Public Health Genomics最新文献

{"title":"Towards Patient Involvement and Representation in the Governance of Genomic Data Archives: Deliberative forums with patients in Germany.","authors":"Eric Apondo, Katja Mehlis, Andreas Bruns, Christoph Schickhardt, Eva Winkler, Andrea Züger","doi":"10.1159/000546172","DOIUrl":"https://doi.org/10.1159/000546172","url":null,"abstract":"<p><strong>Introduction: </strong>Although it is generally agreed that the perspectives of patients should be included in decision-making about genomic data, patients rarely have a significant role in the governance of genomic data archives (GDAs). Guidance on the successful implementation of patient involvement (PI) in the governance of GDAs is lacking. This study explores the perspectives of German patients on PI in the governance of GDAs and how these perspectives can be implemented to have an impact on governance.</p><p><strong>Methods: </strong>We conducted two online deliberative forums with 26 members of the cancer and rare diseases (RD) communities in Germany. The forums were analyzed qualitatively. The findings were discussed in a follow-up dialogue event with 17 of the participants and members of a GDA (The German Human Genome-Phenome Archive, GHGA) (n=9). Two patient co-researchers were involved in all phases of the study.</p><p><strong>Results: </strong>Five themes were identified: (a) motivations for PI; (b) concerns about PI; (c) areas of governance in which PI is required; (d) resources necessary for implementation of PI; and (e) the form PI should take.</p><p><strong>Conclusion: </strong>For PI in GDAs to be meaningful, patient perspectives on the specific contextual aspects of GDAs should be actively sought. Patients' views on representation affect what form of PI they prefer and whether they experience the representation as legitimate. We discuss how the suggestions from the participants of this study were taken up in the governance policy of the GHGA.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-20"},"PeriodicalIF":1.3,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175493","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":"Workplace genomic testing: What do company websites say about federal privacy and anti-discrimination laws?","authors":"Betty Cohn, Anya E R Prince, Katherine Callahan, J Scott Roberts, Alyx Vogle, Debra J H Mathews","doi":"10.1159/000546189","DOIUrl":"https://doi.org/10.1159/000546189","url":null,"abstract":"<p><strong>Introduction: </strong>Employees considering participation in workplace genetic and/or genomic testing (wGT) as part of workplace wellness programs should be aware of legal protections of their personal genetic information. Given the relevance of the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) for informed decision making, employers offering wGT should ideally inform employees of these health policies prior to collecting any genetic data. It is unclear, however, whether and to what extent such information is being provided. Company websites provide one important resource for making employees-and the public at large-aware of important health policies governing workplace wellness programs in general, and wGT services in particular.</p><p><strong>Method: </strong>We systematically reviewed the websites of 420 companies (including 140 privately-held companies from the 2019 Forbes list of largest privately-held companies, 140 publicly-held companies from the 2019 Forbes list of largest publicly-held companies, 104 hospitals/hospital systems, and 36 companies that had evidence that they offer/have offered wGT) offering wGT services to determine if they included reference to HIPAA and GINA.</p><p><strong>Results: </strong>Our search for wGT programs on company websites found that 50 of 420 companies had evidence of offering wGT. We found 32/50 (64%) mentions of HIPAA and no mentions of GINA.</p><p><strong>Conclusions: </strong>It is imperative that HIPAA and GINA are upheld by both vendors and employers. Accessible and understandable information on these policies is needed for employees to analyze the benefits and risks of participating in wGT.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-12"},"PeriodicalIF":1.3,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045863","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":"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":"https://doi.org/10.1159/000546101","url":null,"abstract":"<p><strong>Background: </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 0.84-0.98 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":"1-17"},"PeriodicalIF":1.3,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reporting Modifications from the IMPACT-FH Study using the FRAME-IS.","authors":"Christie Gilbert Klaczko, Nicole L Walters, Andrew Brangan, Mary P McGowan, Amy C Sturm, Alanna Kulchak Rahm, Gemme Campbell-Salome, Laney K Jones","doi":"10.1159/000545974","DOIUrl":"https://doi.org/10.1159/000545974","url":null,"abstract":"<p><p>Introduction Familial Hypercholesteremia (FH), a genetic condition that causes life-long exposure to elevated LDL-cholesterol, can lead to severe life-threatening cardiac outcomes if untreated. Often undiagnosed, widespread implementation of FH screening programs is needed. The IMPACT-FH pragmatic research trial developed and tested a cascade testing program, which included three implementation strategies. Implementation strategies require modification across geographic locations and institutions. Methods Here we report the modifications made throughout the IMPACT-FH cascade testing program for at-risk relatives of patients with FH from Geisinger's MyCode Community Health Initiative (MyCode®) and MyCode Genomic Screening and Counseling Program. The program was introduced to FH probands upon return of their genetically confirmed FH result from MyCode. The implementation strategies employed included an informational packet, chatbots, and direct contact. Modifications to the IMPACT-FH cascade testing program (intervention) and its implementation strategies were extracted from meeting recordings and interviews. We used the FRAME-IS to code the nature, goal, timing, and impact of the changes on the program. Results In total, eleven modifications were made. All modifications were initiated during the implementation phase of the study, were unplanned/reactive, and were made to optimize the fit of the program and strategies for FH probands and their families. Modifications were made to the overall IMPACT-FH cascade testing program (n=3), the chatbot strategies (n=3), and the direct contact strategy (n=5). No modifications were made to the informational packet strategy. Conclusions Flexibility and reactive modifications played a key role in successful implementation of the cascade testing program within the IMPACT-FH pragmatic research trial.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-19"},"PeriodicalIF":1.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003457","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":"https://doi.org/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 minutes, 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 impacting 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":"1-18"},"PeriodicalIF":1.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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}

{"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}

{"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}

{"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":"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 geographical 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 were coded thematically to develop the service models, while phase 2 focus group data were 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 complex genomic profiling (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.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"113-130"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","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}

{"title":"Informational, Support, and Educational Needs of Parents of Children with Sickle Cell Trait.","authors":"Molly Lynch, Rebecca Wright, Melissa Raspa, Marian Sullivan","doi":"10.1159/000545911","DOIUrl":"10.1159/000545911","url":null,"abstract":"<p><strong>Introduction: </strong>Given that sickle cell disease (SCD) is a heritable condition, it is important for people who have sickle cell trait (SCT) to be aware of their status and understand their risks. This paper explores the information, education, and support needs of families whose child screens positive for SCT through newborn screening.</p><p><strong>Methods: </strong>We interviewed multiple types of key informants, including family members, healthcare providers, and representatives from national SCD organizations and community-based organizations, and state newborn screening programs.</p><p><strong>Results: </strong>We found that notification and counseling related to SCT are often deprioritized and less timely than for SCD. Few systems track follow-up for these infants and ensure that the results reach families as SCT does not require immediate treatment. Parents reported receiving minimal follow-up and health-related information from healthcare providers.</p><p><strong>Conclusion: </strong>Increasing patient-provider communication about SCT and connecting families to services could have a lasting impact on generational health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"176-179"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019719","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}