Public Health Genomics最新文献

{"title":"Assessment of prostate cancer polygenic risk score in a community-based pilot study.","authors":"Hui-Yi Lin, Carol Boxtha, Samaa El-Kolalli, Harun Mazumder, Justin Denis, Ashley O Apos Neil, Rania Abdulla, Teron Ricketts, Gustavo Alayon-Rosario, Jaime Matta, Hyun Park, Ratna Chakrabarti, Carmen Ortiz Sanchez, Stephanie Schmit, Jane Figueiredo, Shannon M Christy, Susan Vadaparampil, Kosj Yamoah, Clement K Gwede, Jong Yun Park","doi":"10.1159/phg/aenag008","DOIUrl":"https://doi.org/10.1159/phg/aenag008","url":null,"abstract":"<p><strong>Background: </strong>Currently, prostate-specific antigen (PSA) testing remains the most important tool for prostate cancer (PCa) screening, yet it does not fully inform on personal risk level. Therefore, we collected information on screening behavior, family history, and polygenic risk score (PRS) from unaffected men to assess the association among PCa screening behavior, family history, and PRS.</p><p><strong>Methods: </strong>We collected past screening behavior, family history, and self-estimated risk information using a structured questionnaire, and saliva samples to generate PRS. Genotyping was conducted using the Illumina Oncoarray assay using saliva DNA. We investigated relationships among PCa screening behavior, family history, and PRS.</p><p><strong>Results: </strong>PRS information was generated from 76 unaffected men recruited from various community settings. Among 53 African American (AA) men, 13/53 (24.5%) were in the low-risk category (<30 percentile), and 17/53 (32%) were in the high-risk category (>70 percentile). In comparison, 21/23 (91%) of European American (EA) participants were in the low-risk category, and none of EA participants were in the high-risk category. AA men had a significantly higher PRS for PCa than EAs (p<0.001). Three variables (i.e., age, family history, and PRS) were significantly associated with prior PCa screening behaviors.</p><p><strong>Discussion: </strong>This study suggested differential genetic risk levels between racial groups. Men with a high risk of PCa could benefit from informed discussions around the risks and benefits of available options for PCa screening, especially among AA men. PRS information may assist AA men and clinicians in shared and informed decision-making discussions for routine PSA screening.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1"},"PeriodicalIF":2.2,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225414","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 Need for National Public Health Leadership in Planning for DNA-based Population Screening Across the Lifespan.","authors":"Muin J Khoury, Debra Duquette, Sonja A Rasmussen, Michael F Murray","doi":"10.1159/phg/aenag009","DOIUrl":"https://doi.org/10.1159/phg/aenag009","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1"},"PeriodicalIF":2.2,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149208327","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":"\"I Don't Think It Is Fair…There Should be a Solution to Every Problem\": Experiences of Individuals with Sudden Arrhythmia Death Syndromes Who Attempt to Obtain Life Insurance.","authors":"Alexandra Blanco, Lisa Dellefave-Castillo, Megan Crowley-Matoka, Anya Prince, Debra Duquette, Sara Cherny","doi":"10.1159/phg/aenag007","DOIUrl":"https://doi.org/10.1159/phg/aenag007","url":null,"abstract":"<p><p>Sudden Arrhythmia Death Syndromes are a group of heritable genetic conditions that confer risk of sudden cardiac arrest or sudden cardiac death (SCA/SCD) in young, seemingly healthy individuals. Appropriate diagnosis of an SCA/SCD condition allows for guided management and prevents future sudden cardiac arrest and/or death from occurring. However, identification of a genetic predisposition can affect future insurance applications. While the United States' 2008 Genetic Information Non-discrimination Act (GINA) provides protection against genetic discrimination in employment and health insurance, it does not protect against the use of genetic information with regards to life insurance. This study aimed to expand the current understanding of life insurance experiences in the hereditary SCA/SCD community, gather strategies for individuals who wish to attain life insurance, and facilitate the development of life insurance specific patient and provider resources. Participants were recruited through The Sudden Arrhythmia Death Syndromes (SADS) Foundation. Semi-structured interviews were completed with 15 participants who have or are at-risk for SCA/SCD. Thematic analysis captured three themes: Emotional Outlook and Impact, Navigating the System, and Pay It Forward. Our participants with or at-risk for SCA/SCD expressed interest in attaining life insurance coverage that meets their individual needs and invested a meaningful amount of time and effort into their attempts. Most were unsuccessful. They perceived a lack of understanding regarding heritable SCA/SCD conditions by insurance professionals and felt their denials were unfairly attributed to their SCA/SCD diagnosis. Participants shared numerous suggestions for improved approaches to life insurance attainment and educational opportunities.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1"},"PeriodicalIF":2.2,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Evidence Suggesting Potential Associations Between Sleep-Related Phenotypes and Psychiatric Disorders: A Two-Sample Mendelian Randomization Study.","authors":"Gahyun Kim, Minyoung Kim, Kyung-Hun Sung, Youngoh Bae, Seung Won Lee","doi":"10.1159/phg/aenag005","DOIUrl":"https://doi.org/10.1159/phg/aenag005","url":null,"abstract":"<p><strong>Objective: </strong>Sleep-related phenotypes, including insomnia symptoms, sleep apnea, and habitual sleep duration, are increasingly recognized as potentially modifiable factors associated with psychiatric disorders. However, their potential causal roles remain uncertain because observational studies are susceptible to confounding and reverse causation.</p><p><strong>Study design: </strong>Two-sample Mendelian randomization (MR) was performed using self-reported insomnia symptoms, sleep apnea and habitual sleep duration, as exposures against 10 psychiatric outcomes: ADHD, PTSD, MDD, PPD, BIP, ASD, OCS, SCZ, AN, and PD. GWAS summary statistics were obtained from the UK Biobank, Psychiatric Genomics Consortium, and affiliated consortia. Inverse-variance weighted (IVW) was the primary method, with MR-Egger, weighted median, and MR-PRESSO applied as sensitivity analyses. Multivariable MR (MVMR) was conducted to estimate independent associations of the sleep-related phenotypes modeled simultaneously.</p><p><strong>Results: </strong>Genetically predicted insomnia symptoms showed bonferroni-significant associations with increased risk of ADHD (OR 2.50, 95% CI 1.65-3.78, p < 0.001), PTSD (OR 1.32, 95% CI 1.12-1.56, p < 0.001). Nominal associations were observed for MDD (OR 1.57, 95% CI 1.16-2.12, p = 0.003), PPD (OR 2.35, 95% CI 1.07-5.13, p = 0.033), and BIP (OR 1.67, 95% CI 1.03-2.68, p = 0.036). Genetically predicted sleep apnea showed nominal associations with OCS (OR 1.20, 95% CI 1.07-1.35, p = 0.002) and AN (OR 1.57, 95% CI 1.17-2.11, p = 0.003). Genetically predicted longer sleep duration showed nominal associations with increased risk of BIP (OR 1.26) and SCZ (OR 1.67), but did not survive multiple-testing correction. MVMR analyses showed associations of longer sleep duration with ADHD (protective; OR 0.16, 95% CI 0.05-0.54, p = 0.004) and AN (OR 37.66, 95% CI 4.12-345.21, p = 0.001); however, these estimates were imprecise and potentially affected by conditional weak-instrument bias. Sensitivity analyses did not detect significant evidence of directional horizontal pleiotropy based on the MR-Egger intercept test in univariable analyses, although MVMR estimates remained imprecise.</p><p><strong>Conclusions: </strong>The sleep-related phenotypes showed heterogeneous patterns of association with psychiatric disorders. Genetically predicted insomnia symptoms were associated with the broadest range of psychiatric outcomes, whereas sleep apnea showed more outcome-specific associations. These findings highlight the importance of considering multiple dimensions of sleep when evaluating psychiatric disorders.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149117423","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":"Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia.","authors":"Jeffery Osei, Sai Sripad Kodukula, Baffour Otchere, Om Raval, Webster Donaldy, Abhilash Suresh, Shoshana H Bardach, Jennifer Farnell, Ann Dodge, Diane MacDougall, Katherine Wilemon, Alexander C Razavi, Yan V Sun, Muin J Khoury, Laurence S Sperling","doi":"10.1159/000553208","DOIUrl":"10.1159/000553208","url":null,"abstract":"<p><strong>Background: </strong>Familial hypercholesterolemia (FH) is a common, autosomal dominant genetic disorder characterized by lifelong elevations in low-density lipoprotein cholesterol and a markedly increased risk of premature atherosclerotic cardiovascular disease. Despite a well-defined genetic architecture, highly effective therapies, and strong evidence demonstrating the benefits of early identification and treatment, FH has historically remained underdiagnosed and undertreated worldwide. This persistent gap highlights broader challenges in translating genomic discovery into measurable population health impact.</p><p><strong>Summary: </strong>In this review, we examine how initiatives led by the Centers for Disease Control and Prevention, the Family Heart Foundation, and other stakeholders have advanced awareness, case identification, surveillance, evidence-based care, and implementation of genomic medicine in cardiovascular disease prevention. Using the framework of the Essential Public Health Services - assessment, policy development, and assurance/implementation - we evaluate progress achieved, identify implementation barriers, and highlight opportunities and recommendations to strengthen the population-level impact of FH detection, treatment, and prevention efforts.</p><p><strong>Key messages: </strong>The FH experience provides valuable lessons for other genomic conditions, demonstrating that achieving public health benefit requires more than scientific discovery. Greater investment in implementation science, a continued focus on health equity, and sustained systems-level engagement will be essential to translate genomic knowledge into durable and scalable improvements in population health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"269-277"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148551281","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":"Single Nucleotide Polymorphisms in Orexin-1 and BDNF Receptor Genes are Associated with Increased Risk of Developing Postpartum Depression among Women with Gestational Diabetes Mellitus.","authors":"Pasha Ghazal, Shanza Tariq, Tehniyat Munshi","doi":"10.1159/000550243","DOIUrl":"10.1159/000550243","url":null,"abstract":"<p><strong>Introduction: </strong>Global studies have shown a bidirectional association of gestational diabetes mellitus (GDM) with postpartum depression (PPD). Despite high GDM prevalence in Pakistan (3.3%-17.8%), no prior studies have explored its link with PPD. In this study, association between GDM and risk of developing PPD was investigated and risk factors for PPD were identified using the gold-standard Edinburgh Postnatal Depression Scale (EPDS). Evidence suggests that PPD has strong genetic basis. The BDNF gene is a known candidate for PPD pathogenesis, while the orexin system is linked to arousal, energy metabolism, with emerging role in neuropsychiatric disorders. This study is the first study to explore association of orexin SNP ORX1 10914456 with PPD together with the BDNF SNP rs6265 (Val/Met66), among participants with and without GDM diagnosis.</p><p><strong>Methods: </strong>Among 1,000 women approached in hospitals of Islamabad, Rawalpindi, 800 met inclusion criteria (400 GDM, 400 non-GDM controls) and were genotyped for BDNF and orexin SNPs. Participants completed the EPDS 1 week postpartum.</p><p><strong>Results: </strong>Using a cutoff of ≥13, 84.9% of GDM patients and 18% of non-GDM controls scored ≥13 on EPDS (χ2 = 78.337, p < 0.00001). Multivariate logistic regression revealed GDM diagnosis, BMI >25, fasting plasma glucose >126 mg/dL, 31-39-week gestation, <12 years of education, and urban locality as significant risk factors for PPD. GDM diagnosis increased odds of PPD by 2.5-fold (OR = 2.5, 95% CI: 21.48-4.31, p < 0.0001). The orexin SNP Orx1 10914456, CC genotype and BDNF SNP rs6265, AA genotype increased the odds of having higher EPDS scores in GDM patients by 3.11 (OR = 3.11, 95% CI: 1.29-7.47, p < 0.001) and 3.3 (OR = 3.3, 95% CI: 1.31-8.13, p = 0.04, p < 0.05), respectively, in comparison to other genotypic variants.</p><p><strong>Conclusion: </strong>Our study supports orexin and BDNF system-targeted therapies for PPD.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"39-54"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13008399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147318742","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":"Implementation of the National Collegiate Athletic Association Sickle Cell Trait Screening Policy: Methods and Staff and Athlete Perspectives.","authors":"Kristen L Kucera, Robert P Agans, Paul A Robbins, Yingwei Yang, Mary Anne McDonald, Paul H Haagen, Mina Silberberg, Lorrie Schmid, Deborah L Marean, Charmaine D M Royal","doi":"10.1159/000550672","DOIUrl":"10.1159/000550672","url":null,"abstract":"<p><strong>Introduction: </strong>This paper describes methods for a national study evaluating the implementation of the National Collegiate Athletic Association's (NCAA) policy on sickle cell trait (SCT) screening of athletes and describes attitudes toward the screening.</p><p><strong>Methods: </strong>In Fall 2020, 343 Division I schools, 302 Division II schools, and 426 Division III schools were invited to participate in this national survey.</p><p><strong>Results: </strong>Across 123 participating schools, a total of 168 sport medicine administrators (121 head athletic trainers and 47 team physicians), 268 athletic staff (128 staff athletic trainers and 140 coaches), and 1,424 athletes from basketball, football, soccer, lacrosse, track and field completed the survey. While the vast majority of respondents agreed/strongly agreed with the screening policy, there was varying support for how the policy was implemented including prioritizing SCT screening versus screening for other conditions (40-50% agreed/strongly agreed), focusing on sports with higher risk of overexertion versus universal screening (50-75% agreed/strongly agreed), and focusing on racial and ethnic groups where SCT is more prevalent (25-40% agreed/strongly agreed). Perspectives varied by NCAA division and race. Higher SCT knowledge scores were associated with believing that screening all athletes for SCT is important.</p><p><strong>Conclusions: </strong>Discussion of these findings provides important context for assessing how genetic screening requirements are implemented within collegiate athletics and more broadly.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"94-108"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13134841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214158","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":"Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.","authors":"Saskia G Smits, Annelotte J Duintjer, Hermine A van Duyvenvoorde, Wendy Rodenburg, Mirjam van der Burg, Lidewij Henneman, Maartje Blom","doi":"10.1159/000553190","DOIUrl":"10.1159/000553190","url":null,"abstract":"<p><strong>Introduction: </strong>Technical advances and decreasing costs of next-generation sequencing have generated global interest in its potential for newborn screening (NBS). Genomic NBS (gNBS) enables the expansion of detectable conditions as a first-tier test and can improve screening accuracy as a second-tier test. A shared vision among all involved stakeholders is essential to guide the next steps for gNBS in public health programs.</p><p><strong>Methods: </strong>A Dutch stakeholder workshop on gNBS was organized and attended by 56 participants from different fields, including clinical care, genetics, research, and NBS. The workshop aimed to inform about developments, identify challenges, foster connections, and build a shared vision. Based on the workshop outcomes, recommended next steps were formulated to support policy and practice decision-making for the integration of genomics into NBS.</p><p><strong>Results: </strong>Six key themes were identified from the workshop data: (1) expansion of the scope of NBS with genomics, (2) clinical aspects, (3) technical and workflow feasibility, (4) data storage and privacy issues, (5) information provision and consent, and (6) stakeholder roles and responsibilities. Participants highlighted challenges for gNBS, including reaching consensus on scope definition, systematic gene selection, standards for variant reporting, the large data volume, the complexity of information provision, and the current representation of stakeholders in NBS.</p><p><strong>Conclusion: </strong>The recommended next steps, derived from stakeholders' perceived challenges and considerations, reflect the complex and interconnected nature of integrating genomics into NBS, emphasizing the importance of alignment and coordination across disciplines. Translating these recommendations into public health NBS practice requires strong stakeholder engagement and enhanced multidisciplinary collaboration.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"218-231"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340826","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":"The IMPACT-FH Renewal Protocol: Evaluating FH Cascade Testing Implementation in Primary Care through a Pragmatic Trial, Economic Evaluation, and Mixed-Methods Sustainability Assessment.","authors":"Kelly M Morgan, Nicole L Walters, Jazmine Gabriel, Karen Birkenhead, Andrew Brangan, Samuel S Gidding, Christie Gilbert Klaczko, Jessica Goehringer, Jing Hao, Dina Hassen, Alicia Johns, Cassidi Kalejta, H Lester Kirchner, Muki Kunnmann, Mitchell Sarkies, Amy C Sturm, Gerald F Watts, Ana Morales, Gemme Campbell-Salome, Laney K Jones","doi":"10.1159/000552982","DOIUrl":"10.1159/000552982","url":null,"abstract":"<p><strong>Introduction: </strong>Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder conferring a high risk of premature atherosclerotic cardiovascular disease (ASCVD), without early diagnosis and treatment. Underdiagnosis remains a major public health problem; cascade testing (systematically identifying blood relatives) can mitigate this burden. The Identification Methods, Patient Activation, and Cascade Testing for FH (IMPACT-FH, 5R01HL148246-04) study evaluated family communication strategies for FH cascade testing and significantly increased uptake in a population genomic screening setting. The current IMPACT-FH Renewal (2R01HL148246-05) will next adapt these strategies to individuals diagnosed with FH outside of population genomic screening, evaluate the cost and performance of detection strategies within health systems, and define elements that help sustain FH screening programs.</p><p><strong>Methods: </strong>A pragmatic trial guided by the Conceptual Model of Implementation Research will be conducted to evaluate generalized family communication strategies to facilitate FH cascade testing in primary care (aim 1). We will apply economic evaluation modeling methods to compare implementation costs, efficiency, and performance of FH implementation strategies and develop a generic modeling tool for other healthcare systems to support local decision-making (aim 2). We will use a convergent mixed-methods approach guided by the Integrated Sustainability Framework to understand factors influential in sustaining FH screening programs at an international level (aim 3).</p><p><strong>Conclusion: </strong>By addressing novel communication strategies, economic impact, and sustainability of FH cascade testing, this study seeks to develop generalizable approaches to improving identification of FH to reduce the high burden of FH-associated ASCVD.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"182-196"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13432934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148240471","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":"Hope Tempered by Caution: Public Beliefs in the USA about the Benefits and Drawbacks of Using Epigenetic Technologies in Clinical Care.","authors":"Erika A Waters, Caitlin Yuen, Clarissa Gaona Romero, Julia Maki, Bryce Puesta Takenaka, Aantaki Raisa, Erin Linnenbringer, Jada G Hamilton, Jessica Mozersky, George P Souroullas, Chelsey R Carter","doi":"10.1159/phg/aenag003","DOIUrl":"10.1159/phg/aenag003","url":null,"abstract":"<p><strong>Introduction: </strong>Clinical applications of epigenetic technologies could revolutionize precision medicine. However, successful uptake in clinical settings may be influenced by public opinion. We investigated public beliefs about possible benefits and drawbacks of epigenetic-based medical technologies.</p><p><strong>Methods: </strong>We recruited 153 adults from across the USA to participate in 1 of 27 virtual focus groups, each lasting 45-75 min. Groups were stratified by education (less than bachelor's degree vs. bachelor's degree or more) and race and ethnicity (black or African American, Asian, Indigenous [Native Hawaiian, Pacific Islander, American Indian, Alaska Native], Hispanic, and white). Participants viewed an educational video about epigenetics prior to discussion. We used inductive and deductive qualitative content analysis.</p><p><strong>Results: </strong>Participants indicated that epigenetic technologies could be used to guide risk-stratified prevention (i.e., engage in behaviors to reduce the risk of developing a health condition; engage in screening and early-detection behaviors to enable early treatment; facilitate clinical history-taking; inform reproductive planning decisions) and to develop novel therapeutics and editing approaches (i.e., new medications; epigenetic editing). However, participants also mentioned concerns about the ethical, legal, and social implications (ELSIs) of epigenetics, including exacerbating health disparities; the high cost of treatment and health insurance; promoting eugenics; and epigenetic-based discrimination by healthcare providers. Each of the race, education, and ethnicity strata included content related to each of the three major subthemes of risk-stratified prevention, novel therapeutics, and ELSI considerations.</p><p><strong>Conclusion: </strong>Efforts to translate basic epigenetics research to clinical practice hold promise, but it is also critical to create solutions that address people's concerns.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"278-288"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680901","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}