Public Health Genomics最新文献

筛选
英文 中文
Health system-led early consent and direct contact of at-risk relatives: Pilot study results. 卫生系统主导的早期同意和直接联系高危亲属:试点研究结果。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-04-03 DOI: 10.1159/000545404
Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig
{"title":"Health system-led early consent and direct contact of at-risk relatives: Pilot study results.","authors":"Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig","doi":"10.1159/000545404","DOIUrl":"https://doi.org/10.1159/000545404","url":null,"abstract":"<p><strong>Introduction: </strong>At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the U.S., probands are expected to notify their own at-risk relatives, but many relatives never learn of their risk, representing missed opportunity to reduce morbidity and mortality associated with hereditary cancers. Direct contact of relatives could reach relatives not contacted by the proband. We conducted a single-arm, prospective pilot evaluation of a direct contact intervention based on patient and family preferences. Here we report the study's quantitative results, measured by proband and relative participation in the intervention follow-up survey.</p><p><strong>Methods: </strong>We recruited adults receiving genetic counseling for inherited cancer risk at one U.S. integrated health system. A genetic counselor offered to contact at-risk relatives. We surveyed probands and relatives at study enrollment and 6-8 weeks and evaluated administrative data to assess the program's outreach to probands and relatives, its acceptability, and its limited efficacy.</p><p><strong>Results: </strong>We approached 148 probands before their genetic counseling appointment. 55 (37%) consented to study participation. Of these, 31 completed genetic testing, 29 of whom provided consent to contact 101 relatives. 44% (n=45) of relatives consented to be contacted by the study genetic counselor. Acceptability was high for both groups and no harms were reported. All relatives reached (n=43) received their proband's test results, including 6 pathogenic/likely pathogenic findings.</p><p><strong>Conclusion: </strong>A direct contact program was acceptable, reached at-risk relatives and communicated proband test results. Direct contact with early consent of relatives holds promise for future research.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-22"},"PeriodicalIF":1.3,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781744","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
Effect of Trust in Science on Parental Reactions to Messaging about Children's Epigenetics-Related Obesity Risk. 对科学的信任对父母对有关儿童表观遗传学相关肥胖风险信息的反应的影响。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-03-27 DOI: 10.1159/000543627
Emma M Schopp, Rebecca A Ferrer, Sherine El-Toukhy, Susan Persky
{"title":"Effect of Trust in Science on Parental Reactions to Messaging about Children's Epigenetics-Related Obesity Risk.","authors":"Emma M Schopp, Rebecca A Ferrer, Sherine El-Toukhy, Susan Persky","doi":"10.1159/000543627","DOIUrl":"https://doi.org/10.1159/000543627","url":null,"abstract":"<p><p>Introduction Accumulating evidence suggests that preconception epigenetic changes elevate the risk for obesity throughout the lifespan. Little is known about how parents may react to learning about parent-child epigenetic transmission of obesity risk. Further, it is unclear how trust in science may moderate these responses. Methods We compared risk perceptions, behavioral intentions, perceived control, and information-focused ratings of 322 parents with higher weight status who were randomized to read an article about the role of preconception epigenetics in intergenerational obesity risk transmission, versus three comparators that focused on genetics, family environment, or an unrelated topic. Results Parents had largely similar reactions to the epigenetics, genetics, and family environment articles in terms of perceived credibility, relevance, and threat response, but the epigenetics article failed to produce the elevated cognitive [F(3, 310)=3.027, p=0.030] and affective/intuitive [F(3, 310)=3.05, p=0.029] risk perceptions observed in response to the genetics and family environment articles compared to control. Science trust moderated individual reactions to the epigenetics concepts, such that those with low science trust exhibited lower attentiveness to the epigenetics article [F(4, 249)=2.92, p=.022], and groups with low, medium, or high science trust exhibited distinct reaction profiles in terms of affective/intuitive risk perception [F(6, 310)=2.40, p=0.028]. Conclusion An audience's trust in science should be considered when tailoring messages about the role of epigenetics in conveying obesity risk from parent to child.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-23"},"PeriodicalIF":1.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732565","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
Facilitating equitable access to genomic testing for advanced cancer: A combined intuition and theory informed approach to intervention development and deployment.
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-03-11 DOI: 10.1159/000544946
Rona Weerasuriya, Joseph Elias, Melissa Martyn, Sophie O'Haire, Clara Gaff, Kortnye Smith, Jayesh Desai, Natalie Taylor
{"title":"Facilitating equitable access to genomic testing for advanced cancer: A combined intuition and theory informed approach to intervention development and deployment.","authors":"Rona Weerasuriya, Joseph Elias, Melissa Martyn, Sophie O'Haire, Clara Gaff, Kortnye Smith, Jayesh Desai, Natalie Taylor","doi":"10.1159/000544946","DOIUrl":"https://doi.org/10.1159/000544946","url":null,"abstract":"<p><strong>Introduction: </strong>Rapid advancements in genomic testing have revolutionised cancer care diagnostics and treatment. However, keeping pace with the evolving genomics knowledge is a challenge for oncologists who are not genomic experts. This detrimentally impacts on equitable patient access to related services and benefits which require training in genomics. In Australia, cancer incidence, survival, and mortality rates are significantly worse in the most socioeconomically disadvantaged areas compared to the least disadvantaged areas. Guided by implementation science methods, the research aimed to determine how to support oncologists with varying levels of genomic expertise to tailor optimal treatment decisions and deliver a high-quality service, across diverse locations.</p><p><strong>Methods: </strong>We used a novel approach combining clinician intuition and implementation science theory to co-design service interventions (i.e. service models) and associated implementation strategies to inform operationalisation. Phenomenology and principles of co-design guided two phases of data collection with two separate cohorts of oncologists delivering care to advanced cancer patients. Phase 1 interview data was coded thematically to develop the service models, while phase 2 focus group data was used to identify implementation strategies to support service model operationalisation. The Consolidated Framework for Implementation Research (CFIR) informed phase 1 and 2 data analysis.</p><p><strong>Results: </strong>Phase 1 established three overarching themes and nine subthemes: (1) access - potential for inequitable patient access by centralising genomic expertise, (2) indicators for test use - identifying suitable patients for Comprehensive Genomic Profile (CGP) testing, and (3) supporting use of results - confidence to discuss results, particularly from germline and somatic testing. Five challenges were prioritised, mapped to the CGP clinical pathway, and coded to 11 unique CFIR constructs. Across all five prioritised challenges, we recorded 19 intuitive and generated 21 theory-informed strategies. The development of three service models (i.e., centralised expert, local super user and point of care resources) arose through considering these strategies in combination with the study teams broader experiences with the iPREDICT trial. In Phase 2, we identified 11 implementation challenges, mapped to 7 CFIR constructs, and 11 intuitive and 20 theory-informed strategies for service model operationalisation.</p><p><strong>Conclusion: </strong>The service models generated from our study are currently being tested in a multi-centre implementation study to evaluate feasibility, effectiveness, acceptability, sustainability, and scalability in 2025.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-27"},"PeriodicalIF":1.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607046","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
Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States. 现代家庭:在美国,以系统为主导联系符合级联筛查条件的亲属的伦理理由。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2024-11-09 DOI: 10.1159/000541301
Katherine E Bonini, Hadley Stevens Smith, Emily S Bonkowski, Benjamin E Berkman, Leila Jamal
{"title":"Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States.","authors":"Katherine E Bonini, Hadley Stevens Smith, Emily S Bonkowski, Benjamin E Berkman, Leila Jamal","doi":"10.1159/000541301","DOIUrl":"10.1159/000541301","url":null,"abstract":"<p><strong>Background: </strong>Though genomic science has rapidly advanced, efforts to demonstrate the population-level utility of genomics have been slow to follow. It has long been argued that the family is an important unit of significance in genomics, yet it has been challenging to address this in clinical care. This is apparent in how hospital administrators and clinicians in the United States typically approach cascade screening, the process of notifying and offering genetic testing to at-risk relatives of a patient with a hereditary condition. The most common notification approach is proband-led contact, in which the index patient is responsible for communicating a health risk to their relatives. This model has been associated with suboptimal outcomes. In contrast, recent research has shown that system-led contact, in which healthcare or public health institutions initiate communication to relatives with the proband's consent, has been associated with increased clinical utility and acceptability.</p><p><strong>Summary: </strong>With the needs of hospital administrators and clinicians in mind, we revisit normative questions about the appropriate way to notify relatives about their potentially elevated risk of developing an actionable disease. We review evidence demonstrating that system-led direct contact of relatives is feasible and acceptable. We further argue that system-led contact of relatives eligible for cascade screening is ethically justified if these programs are designed with public input, have an opt-out provision, and are implemented for conditions that meet specific criteria which we propose in this article.</p><p><strong>Key messages: </strong>In this article, we emphasize the usefulness of public health ethics frameworks to inform the design of system-led contact programs. Beyond this, we make the case that such programs are necessary to realize the population utility of genomic medicine equitably.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"19-33"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631462","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
Evaluating the Implementation of the Rapid Prenatal Exome Sequencing Service in England. 评估英格兰快速产前外显子组测序(pES)服务的实施情况。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2024-12-12 DOI: 10.1159/000543104
Holly Walton, Morgan Daniel, Michelle Peter, Hannah McInnes-Dean, Rhiannon Mellis, Stephanie Allen, Naomi J Fulop, Lyn S Chitty, Melissa Hill
{"title":"Evaluating the Implementation of the Rapid Prenatal Exome Sequencing Service in England.","authors":"Holly Walton, Morgan Daniel, Michelle Peter, Hannah McInnes-Dean, Rhiannon Mellis, Stephanie Allen, Naomi J Fulop, Lyn S Chitty, Melissa Hill","doi":"10.1159/000543104","DOIUrl":"10.1159/000543104","url":null,"abstract":"<p><strong>Introduction: </strong>In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical and two laboratory teams. While there was high level national guidance to support implementation, it was unclear how the service had been delivered in practice. This study evaluated pES service implementation across England, using the major system change (MSC) framework to explore links between implementation approaches and outcomes.</p><p><strong>Methods: </strong>We conducted a national mixed-methods multi-site study of 17 clinical genomics services, their linked fetal medicine services and two laboratories delivering the pES service. The MSC framework informed the study. Key documents, semi-structured interviews (eight national service developers, 55 staff), and surveys (n = 159 staff) were analysed using inductive and deductive thematic analysis and descriptive statistics. Findings were integrated.</p><p><strong>Results: </strong>Implementation was influenced by a range of factors including evidence of benefit, laboratory service reconfiguration, and stakeholder support. Local implementation approaches varied; seven models of service delivery were identified. Key differences between models included leadership, staffing, and multidisciplinary team approaches. Local staff factors (e.g., time, capacity, attitudes), pES service factors (e.g., communication/collaboration, logistics), and organisational factors (e.g., infrastructure and previous experience) influenced implementation.</p><p><strong>Conclusion: </strong>We have identified multiple barriers and facilitators that are associated with implementing a major change to genomic services in a complex national healthcare system. This study highlights which models of pES may work in practice and why. Findings will inform future development of the pES service.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"34-52"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819733","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
Adopting Public Health Genomics when the House Is on Fire: How Will We Navigate to 2030? 当房子着火时采用公共健康基因组学:我们将如何导航到2030年?
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1159/000543161
Jeffrey Braithwaite, Samantha Spanos, Klay Lamprell, Maryam Vizheh, Samran Sheriff, Georgia Fisher, Lisa Pagano, Louise A Ellis, Kate Churruca, Romika Patel, Natalie Taylor, Stephanie Best, Janet C Long
{"title":"Adopting Public Health Genomics when the House Is on Fire: How Will We Navigate to 2030?","authors":"Jeffrey Braithwaite, Samantha Spanos, Klay Lamprell, Maryam Vizheh, Samran Sheriff, Georgia Fisher, Lisa Pagano, Louise A Ellis, Kate Churruca, Romika Patel, Natalie Taylor, Stephanie Best, Janet C Long","doi":"10.1159/000543161","DOIUrl":"10.1159/000543161","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"53-65"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923460","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: 0
Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents. 针对成人遗传性癌症风险的儿科 DTC 基因检测:高风险父母的观点。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-02-05 DOI: 10.1159/000543913
Madison K Kilbride, Beth N Peshkin, Jada G Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M Domchek, Sarah Vittone, Marcelo M Sleiman, Mary Rose Yockel, Caroline Salafia, Claudine Isaacs, Benjamin S Wilfond, Muriel R Statman, Kenneth P Tercyak
{"title":"Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents.","authors":"Madison K Kilbride, Beth N Peshkin, Jada G Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M Domchek, Sarah Vittone, Marcelo M Sleiman, Mary Rose Yockel, Caroline Salafia, Claudine Isaacs, Benjamin S Wilfond, Muriel R Statman, Kenneth P Tercyak","doi":"10.1159/000543913","DOIUrl":"10.1159/000543913","url":null,"abstract":"<p><strong>Introduction: </strong>Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents toward such testing.</p><p><strong>Methods: </strong>Interviews were conducted with N = 30 parents (children ages 10-21) carrying pathogenic variants in cancer-causing genes available for detection through DTC tests. Interviews were analyzed inductively using a standardized methodology to identify prominent themes.</p><p><strong>Results: </strong>Three major themes were identified: (1) high-risk parents' motivations for pediatric genetic testing, (2) risks and benefits of pediatric genetic testing, and (3) parental involvement of children in decision-making about testing. Although only n = 5 parents (17% of the sample) reported that their children were genetically tested (n = 3 through a DTC company, n = 2 through a clinician), 73% endorsed pediatric genetic testing for general health reasons. Many parents (53%) expressed a preference for clinical testing over DTC testing. While parents recognized the limits of DTC testing, some (40%) expressed that it should remain available to high-risk parents for the purpose of identifying cancer risks in their children. Children's maturity (70%), interest in testing (77%), and anticipated responses to testing (43%) were cited as important decisional considerations.</p><p><strong>Conclusion: </strong>Few high-risk parents utilized DTC testing for their children. Parents generally preferred the prospect of clinical testing, but some believed DTC testing should be an option available to families. Clinicians should discuss the risks and benefits of pediatric genetic testing, including DTC, with high-risk parents. This may facilitate more informed decision-making that minimizes potential harms.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"102-112"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11867838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191061","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: 0
Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England. 服务提供存在差异:英国国家医疗服务机构为儿科罕见病患者提供全基因组测序服务的异同。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI: 10.1159/000542027
Nastazja Monika Laskowski, Angus Clarke, Christine Patch, Amanda Pichini, Melissa Hill, Sinead Whyte, Celine Lewis
{"title":"Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England.","authors":"Nastazja Monika Laskowski, Angus Clarke, Christine Patch, Amanda Pichini, Melissa Hill, Sinead Whyte, Celine Lewis","doi":"10.1159/000542027","DOIUrl":"10.1159/000542027","url":null,"abstract":"<p><strong>Introduction: </strong>The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspective to global developments in WGS.</p><p><strong>Methods: </strong>We used an implementation science approach with mixed methods to characterise delivery of WGS for paediatric rare diseases: observations and field notes of consent appointments in clinical genetics and mainstream settings and follow-up qualitative semi-structured interviews with the clinical team. Process maps were developed for each department to identify similarities and variations between sites and thematic analysis of interview data to understand barriers and facilitators.</p><p><strong>Results: </strong>Data collection occurred in 12 departments (7 genetic, 3 neurology, 1 cardiology, and 1 general paediatric) across 7 NHS Trusts. 26 observations of 21 healthcare professionals were conducted, alongside 19 follow-up interviews. Two master maps were developed - one for clinical genetics and one for the mainstream. We identified 11 steps involved in delivering WGS, including 9 variations and 9 similarities. We identified most variation in the processes related to the \"who,\" \"when,\" \"how,\" and \"where\" as these were aspects that could be adapted to fit into the specific set-up of the department. Barriers included reluctance to uptake in the mainstream and difficulties tracking samples.</p><p><strong>Conclusion: </strong>Recommendations include developing standard operating procedures and hiring healthcare professionals responsible for facilitating consent alongside administrative aspects. These would reduce the burden on clinical geneticists and improve turnaround times as well as contribute to streamlining and standardisation of the service.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-18"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631464","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
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study. 在TeleKidSeq试点研究中,调查通过远程医疗在不同家庭中披露基因组结果时屏幕共享视觉辅助工具的影响。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-01-17 DOI: 10.1159/000542444
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
{"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":1.3,"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}
引用次数: 0
Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice.
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2024-12-19 DOI: 10.1159/000543227
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
{"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":1.3,"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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信