Jingsong Zhao, Colleen M McBride, James A Shepperd, Weihua An, Cam Escoffery, Kevin Ward, Rebecca D Pentz, Yue Guan
{"title":"Survivors' Responses to an Online Intervention to Promote Discussions of Cancer Genetic Risk with Blood Relatives.","authors":"Jingsong Zhao, Colleen M McBride, James A Shepperd, Weihua An, Cam Escoffery, Kevin Ward, Rebecca D Pentz, Yue Guan","doi":"10.1159/000553543","DOIUrl":"https://doi.org/10.1159/000553543","url":null,"abstract":"<p><strong>Introduction: </strong>Most studies of family communication about inherited risk of hereditary breast and ovarian cancer syndrome are conducted in high-risk clinic settings and show that cancer patients are highly selective in sharing inherited risk information. The reasoning processes behind this are not well understood and yet to be explored in population-based samples.</p><p><strong>Methods: </strong>We conducted a secondary analysis of ovarian cancer survivors participating in the Your Family Connects communication intervention. Website use data were analyzed to assess survivors' choices of at-risk relatives for contact (i.e., total number and relationship). Retrospective online think-aloud interviews explored the decision-making processes driving which relatives were included or excluded.</p><p><strong>Results: </strong>The 116 participants enumerated 164 relatives (mean = 1.41; mode = 0; range = 0 to 7). Approximately one-third of them (45/116, 38.8%) did not enumerate any relatives. Most of the participants who identified relatives (71/116) identified female relatives (95 women vs. 30 men in first-degree relatives; 29 women and 10 men in second-degree relatives). When survivors were asked to deliberate about their enumeration behaviors, they described making heuristic-based judgments about which relatives would be most likely to follow through on genetic counseling. Survivors considered that female relatives would have the most to gain, but the relatives' age and the extent of emotional closeness were also important in the decision-making process.</p><p><strong>Conclusion: </strong>Future research is needed in population-based samples to understand these qualitative drivers and consider decision-aid strategies to help cancer patients consider options for communication that are sensitive to the multifactorial context of at-risk relatives' lives.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"29 1","pages":"232-241"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13485279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800760","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}
Gerard Solís-Díez, Claudia Prats, Victòria Valls-Comamala, José M Castellano-García, Roser Mias, Ana Molina-Barceló, Paula Romeo-Cervera, Marina Pinto-Carbó, Valesca P Retèl, Lucas Frederik van Schaik, Marc Van den Bulcke, Els Van Valckenborgh, Ramon Maspons, Rossana Alessandrello
{"title":"A Value-Based Evaluation Framework for Guiding the Adoption and Scale-Up of Cancer Genomics Interventions.","authors":"Gerard Solís-Díez, Claudia Prats, Victòria Valls-Comamala, José M Castellano-García, Roser Mias, Ana Molina-Barceló, Paula Romeo-Cervera, Marina Pinto-Carbó, Valesca P Retèl, Lucas Frederik van Schaik, Marc Van den Bulcke, Els Van Valckenborgh, Ramon Maspons, Rossana Alessandrello","doi":"10.1159/000551155","DOIUrl":"10.1159/000551155","url":null,"abstract":"<p><strong>Introduction: </strong>Cancer imposes a substantial burden characterized by high morbidity and mortality, reduced quality of life, and increased healthcare costs. This burden is expected to rise due to aging populations and persistent exposure to risk factors. Although emerging cancer technologies hold promise for improving clinical and economic outcomes across the care continuum, translating research findings into routine clinical practice remains a major bottleneck. The European Commission has prioritized addressing this challenge by fostering the rapid adoption of safer and more effective interventions. As part of its strategic plan, the European Union (EU) has launched research and innovation initiatives aimed at integrating cancer genomic technologies into public health and clinical systems. The CAN.HEAL evaluation framework presents a structured approach to classifying innovative cancer-related interventions by maturity level and to guide researchers and decision-makers in supporting adoption and scale-up efforts.</p><p><strong>Methods: </strong>The evaluation framework was developed within the CAN.HEAL consortium, under the EU strategic cancer initiative that funded this research and innovation action, and agreed upon a consensus-based, iterative methodology including the stakeholders' perspectives. Key steps included landscape analysis, identification of key actions, structured discussions, expert consultations, and pilot testing of the assessment tool. The selected dimensions - grounded in equity, early health technology assessment, and innovation adoption principles - were hierarchically organized into subdomains, domains, and three overarching dimensions. A two-step scoring system was used to assess each key action across planning/definition and execution stages, with weighted final scores. The CAN.HEAL evaluation framework defines three adoption readiness levels, ranging from implementation at the healthcare provider level to integration across multiple healthcare systems. A structured 71-key action assessment tool, organized into three dimensions, was used to determine each intervention level: (1) equity - capacity building, research equity, and access; (2) impact assessment - early clinical development, cost considerations, and broader value; and (3) implementation, adoption, and scale-up readiness - desirability, feasibility, and viability from developer and adopter perspectives, including reimbursement pathways.</p><p><strong>Conclusion: </strong>The CAN.HEAL evaluation framework is designed to offer a systematic, evidence-informed approach to assessing the adoption readiness of cancer-related innovations. Further validation in cross-border, real-world settings is needed to ensure practical utility and scalability.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"122-139"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345520","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}
Lisa Dellefave-Castillo, Franceska Bhansali, Lisa Shah, Courtney L Scherr, Jennifer Louise Young, Gregory Webster, Debra Duquette
{"title":"Family Leaders Navigate Burden to Communicate Risk during Cascade Screening after Sudden Cardiac Death in the Young.","authors":"Lisa Dellefave-Castillo, Franceska Bhansali, Lisa Shah, Courtney L Scherr, Jennifer Louise Young, Gregory Webster, Debra Duquette","doi":"10.1159/000552754","DOIUrl":"10.1159/000552754","url":null,"abstract":"<p><strong>Introduction: </strong>Relatives of a victim of sudden cardiac death in the young (SCDY) may be at risk for hereditary cardiomyopathies and arrhythmias; effective communication of cardiac risk is imperative. Family leaders are often responsible for communicating risk to surviving family during a difficult time. Cascade screening uptake is low among at-risk family members; identifying barriers of risk communication can help improve strategies.</p><p><strong>Purpose: </strong>The purpose of the study was to explore barriers and facilitators to communication about cascade screening in families who have lost a family member to SCDY.</p><p><strong>Methods: </strong>Semi-structured interviews (n = 14) were conducted with family members of an SCDY decedent. Participants were recruited from the Sudden Arrhythmia Death Syndrome advocacy group. Interviews explored the facilitators, challenges, and proposed interventions at different stages of risk communication. Interviews were conducted until data saturation was reached. Interviews were audio recorded, transcribed, and analyzed using conventional content analysis.</p><p><strong>Results: </strong>Five categories were identified from the interviews: 1. Participants understood fundamental risks, but the clinical variability in arrhythmia and cardiomyopathy was difficult to interpret and convey; 2. family leaders felt some family disregarded risk information; 3. grief interfered with family leader's ability to understand and communicate risk information; 4. communication aids were insufficient stand-alone interventions; 5. families advocated for a \"genetic family navigator.\"</p><p><strong>Conclusion: </strong>This study provides new insight into cardiac risk communication between adult family members after an SCDY. Five categories provide practical strategies to improve clinical care and communication for families after SCDY and emphasize the need for genetic family navigators to facilitate cascade screening.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"197-208"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148220513","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}
Public Health GenomicsPub Date : 2026-01-01Epub Date: 2026-07-24DOI: 10.1159/phg/aenag001
Drew Blasco, Sarah McCain, Subhamoy Pal, Anya E R Prince, Wendy R Uhlmann, Kunal Sanghavi, Elizabeth Charnysh, Jonathan M Reader, Charles Lee, J Scott Roberts
{"title":"Self-Reported Genetic Discrimination: Experiences from a Large National Sample of Working Adults.","authors":"Drew Blasco, Sarah McCain, Subhamoy Pal, Anya E R Prince, Wendy R Uhlmann, Kunal Sanghavi, Elizabeth Charnysh, Jonathan M Reader, Charles Lee, J Scott Roberts","doi":"10.1159/phg/aenag001","DOIUrl":"10.1159/phg/aenag001","url":null,"abstract":"<p><strong>Introduction: </strong>As access to genetic testing outside clinical settings (e.g., direct-to-consumer, workplace genetic testing [wGT]) increases, genetic discrimination (GD) concerns persist.</p><p><strong>Methods: </strong>A sample of 2,000 working adults, representing various occupations and employment sectors, was surveyed about their perspectives on and experiences with wGT, including GD. A multivariable logistic regression was conducted to examine respondent characteristics associated with self-reported GD.</p><p><strong>Results: </strong>Overall, 14% of respondents (n = 279) indicated they experienced GD: 47.3% in healthcare/medicine, 45.5% in employment/workplace, 32.6% in insurance, 21.9% in social relationships, and 19.7% in their family. Increased likelihood of reporting GD was associated with younger age (18-34: adjusted odds ratio [aOR] = 3.10; 35-54: aOR = 1.99), identifying as Black, non-Hispanic (aOR = 1.67), Hispanic/Latino (aOR = 1.74), having a personal history of disease (e.g., cancer, heart disease) (aOR = 1.99), prior genetic testing (aOR = 2.50), prior wGT (aOR = 5.08), being offered wGT even if not participating (aOR = 2.20), and awareness of genetic antidiscrimination laws (aOR = 4.96) (all p < 0.05).</p><p><strong>Conclusion: </strong>Many respondents self-reported GD experiences, most commonly among certain racial/ethnic groups and those with a history of genetic testing and common diseases. As self-reports do not necessarily constitute legally recognizable GD instances, research and education should further examine such experiences. Education on genetic antidiscrimination protections, including information about what GD entails, existing policies, and limitations, should be a target for medical providers (e.g., genetic counselors) and employers who may offer wGT.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"289-297"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148585598","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}
Sylvia Martin, Åsa Grauman, Joshua Coulter, Mats Hansson, Alessandra Ferlini, Fernanda Fortunato, Silvia Ottombrino, Roman Raming, Ferdinand Knieling, Felix Wachter, Christina Saier, Kathrin Freyler, Jorien Veldwijk
{"title":"What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.","authors":"Sylvia Martin, Åsa Grauman, Joshua Coulter, Mats Hansson, Alessandra Ferlini, Fernanda Fortunato, Silvia Ottombrino, Roman Raming, Ferdinand Knieling, Felix Wachter, Christina Saier, Kathrin Freyler, Jorien Veldwijk","doi":"10.1159/000553234","DOIUrl":"10.1159/000553234","url":null,"abstract":"<p><strong>Introduction: </strong>The diagnostic journey for rare diseases (RDs) often involves lengthy delays and significant burdens on patients and their families. Genetic newborn screening (NBS) for RDs offers a potential opportunity for early diagnosis and treatment. This study explores factors influencing parental decisions regarding participation in genetic NBS for RDs in two European countries (Italy and Germany).</p><p><strong>Methods: </strong>This mixed-methods qualitative study is composed of focus group discussions and ranking exercises. It was conducted with parents seeking genetic testing (n = 5) and expectant parents from the general population (n = 11). All participants were recruited in spring 2024 in Germany and winter 2024 in Italy via contacts from genetic centres and obstetric services. Thematic analysis was performed by two independent coders to identify main themes and subthemes.</p><p><strong>Results: </strong>Three key themes were identified: (1) the complexity of the decision-making process, (2) the importance of certainty and disease characteristics, and (3) the anticipation of negative consequences. Participants trusted healthcare professionals to guide their decisions, also emphasizing the need for extensive education and comprehensive support systems. Concerns about test accuracy, potential psychological impact of uncertain or positive results, and anticipated social implications were also reported.</p><p><strong>Conclusion: </strong>These findings highlight the nuanced considerations surrounding the implementation of genetic NBS for RDs and the necessity of addressing parental experiences in clinical practice and policy development. Participants emphasized the importance of accessible education and clear communication, the support of trusted healthcare professionals and that ethical reflection is essential for the equitable integration of genetic NBS into newborn care.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"242-256"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13485283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148449972","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":"Hereditary Hemochromatosis and Hypertrophic Cardiomyopathy as Tier 1 Genomic Conditions: Implications for Adult Population Genomic Screening.","authors":"Scott D Grosse, Muin J Khoury, W David Dotson","doi":"10.1159/000552821","DOIUrl":"10.1159/000552821","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"169-170"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13399935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148220460","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":"Beyond the Flush: Reframing ALDH2 Deficiency as a Public Health Risk.","authors":"Jennifer L Young, Fiona Seung","doi":"10.1159/000549941","DOIUrl":"10.1159/000549941","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"21-26"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12958364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127125","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}
Yutaka Furuta, Neena S Agrawal, Natalie N Owen, Lisa A Bastarache, Cathy Shyr, Hanabi U Geiger, Shayna Jackson, Chelsea J Lauderdale, Camille R Carter, Karee A Morgan, Rizwan Hamid, John A Phillips Iii, Rory J Tinker
{"title":"Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.","authors":"Yutaka Furuta, Neena S Agrawal, Natalie N Owen, Lisa A Bastarache, Cathy Shyr, Hanabi U Geiger, Shayna Jackson, Chelsea J Lauderdale, Camille R Carter, Karee A Morgan, Rizwan Hamid, John A Phillips Iii, Rory J Tinker","doi":"10.1159/000551086","DOIUrl":"10.1159/000551086","url":null,"abstract":"<p><strong>Introduction: </strong>Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A (aGAL) deficiency. Newborn screening (NBS) programs for FD have been implemented in several US states; however, its effectiveness in identifying affected females remains uncertain. We hypothesized that sex-specific inequality of NBS-based detection of FD results in different diagnostic pathways for males and females with FD.</p><p><strong>Methods: </strong>We compared diagnostic approaches for males and females with FD using Tennessee NBS results and Vanderbilt Lysosomal Storage Disorders Database (VLSDD). Sex-specific detection differences were assessed using Fisher's exact test (α = 0.05).</p><p><strong>Results: </strong>Tennessee NBS identified 25 males but no females with FD from 2017 to 2024. In VLSDD, among 81 individuals with FD, sex distribution was nearly equal (42 males, 39 females). Among males, 26/42 (62%) were diagnosed via NBS, 7/42 (17%) through known family history, and 9/42 (21%) based on clinical symptoms. All 16 males diagnosed through non-NBS were born before its implementation. In contrast, none of the 39 females were diagnosed through NBS (p value <0.05). Of these, 13/39 (33%) were diagnosed through cascade testing following their sons' detection by NBS, with a median age at diagnosis of 28 years (25th-75th percentile: 24.5-34.0). Of the remaining 26 females, 12/26 (46%) were diagnosed after a family member was diagnosed through clinical symptoms and 14/26 (54%) were diagnosed through clinical symptoms.</p><p><strong>Conclusions: </strong>NBS effectively identifies affected males but fails to detect females with FD, though it can indirectly facilitate diagnosis of older female relatives.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"73-82"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13061393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214474","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}
Danyel I Smith, Beverly Estrada Balcarcel, Raegan Bishop, Laura M Koehly, Chiranjeev Dash
{"title":"What Makes Families SHARE: The Family Communication Environments of Disseminators and Non-Disseminators of Family Cancer History.","authors":"Danyel I Smith, Beverly Estrada Balcarcel, Raegan Bishop, Laura M Koehly, Chiranjeev Dash","doi":"10.1159/000550643","DOIUrl":"10.1159/000550643","url":null,"abstract":"<p><strong>Introduction: </strong>Family cancer history (FCH) provides insight into cancer risk and can guide prevention efforts. Black Americans experience high cancer burden and report several barriers to FCH knowledge due to family communication challenges. Few studies have examined family-level factors that impact FCH communication in Black Americans. This study employed a qualitative design to examine the family communication environments of those who communicated more (i.e., disseminators) versus less or no change (i.e., non-disseminators) about FCH, within the last year.</p><p><strong>Methods: </strong>This is a secondary data analysis of a larger study that implemented a community education program on how to calculate cancer risk from family history (i.e., Families SHARE). Black Americans (N = 39) participated in community education workshops (N = 12) and discussed family communication environments. A codebook was developed a priori and revised iteratively using a consensus approach. Dedoose qualitative software supported establishing inter-rater reliability (Cohen's kappa = 0.83) and thematic analysis. Participants received USD 50 for workshop completion.</p><p><strong>Results: </strong>Pre-workshop disseminators (n = 14) and non-disseminators (n = 25) averaged 59 years of age, were 50% female, and earned <USD 20,000 per year. Norms related to age, sex, and privacy shaped family communication environments for both groups. Disseminators were marked by stronger relational quality and frequent contact, whereas non-disseminators indicated poorer relational quality and limited information flow throughout the family.</p><p><strong>Conclusion: </strong>Theory-driven approaches that address the nuanced family communication environments of black Americans may optimize FCH communication of disseminators and non-disseminators.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"27-38"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054586","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}
Public Health GenomicsPub Date : 2026-01-01Epub Date: 2026-09-09DOI: 10.1159/phg/aenag004
Jushawn Macon, Ali Lateef, Audrey Aton, Nina Smock, Patricia Salyer, Thuelfaqar Rammaha, Mary C Politi, Laura J Bierut, Li-Shiun Chen, Alex T Ramsey
{"title":"Engagement and Retention in Precision Public Health: A Cascade Analysis of Two Cluster Randomized Trials.","authors":"Jushawn Macon, Ali Lateef, Audrey Aton, Nina Smock, Patricia Salyer, Thuelfaqar Rammaha, Mary C Politi, Laura J Bierut, Li-Shiun Chen, Alex T Ramsey","doi":"10.1159/phg/aenag004","DOIUrl":"10.1159/phg/aenag004","url":null,"abstract":"<p><strong>Introduction: </strong>When research fails to reach and engage all populations who might benefit from study findings, it can compromise scientific validity and ultimately health equity. Few studies have systematically examined factors driving study engagement through longitudinal intervention research. This project examined sociodemographic, geographic, and structural influences on engagement and attrition across the participation \"cascade\" (outreach, enrollment, and retention) for two large-scale multilevel precision medicine and precision prevention trials for smoking and lung cancer screening.</p><p><strong>Methods: </strong>Modified Poisson regression models were used to determine the factors associated with study engagement based on sociodemographic and geographical factors at each step in the cascade of participation, from initial outreach through retention at 12 months post-enrollment. Secondary analyses examined the cascade among the subset of patients who had active electronic patient portals and were approached via the portal.</p><p><strong>Results: </strong>A total of 24,366 patients were approached for participation. Race, social vulnerability index, insurance status, and distance from the study site were significantly associated with engagement at various points in the cascade. Black patients were more likely than white patients to be reached (48.9% vs. 47.1%; p = 0.022) and to complete eligibility screening (52.8% vs. 38.4%; p < 0.001), but less likely to consent to participate (56.7% vs. 69.8%; p < 0.001) and complete genetic testing (58.5% vs. 69.8%; p = 0.003). Patterns of engagement through electronic patient portal versus nonelectronic recruitment channels also differed by race- and place-based factors, with black patients being less likely than white patients to respond in the portal (8.8% vs. 15.5%; p < 0.001), and patients who reside farther from the study site being more likely to respond in the portal compared to those who live closer (14.9% vs. 12.5%; p < 0.001).</p><p><strong>Conclusions: </strong>These findings highlight the need for tailored, stage-specific engagement strategies to ensure representative participation in genomic and behavioral intervention research to advance the integration of genomics into public health practice.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"308-322"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148921607","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}