Public Health Genomics最新文献

{"title":"Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice.","authors":"Juhi Salunke, Grace Byfield, Sabrina N Powell, Daniel F Torres, Grace Leon-Lozano, Jahnelle Jackson, Andreas K Orphanides, Jonathan Shaw, Thomas Owens, Jonathan S Berg, Elizabeth Branch, Lennin Caro, Stefanija Giric, Julianne M O'Daniel, Bradford C Powell, Ken Ray, Carla Robinson, Samantha Schilling, Nicole Shaw, Erin Song, Margaret Waltz, Megan C Roberts, Ann Katherine M Foreman, Kimberly Foss, Laura V Milko","doi":"10.1159/000543227","DOIUrl":"10.1159/000543227","url":null,"abstract":"<p><strong>Introduction: </strong>Unequal representation in genetic and genomic research is due to various factors including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresented populations, and lack of access to or awareness of research opportunities. Facilitating sustainable dialogue between diverse communities and genetic researchers can cultivate trusting, bidirectional relationships, potentially encouraging greater participation in research. Herein, we describe the co-creation of public health educational materials and dissemination plans using an approach designed to address inequities and foster community dialogue.</p><p><strong>Methods: </strong>In this Methods paper, we describe the iterative co-creation of Genetics and Genomics educational modules by genetics clinicians, researchers, and community members. The goal of these modules is to enhance genetic literacy of the lay population to facilitate informed decision-making regarding genetic research and health services. We used Designing for Dissemination and Sustainability, grounded in Dissemination and Implementation science, and its Fit to Context process framework to guide the process. This approach ensures that the public health context and writing for a diverse audience are considered throughout the modules' development.</p><p><strong>Conclusion: </strong>This article offers an evidence-based template for adoption or adaptation by other community-engaged groups, aimed at bolstering equity and sustainability in the development of health care interventions and with an emphasis on accessible public health literacy. The co-creation by researchers and community members of both materials and dissemination plans may improve the cultural appropriateness and relevance of public health genetics campaigns. Ongoing research is needed to assess the impact of this approach on receptiveness and participation.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"28 1","pages":"66-84"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11936475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721979","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":"Employee Perspectives on Genetic Testing in the Workplace: Results from a National Survey.","authors":"J Scott Roberts, Wendy R Uhlmann, Drew Blasco, Anya E R Prince, Sarah McCain, Subhamoy Pal, Kunal Sanghavi, Elizabeth Charnysh, Charles Lee","doi":"10.1159/000548116","DOIUrl":"10.1159/000548116","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic testing for health-related purposes is now offered in some workplace wellness programs, with notable ethical, legal, and social implications. However, little is known about employee perspectives on workplace genetic testing (wGT).</p><p><strong>Methods: </strong>We surveyed a large, diverse national sample of 2,000 employed adults (mean age = 43 years; 51% female). Survey measures assessed respondents' wGT beliefs, perceptions of employer motivations for offering wGT, and privacy concerns.</p><p><strong>Results: </strong>Most respondents (57.4%) agreed that wGT would improve employees' health, and 46.7% agreed it could aid recruitment and retention of employees. Many respondents attributed legally prohibited motivations to employers offering wGT, including charging employees higher insurance premiums based on wGT results (28.8% rated as very important to employers). Overall, 37% of respondents were not at all comfortable with their employer collecting their genetic information; in addition, most (83.6%) were somewhat or very concerned their employer would fail to protect the privacy of their genetic information or would share such information without permission (79.2%). Heightened privacy concerns were positively associated with employee characteristics, including age ≥55 years, self-identified Black or Asian race and ethnicity, and family history of common diseases, and inversely associated with prior genetic testing experience and employer trust.</p><p><strong>Conclusions: </strong>Employees perceive potential health benefits of wGT but harbor substantial privacy concerns and show limited awareness of legal protections against employer misuse of wGT results. Findings suggest a need for robust employee education and informed consent in wGT, along with safeguarding of sensitive personal genetic information.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"278-286"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12431634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034479","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":"Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.","authors":"Jacqueline A Odgis, Nicole R Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J Insel, Sabrina A Suckiel, Katherine E Bonini, Priya N Marathe, Miranda Di Biase, Kaitlyn Brown, Katie M Gallagher, Michelle A Ramos, Jessica E Rodriguez, Nicole Yelton, Karla López Aguiñiga, Michelle A Rodriguez, Estefany María, Jessenia Lopez, Randi E Zinberg, George A Diaz, John M Greally, Noura S Abul-Husn, Laurie J Bauman, Bruce D Gelb, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein","doi":"10.1159/000542444","DOIUrl":"10.1159/000542444","url":null,"abstract":"<p><strong>Introduction: </strong>Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the \"screen-sharing\" feature via Zoom to display visual aids during results disclosure sessions positively impacted parental experience and comprehension of their child's genomic results, especially in underrepresented groups and those with limited English proficiency.</p><p><strong>Methods: </strong>In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing. Families were randomized to receive genomic results via televisits with (ScrS) or without (NScrS) screen-sharing of visual aids. Spanish- or English-speaking parents/legal guardians completed surveys at three time points to assess perceived and objective understanding, perceived confidence, and telehealth experience. Regression models evaluated the effect of screen-sharing over time.</p><p><strong>Results: </strong>Overall, understanding and telehealth experience ratings were high, with no significant differences between the ScrS (N = 192) and NScrS (N = 200) arms with regard to perceived (p = 0.32) or objective (p = 0.94) understanding, confidence (p = 0.14) over time, or telehealth experience (p = 0.10). When stratifying by sociodemographic characteristics and type of device used during results disclosure, we observed subtle differences in the effect of screen-sharing within some subgroups.</p><p><strong>Conclusion: </strong>While screen-sharing had no significant impact on overall outcomes, we identified modest effects of screen-sharing within population groups that highlight the need for tailored communication strategies to ensure diverse, multilingual communities derive equitable benefit from telehealth-based genomic results disclosure. Future research is needed to determine whether certain types of visual aids best enhance genomic results disclosure in larger, more robust studies designed to detect smaller effects and subgroup differences.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"85-101"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11839312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015181","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":"From Genes to Public Health: The Journey Continues!","authors":"Muin J Khoury","doi":"10.1159/000545406","DOIUrl":"https://doi.org/10.1159/000545406","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"28 1","pages":"144-149"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049217","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":"Charting the Future of Clinical Genomics: An Implementation Science Lens.","authors":"Stephanie Best, Skye McKay, Megan C Roberts, Natalie Taylor","doi":"10.1159/000548512","DOIUrl":"10.1159/000548512","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"287-291"},"PeriodicalIF":1.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145151653","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":"Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.","authors":"Margaret Waltz, Ann Katherine M Foreman, Rebecca A Gibson, Samantha Schilling, Laura V Milko, Rachel Phillips, Julianne M O'Daniel, Stefanija Giric, Kimberly Foss, Elizabeth K Branch, Neal A DeJong, Michelle L Hernandez, Bradford C Powell, Jonathan S Berg, R Jean Cadigan, Megan C Roberts","doi":"10.1159/000545839","DOIUrl":"10.1159/000545839","url":null,"abstract":"<p><strong>Introduction: </strong>As genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening (ABGS) is an approach that proposes to integrate targeted genomic sequencing for highly actionable genetic conditions into routine well-child care at specific time points aligned with optimal interventions. Prior to the clinical implementation of ABGS in pediatric primary care, however, it is necessary to investigate the factors that may affect its adoption.</p><p><strong>Methods: </strong>We conducted 20 interviews with providers from 11 clinics across North Carolina. Interviews lasted approximately 45 min, and rapid qualitative analysis was conducted using an analytic matrix.</p><p><strong>Results: </strong>Interviewees stated that, in general, implementation of ABGS would be feasible but identified several barriers, including providers' potential discomfort discussing genomic screening and returning results as well as broader concerns about the potential to exacerbate health disparities. Providers also noted potential challenges affecting interest from patients and families, such as caregiver anxiety while awaiting results, patient apprehension regarding invasive sample collection methods (like blood draws), and a general lack of trust in government and medical institutions.</p><p><strong>Conclusion: </strong>While ABGS was viewed as feasible, the identified barriers emphasize the importance of piloting this approach, particularly in terms of potential exacerbation of health disparities. These findings are useful to guide early development and assessment of efforts like ABGS and may also be applicable to broader integration of genomic screening into primary care.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"180-189"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041967","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":"Psychometric Properties of a Culturally Adapted Spanish Version of the Attitudes toward Genomics and Precision Medicine Instrument.","authors":"Ella Anghel, María Pineros-Leano, Isabella R McDonald, Andrew A Dwyer","doi":"10.1159/000546101","DOIUrl":"10.1159/000546101","url":null,"abstract":"<p><strong>Introduction: </strong>There is evidence of growing racial and ethnic disparities in genomic healthcare and precision medicine. Validated survey instruments and measures are required to understand the needs of diverse populations to appropriately tailor person-centered approaches and end disparities in genomic healthcare and precision medicine.</p><p><strong>Methods: </strong>We aimed to examine the psychometric properties of a culturally adapted Spanish version of the Attitudes toward Genomics and Precision Medicine (AGPM). First, we culturally adapted the AGPM. We then conducted a web-based evaluation of the Spanish AGPM in a cohort of 486 individuals identifying as Hispanic to establish the Spanish version's reliability, factor structure, and measurement invariance relative to the English version. We also compared AGPM responses between Spanish- and English-speaking Hispanic individuals.</p><p><strong>Results: </strong>The Spanish version of the AGPM demonstrates robust internal consistency with Cronbach alpha ranging from 0.84 to 0.98 across domains. All AGPM items significantly loaded on their respective factor (p < 0.001). Configural, metric, strict, and residual invariance models all met absolute and relative fit criteria. Significant differences were observed between Spanish- and English-speaking participants in some AGPM subscales.</p><p><strong>Conclusions: </strong>The Spanish version of the AGPM demonstrates sound psychometric properties and may be useful for informing culturally empowered approaches to genomic healthcare and precision medicine for people identifying as Hispanic.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"196-204"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065122","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":"Impact of PD-L1 Gene Polymorphisms and Interactions with Cooking with Solid Fuel Exposure on Tuberculosis.","authors":"Kun Tang, Jing Wang, Hua Zhong, Qiaozhi Wang, Zihao Li, Chunli Wu, Rongjing An, Ying Lin, Hongzhuan Tan, Lizhang Chen, Mian Wang, Mengshi Chen","doi":"10.1159/000538904","DOIUrl":"10.1159/000538904","url":null,"abstract":"<p><strong>Introduction: </strong>Given that PD-L1 is a crucial immune checkpoint in regulating T-cell responses, the aim of this study was to explore the impact of PD-L1 gene polymorphisms and the interaction with cooking with solid fuel on susceptibility to tuberculosis (TB) in Chinese Han populations.</p><p><strong>Methods: </strong>A total of 503 TB patients and 494 healthy controls were enrolled in this case-control study. Mass spectrometry technology was applied to genotype rs2297136 and rs4143815 of PD-L1 genes. The associations between single nucleotide polymorphism (SNPs) and TB were assessed using unconditional logistic regression analysis. Marginal structural linear odds models were used to estimate the gene-environment interactions.</p><p><strong>Results: </strong>Compared with genotype CC, genotypes GG and CG+GG at rs4143815 locus were significantly associated with susceptibility to TB (OR: 3.074 and 1.506, respectively, p &lt; 0.05). However, no statistical association was found between rs2297136 SNP and TB risk. Moreover, the relative excess risk of interaction between rs4143815 of the PD-L1 gene and cooking with solid fuel was 2.365 (95% CI: 1.922-2.809), suggesting positive interactions with TB susceptibility.</p><p><strong>Conclusion: </strong>The rs4143815 polymorphism of the PD-L1 gene was associated with susceptibility to TB in Chinese Han populations. There were significantly positive interactions between rs4143815 and cooking with solid fuel.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"74-82"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913142","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":"Co-Creating the Experience of Consent for Newborn Genome Sequencing: The Generation Study.","authors":"Mathilde Leblond, Mirabai Galati, Jonathan Roberts, Harriet Etheredge, Nancy Willacy, Öznur Özkurt, Amanda Pichini","doi":"10.1159/000541935","DOIUrl":"10.1159/000541935","url":null,"abstract":"<p><strong>Introduction: </strong>The Generation Study (GS) aims to recruit 100,000 newborns in England to evaluate the utility and feasibility of using whole genome sequencing to screen for rare conditions that can be treated in early childhood; enable wider research to support further discovery in genomics and health; and explore the potential of storing an individual's genome over their lifetime. The GS incorporates complexities of consent in newborn screening, genomic medicine, and healthcare research, and there is a gap in exploring how to implement existing recommendations. Participant involvement has been shown to improve the implementation of processes and materials in healthcare. This paper describes how the GS team leveraged this through Design Research (DR) methodologies to develop the GS consent experience.</p><p><strong>Methods: </strong>Over a 2-year period, 9 rounds of DR were undertaken with expectant and recent parents and a chosen partner (n = 105). Each round consisted of semi-structured interviews and a range of co-design and usability testing activities.</p><p><strong>Results: </strong>DR activities highlighted areas for consideration for consent materials and processes. We describe common barriers and enablers across three stages of consent: awareness, consideration, and making an informed decision. As well as ensuring participants fully understand pros and cons of taking part, materials should consider pre-existing assumptions or misconceptions which may discourage parents from learning about the GS.</p><p><strong>Conclusion: </strong>Involving parents in co-creation has broadened the perspective of what constitutes informed decision-making for newborn genome sequencing. Iterative rounds of research and design can provide tangible paths forward, supporting the successful implementation of informed decision-making.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"210-227"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479084","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 Biggest Struggle: Navigating Trust and Uncertainty in Genetic Variant Interpretation.","authors":"Zachary Griffen, Dina M Asfaha, Kellie Owens","doi":"10.1159/000542274","DOIUrl":"10.1159/000542274","url":null,"abstract":"<p><strong>Introduction: </strong>As the utility of genomic sequencing increases, its use in healthcare will continue to expand beyond expert clinics toward nonspecialist practices such as primary care. At the same time, discordance in genetic variant identification and classification between laboratories remains a concern for the field. This research assesses how clinicians with and without genetics expertise understand and trust genetic test results, underscoring how variation in the handling of genetic test results can have real impact on patient care.</p><p><strong>Methods: </strong>We conducted 40 interviews with genetics experts, including clinical geneticists and genetic counselors, and nonexpert clinicians including primary care providers and cardiologists.</p><p><strong>Results: </strong>Clinical geneticists and genetic counselors reported spending significant time assessing the validity of results from genetic testing laboratories, conversing with laboratories about those results, and potentially reinterpreting results. Conversely, primary care providers and cardiologists without specific genetics expertise reported high levels of trust in laboratory accuracy and variant interpretation, and did not reassess results.</p><p><strong>Conclusion: </strong>We find significant variation in how genetics experts and nonexperts understand the trustworthiness of genetic laboratory reports. This variation could lead to differences in patient care between clinical settings and requires additional guidance for clinicians regarding the handling of genetic test results.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"228-232"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11588501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511688","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}