Public Health Genomics最新文献

{"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":"https://doi.org/10.1159/000548512","url":null,"abstract":"<p><p>The integration of genomics into routine healthcare is transforming clinical practice and public health, yet its implementation remains fragmented and uneven across global contexts. With over 65 international initiatives advancing personalized medicine, the need for systematic and collaborative approaches to implementation has never been more urgent. This special issue brings together contemporary research at the intersection of clinical genomics and implementation science, highlighting innovative strategies, methodological advancements, and equity-focused practices. Through diverse case studies - from newborn screening and cancer genomics to population-level programs - contributors explore individual, organizational, and systems-level approaches to embedding genomics in healthcare. Key themes include the role of co-design in enhancing informed decision-making, the development of theory-informed toolkits for service optimization, and the importance of standardizing implementation outcomes to improve scalability and sustainability. A critical focus on equity, authenticity, and trust underscores the imperative to ensure genomic advances do not exacerbate existing disparities. Studies emphasize community engagement, decentralization of expertise, and consumer co-creation as foundational to ethical and effective implementation. Despite a growing body of literature, evidence remains scattered across hundreds of journals, complicating access and synthesis. This issue advocates for a centralized repository to curate and advance the field. By showcasing real-world successes and challenges, this collection aims to accelerate the translation of genomic innovation into inclusive, impactful healthcare solutions.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.5,"publicationDate":"2025-09-22","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":"Democratizing Education for Sickle Cell Disease Gene Therapy: A Community-Based Model for Creating Patient Education Materials.","authors":"Vence L Bonham, Kiana Amini, Ashley J Buscetta, Diba Seddighi, Hasmin C Ramirez, Rachele Willard, Kimberly A Kaphingst","doi":"10.1159/000548133","DOIUrl":"https://doi.org/10.1159/000548133","url":null,"abstract":"<p><p>Introduction Deliberative democracy is an inclusionary approach to reaching consensus decision-making through participative and representative engagement. The Democratizing Education for Sickle Cell Disease Gene Therapy Project used a deliberative community engagement model to partner with patient advocacy and research community members within the field of sickle cell disease (SCD) gene therapy to create new, accessible patient education materials (PEMs) about SCD gene therapy. Objective Develop PEMs for sickle cell disease gene therapy and study the process of deliberative community engaged research Methods A study of the experiences of a multi-disciplinary group of participants including patients, patient advocates, health professionals, gene therapy researchers, industry and government members using a deliberative community engagement model to develop new PEMs. Multiple types of data were collected including survey data (three-time points), video and audio recordings of deliberations, and focus groups. Mixed-methods analysis were used to evaluate the experience of participating in the deliberative community engagement approach. Conclusion The experiences and views of participants reveal both the strengths and challenges of using the deliberative community engagement model to involve participants of diverse backgrounds, life experiences, and expertise. Project participants identified four key focus areas for PEM development: (1) types of gene therapy and alternative curative approaches; (2) social context of gene therapies; (3) treatment medical impact (risks &amp; benefits); and (4) participation in gene therapy clinical trials. The findings from this project provide key insights on the strengths and challenges of a deliberative community engagement model that will be increasingly relevant as the field of gene therapy grows globally.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-12"},"PeriodicalIF":1.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034520","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":"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":"1-15"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","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":"Achieving the Vision of Genomics to Improve Health for All Requires a Focus on Diversity, Equity and Inclusion.","authors":"Muin J Khoury, Colleen M McBride, Martina C Cornel","doi":"10.1159/000547309","DOIUrl":"10.1159/000547309","url":null,"abstract":"<p><p>None.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-5"},"PeriodicalIF":1.5,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144734939","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":"Exploring Dutch citizens' perspectives, expectations, and decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT).","authors":"Danny Bruins, Suzanne M Onstwedder, Martina C Cornel, Marc H W van Mil, Margreet G E M Ausems, Olga C Damman, Tessel Rigter","doi":"10.1159/000547527","DOIUrl":"10.1159/000547527","url":null,"abstract":"<p><strong>Introduction: </strong>Qualitative insights into European citizens' beliefs, expectations, attitudes, and factors relevant for decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT) are scarce. Assessment thereof is essential to eventually empower them for informed decision-making and responsible use regarding DTC-GT. Materials &amp; Methods: Twenty semi-structured, in-person interviews were conducted with a cohort of socio-demographically diverse Dutch citizens. During the interview, participants viewed an informative video regarding DTC-GT to ensure baseline knowledge, and hypothetical company materials, including an estimated disease risk, to assess the reactions of citizens to such materials. Interviews were transcribed verbatim and thematically analyzed.</p><p><strong>Results: </strong>Participants were generally unaware of health-related DTC-GT prior to the interview invite. Participants expressed sizeable expectations across the entire DTC-GT consumer journey, and demonstrated several recurring misconceptions. Participants also indicated distrust towards DTC-GT sellers and their practices, and expressed dissatisfaction concerning the hypothetical results they received. Most participants indicated they would not be willing to undergo DTC-GT, but provided argumentation and weight of each argument were unique to each participant, indicating unique decision-making processes. Price was an important modifying factor in participants' decision-making. Participants suggested information provision by independent parties, development of quality marks, and implementation of enforceable regulation and legislation to support their decision-making.</p><p><strong>Conclusions: </strong>Participants' expectations regarding health-related DTC-GT and towards DTC-GT sellers appear sizeable, and decision-making very personal. Stimulating informed decision-making through enhancement of information provision, (social) media campaigns, education, development of quality marks, and implementation of enforceable regulation and legislation, could aid in empowering citizens for responsible use of DTC-GT.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-36"},"PeriodicalIF":1.5,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692200","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":"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":"Progress and Criteria in Public Health Applications of Gene Therapy and Gene Editing: Beyond the White Paper.","authors":"Stephen M Modell, Jennifer A Smith, Sharon L R Kardia","doi":"10.1159/000546850","DOIUrl":"10.1159/000546850","url":null,"abstract":"<p><strong>Background: </strong>In 2023, the FDA approved two gene therapies for sickle cell disease (SCD), one of which follows a standard gene therapy protocol and the other a gene editing (CRISPR/Cas9) approach. Other gene therapy protocols for conditions relating to public health continue to advance and are being discussed in academic and professional circles. This review examines the pace of public health-related gene therapy and gene editing development since the publication of a key British white paper dealing with the pace of fruition in this field.</p><p><strong>Summary: </strong>Gene therapy developments related to public health fit into three overarching baskets: (1) gene therapy and editing for rare, single-gene disorders (e.g., homozygous familial hypercholesterolemia and hereditary amyloidosis polyneuropathy); (2) gene therapy and editing for high prevalence conditions (e.g., SCD); and (3) genetic engineering and gene editing of mosquitoes transmitting tropical disease. While the protocols listed in this purposive inspection largely center around phase III (comparing treatments), with several in phase II (establishing efficacy) and phase I (assessing safety), costs of actual administration can span USD 2.1 to 3.1 million. By comparison, conventional SCD treatment runs between USD 22,500 and USD 200,000 per year for its most severe forms. Expert and public buy-in of gene editing of mosquitoes to reduce tropical disease and for human germline gene editing contain many caveats, with public health serving a useful monitoring and filtering role for how a technology might be deemed permissible.</p><p><strong>Key messages: </strong>Gene therapy has advanced beyond the stage where possible consequences serve as an automatic barrier to mainstream use, moving it closer to British white paper objectives. Ethical and feasible adoption by public health, taking into account population needs, will most likely happen through a combination Medicaid and Medicare, as opposed to the system governing newborn screening, under arrangements similar to the Centers for Medicare and Medicaid Services' coverage under evidence development program. Vector gene drives to alleviate tropical disease should remain privately financed, with this type of financing also being used for the vast majority of gene therapies entering the market. Though the criteria for germline applications continue to evolve, in the end such applications do not serve public health purposes. Academic public health has a monitoring role to play as relevant gene therapy and gene editing trials evolve; public health practice a referral and field monitoring role in the T3 (implementation) and T4 (population outcomes) translational research phases for the few applications that could justifiably receive public funding and public health support.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"241-251"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327527","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":"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":"190-195"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","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":"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":"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}