring patients for GC/GT. Percent agreement was used to describe concordance, and logistic regression to compare providers and the tool's concordance with CPG criteria.</p><p><strong>Results: </strong>GCs had the best overall concordance with the CPGs used in ItRuns at 82.2%, followed by oncologists with 66.0% and PCPs with 60.6%. GCs were significantly more likely to concur with CPGs (OR = 4.04, 95% CI = 3.35-4.89) than non-GCs. All providers had higher concordance with CPGs for FHx cases that met the criteria for genetic counseling/testing than for cases that did not.</p><p><strong>Discussion/conclusion: </strong>The risk assessment provided by ItRuns was highly concordant with that of GC's, particularly for at-risk individuals. The use of such technology-based tools improves efficiency and can lead to greater numbers of at-risk individuals accessing genetic counseling, testing, and mutation-based interventions to improve health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2021-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167897/pdf/nihms-1752753.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9579961","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":"Acknowledgement to Reviewers","authors":"","doi":"10.1159/000520204","DOIUrl":"https://doi.org/10.1159/000520204","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" 16","pages":"315 - 315"},"PeriodicalIF":1.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41255354","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 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}