Journal of Personalized Medicine最新文献

{"title":"Molecular Residual Disease in Non-Small Cell Lung Cancer: Technology or Patient Outcomes?","authors":"Paul R Walker","doi":"10.3390/jpm16090454","DOIUrl":"10.3390/jpm16090454","url":null,"abstract":"<p><p>Molecular residual disease (MRD) testing approaches with plasma next-generation sequencing (NGS) testing to identify circulating tumor DNA (ctDNA) in resectable-stage non-small cell lung cancer (NSCLC) are evolving. The MRD concept is to better guide perioperative systemic treatment and identify recurrent NSCLC before symptomatic radiographic recurrences. Multiple tumor-informed assays are available with technology driving lower levels of ctDNA detection. However, it remains unclear that individual patients derive survival outcome benefit from MRD testing. NSCLC tumor biology of spatial heterogeneity, early parallel metastases, and recurrence clonal evolution can impact tumor-informed approaches irrespective of specific assay level of ctDNA detection. Clinical decision making guided by tumor-informed MRD testing to date have been limited by recurrence risks of up to 20% when landmark MRD-negative, improved outcomes benefit of adjuvant treatment even when landmark MRD-negative, and lead times with longitudinal MRD-positive conversion of several months or longer before overt radiographic recurrences with no proven strategy of survival benefit with intervening treatment. Cautionary tumor biology and clinical issues remain in the clinical utility of tumor-informed MRD testing in resected NSCLC. These need to be clarified with certainty before MRD testing should step beyond a technology-driven prognostic recurrence risk indicator before becoming an absolute clinical guide to meaningfully impact individual patient management and outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Personalizing Peri-Intubation Oxygenation in Patients at Risk of Acute Hypoxemic Respiratory Failure: A Phenotype-Driven Narrative Review of High-Flow Nasal Oxygen and Non-Invasive Ventilation.","authors":"Daniele Salvatore Paternò, Luigi La Via, Rossella Moltisanti, Antonio Putaggio, Angela Maria Piccolo, Giorgia Maria Noce, Roberta Scuto, Gilberto Duarte-Medrano, Natalia Nuño-Lámbarri, Emilia Concetta Lo Giudice, Massimiliano Sorbello","doi":"10.3390/jpm16090455","DOIUrl":"10.3390/jpm16090455","url":null,"abstract":"<p><p>Tracheal intubation in patients at risk of acute hypoxemic respiratory failure (AHRF) carries a high risk of life-threatening desaturation, and the choice of peri-intubation oxygenation strategy critically influences patient safety. This narrative review synthesizes current evidence on non-invasive oxygenation techniques-high-flow nasal oxygen (HFNO), non-invasive ventilation (NIV), and their combination-across the pre-oxygenation, apneic, and awake-intubation phases of airway management. We examine the physiological mechanisms underlying each modality, appraise landmark randomized trials and meta-analyses (including PREOXI, OPTINIV, and OPTIMASK), and address disease-specific considerations in chronic obstructive pulmonary disease, heart failure, interstitial lung disease, severe obesity, obstructive sleep apnea, and obstetric, pediatric, and trauma populations. The evidence supports a phenotype-driven hierarchy rather than a single dominant technique: NIV-optionally combined with HFNO for apneic oxygenation-is preferred in severely hypoxemic critically ill patients, whereas HFNO alone is adequate for many moderately hypoxemic or non-hypoxemic patients. Progressive hypercapnia limits apneic oxygenation, particularly in chronic CO₂ retainers, underscoring the value of continuous CO₂ monitoring. Persistent under-implementation of NIV-based pre-oxygenation reveals a gap between evidence and practice. Individualized, physiology-guided oxygenation-aligned with the goals of personalized peri-procedural medicine-offers the greatest potential to reduce peri-intubation morbidity.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Decision-Making Regarding the Added Value of Postoperative Chemotherapy After Complete Secondary Cytoreductive Surgery in Unifocal First Recurrent Epithelial Ovarian Cancer-An International Expert Survey.","authors":"Renée E W M van de Vorst, Sophie S M Pelk, Eelke H Gort, Petronella O Witteveen, Ronald P Zweemer, Cornelis G Gerestein","doi":"10.3390/jpm16090449","DOIUrl":"10.3390/jpm16090449","url":null,"abstract":"<p><p><b>Background</b>: Secondary cytoreductive surgery (SCS) followed by postoperative chemotherapy is a recognized option for select patients with platinum-sensitive first recurrent epithelial ovarian cancer (EOC), supported by the DESKTOP-III and SOC-1 trials. Neither trial reported chemotherapy rates stratified by lesion number or resection status. As a result, the added value of postoperative chemotherapy after complete resection of a unifocal recurrence remains unclear. This study aimed to evaluate current clinical practice and factors influencing this decision. <b>Methods</b>: A cross-sectional survey was conducted among gynecological and medical oncologists from international expert oncological centers, assessing definitions of unifocal recurrence, current postoperative chemotherapy practice after complete SCS, perceived clinical value and strength of the supporting evidence, and factors influencing decision-making. <b>Results</b>: Twenty of 48 invited experts responded (41.7%). Respondents applied different definitions of unifocal recurrence, leading to variable estimates of the annual number of patients undergoing SCS. Respondents perceived postoperative chemotherapy to have meaningful clinical value, despite rating the supporting evidence as weak. A proportion did not routinely administer postoperative chemotherapy after complete SCS, managing patients with observation alone. Decisions to omit chemotherapy were influenced by institutional, clinical, and patient-related factors. Overall, 82% of respondents considered a randomized trial comparing chemotherapy with observation clinically valuable. <b>Conclusions</b>: Clinical practice regarding postoperative chemotherapy after complete SCS for a first unifocal recurrence of EOC varies among international expert oncological centers. The absence of a uniform definition of unifocal recurrence and lack of direct evidence regarding postoperative chemotherapy omission highlight the need for standardized definitions and prospective randomized evaluation of chemotherapy versus observation.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social Status and Clinical Resource Allocation by a Large Language Model: An Evaluation of 30,618 Decisions.","authors":"Siddharth Gandhi, Michael Balas","doi":"10.3390/jpm16090448","DOIUrl":"10.3390/jpm16090448","url":null,"abstract":"<p><p><b>Objective</b>: The objective was to quantify whether demographic and social attributes that were irrelevant to stated clinical need, prognosis, and expected benefit altered resource-allocation decisions made by a general-purpose large language model (LLM). <b>Methods</b>: We conducted a cross-sectional audit of the gpt-5-chat-latest API model alias on 8 October 2025, across seven clinical vignettes, generating 30,618 forced-choice comparisons between patient profiles. Profiles varied across a full-factorial combination of eight demographic and social attributes while clinical need, prognosis, and expected benefit were held constant. Forced choices were analyzed using pooled logistic regression with separate Patient A and Patient B attribute terms and vignette-specific position effects; position-averaged odds ratios and position-balanced absolute probabilities were derived from this model. Priority-score differences were analyzed using an analogous linear model. <b>Results</b>: The model showed large position-averaged associations between non-clinical patient attributes and allocation decisions. Indigenous and Black race were associated with substantially higher odds of selection relative to White race (Indigenous: OR 16.48, 95% CI 14.85-18.28; Black: OR 8.07, 95% CI 7.32-8.90), corresponding to position-balanced absolute increases in selection probability of 30.7 and 16.3 percentage points, respectively. Conversely, high-status occupation (OR 0.064, 95% CI 0.058-0.071), friendship with institutional leadership (OR 0.121, 95% CI 0.111-0.131), and major donor status (OR 0.092, 95% CI 0.084-0.101) were associated with markedly lower odds of selection. Choice-score concordance was 95.1%. <b>Conclusions</b>: In this controlled audit, the LLM's allocation decisions varied substantially according to demographic and social characteristics despite identical stated clinical need, prognosis, and expected benefit. Although some patterns could be interpreted differently under competing ethical frameworks, their implicit and unexplained incorporation into resource-allocation decisions raises concerns regarding transparency, accountability, and clinical governance. Clinical use of LLM-based allocation support should therefore require explicit safeguards and systematic auditing for non-clinical influences.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Risk Factors for Acute and Persistent Postoperative Pediatric Pain: The 4P Prospective Observational Multicenter Study.","authors":"Johanna Broman, Niklas Nielsen, Anna K M Persson","doi":"10.3390/jpm16090450","DOIUrl":"10.3390/jpm16090450","url":null,"abstract":"<p><p><b>Background:</b> Large prospective studies on the prevalence of acute and persistent pain in children are limited, and risk factors associated with post-surgical pain in children remain unclear. <b>Objective:</b> To examine the incidence of pediatric acute (APOP) and persistent postoperative pain (PPOP) and to determine whether factors such as age, sex, preoperative anxiety/sleep disturbance, preoperative pain and parental stress are associated with increased risk. <b>Design:</b> Prospective observational multicenter study. <b>Setting:</b> Hospitals performing pediatric surgery in southern Sweden. <b>Patients:</b> 601 children aged 1-17 years planned for one of the European Society of Pediatric Anesthesia (ESPA) pre-defined surgical procedures: inguinal hernia, circumcision/hypospadias/retentio testis, adenoidectomy/tonsillectomy/tonsillotomy, appendectomy and orthopedic acute fracture surgery. <b>Main outcome measures:</b> Postoperative pain in PACU after 24 h and 3, 6 and 12 months, level and description of the pain and effect on the child. <b>Results:</b> The incidence of APOP in the postoperative care unit was 0-27%, increasing to 13-58% after 24 h depending on surgery type. The incidences of PPOP were 4-24%, 4-30%, and 0-19% at 3, 6, and 12 months, respectively, depending on surgery type. Older age was a risk factor for APOP_PACU (OR 1.2, <i>p</i> < 0.001) and APOP_24h (OR 1.3, <i>p</i> < 0.001), whereas female sex was a risk factor only for PPOP_6months (OR 2.1, <i>p</i> = 0.028). Self-reported parental stress was a significant risk factor for postoperative pain at all follow-ups, exhibiting increasing influence (APOP_24h OR 1.2, <i>p</i> = 0.001; 3_months OR 1.5, <i>p</i> < 0.001; 6_months OR 1.3, <i>p</i> < 0.001; 12_months OR 1.5, <i>p</i> < 0.001). Preoperative anxiety/sleep disturbance only affected APOP_PACU (OR 2.0, <i>p</i> = 0.008), whereas preoperative pain was not a risk factor. <b>Conclusions:</b> The incidences of APOP and PPOP were lower than in previous studies. Possible risk factors for acute pain include older age and preoperative anxiety/sleep disturbance. Only self-reported parental stress was a consistent risk factor for persistent pain.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telemedicine in Pediatric Cardiology: Current Applications, Clinical Impact, and Future Perspectives.","authors":"Luisa M Rizzo, Matilde Petz, Federico Carlini, Susanna Esposito","doi":"10.3390/jpm16090453","DOIUrl":"10.3390/jpm16090453","url":null,"abstract":"<p><p>Telemedicine is increasingly transforming pediatric cardiology by expanding access to specialized care, supporting early diagnosis, and improving longitudinal monitoring of children with cardiovascular disease. This narrative review summarizes current applications of digital health in pediatric cardiology, with emphasis on congenital heart disease, pediatric hypertension, and arrhythmia management. Tele-echocardiography represents one of the most established telehealth tools, enabling remote interpretation of fetal, neonatal, and pediatric echocardiographic images and improving referral appropriateness, particularly in peripheral or resource-limited settings. In infants with complex congenital heart disease, especially those with single-ventricle physiology during the interstage period, home monitoring programs using mobile applications, pulse oximeters, digital scales, and structured caregiver reporting may facilitate early recognition of clinical deterioration and reduce avoidable transfers. In non-congenital cardiovascular disease, home blood pressure monitoring can improve diagnostic accuracy by reducing white-coat effects and supporting repeated measurements in real-life settings. Smartphone-enabled electrocardiographic devices and wearable technologies may enhance detection of intermittent arrhythmias and strengthen outpatient management. Despite these advantages, challenges remain, including data fragmentation, limited pediatric validation of consumer devices, interoperability issues, privacy concerns, and socioeconomic disparities in technology access. Properly integrated telemedicine may promote more timely, equitable, and patient-centered pediatric cardiovascular care.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Proenkephalin in Predicting Renal Dysfunction and Mortality in Septic Patients Admitted to the Emergency Department and Intensive Care Unit: A Narrative Review.","authors":"Christos Verras, Ioannis Ventoulis, Sofia Bezati, John Parissis, Effie Polyzogopoulou","doi":"10.3390/jpm16090451","DOIUrl":"10.3390/jpm16090451","url":null,"abstract":"<p><p>Prompt diagnosis and treatment of sepsis and septic shock is crucial due to the persistently high rates of morbidity and mortality associated with the disease. Recently, research efforts have focused on identifying novel biomarkers that would detect, classify, and assess the severity of sepsis in a timely manner, thereby allowing for expeditious and precise treatment of sepsis and septic shock. Among these biomarkers, proenkephalin (PENK) has gained considerable attention. Accordingly, this narrative review aims to consolidate current evidence on the clinical utility of PENK in patients with sepsis and septic shock, with emphasis on its role as a biomarker of renal dysfunction and as a predictor of sepsis-associated acute kidney injury (AKI) and mortality in both the emergency department (ED) and intensive care unit (ICU) settings.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined Assessment of Gastrointestinal Hormones and Metabolomic Profiling Following Mixed-Meal Tolerance Tests in Patients at Increased Risk of Refeeding Syndrome: Study Protocol.","authors":"Gonçalo Nunes, Marta Guimarães, Sofia S Pereira, Ivo Mendes, Francisco Vara-Luiz, Cátia Oliveira, Marta Gonçalves, Patrícia Mendes, Rute Santos, Tânia Meira, Jorge Fonseca","doi":"10.3390/jpm16090452","DOIUrl":"10.3390/jpm16090452","url":null,"abstract":"<p><p><b>Introduction:</b> Refeeding syndrome (RS) is a life-threatening metabolic complication of nutritional support. Prolonged fasting, frequently observed in malnourished patients referred for percutaneous endoscopic gastrostomy (PEG), may induce histological and ultrastructural changes in the intestinal mucosa, potentially influencing metabolic adaptation during nutritional reintroduction. Mixed-Meal Tolerance Tests (MMTT) combined with targeted metabolic profiling allow dynamic assessment of serum glucose, gastrointestinal hormones and metabolites, which may help to elucidate the metabolic adaptations associated with fasting and refeeding. <b>Objective:</b> The present study aims to perform MMTT in PEG patients to characterize enteroendocrine hormone responses and metabolomic profiles following a prolonged period of reduced nutritional intake and subsequent enteral refeeding. <b>Methods:</b> This prospective, single-center study includes adults referred for PEG after at least one month of oral intake below 50% of energy needs. The MMTT will be performed at PEG placement and after 3-6 months of enteral nutrition. Serial blood samples will be collected from baseline up to 120 minutes post-meal to measure serum glucose, insulin, C-peptide, electrolytes and gastrointestinal hormones (GLP-1, GIP, ghrelin and PYY), and for targeted metabolomic profiling by spectroscopy. Clinical and nutritional data will be prospectively recorded. Exploratory analyses will assess metabolic and hormonal changes over time and their potential associations with relevant clinical characteristics. The study was approved by the institutional ethics committee, and patient informed consent will be obtained. <b>Conclusion:</b> This study integrates MMTT and targeted metabolomic profiling to characterize hormonal and metabolic responses during fasting and refeeding in PEG patients considered at increased risk of RS due to prolonged markedly reduced oral intake. The findings may improve understanding of metabolic adaptations associated with nutritional reintroduction and may identify candidate hormonal and metabolic signatures to support future studies on RS pathophysiology and risk assessment.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI-Enabled Digital Phenotyping for Personalized Risk Stratification in Internet Gaming Disorder: A Privacy-Preserving Simulation Study.","authors":"Athanasios Kranas, Evgenia Paxinou, Ioannis Bazakidis, Christina Koufopoulou, Petros Koufopoulos, Georgios Feretzakis, Vassilios S Verykios","doi":"10.3390/jpm16090447","DOIUrl":"10.3390/jpm16090447","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Assessment of Internet Gaming Disorder (IGD) relies on retrospective self-reports and clinical interviews, which may be affected by recall and social desirability biases and may be insensitive to behavioral change. This study evaluated an artificial intelligence (AI)-enabled, privacy-preserving digital phenotyping framework for personalized IGD risk stratification under controlled simulation assumptions. <b>Methods</b>: A synthetic dataset of 1000 virtual user profiles was generated with a 20% elevated-risk prevalence and 5% balanced stochastic label noise. Four aggregated telemetry features were modeled: average session duration, sessions per week, Late-Night Index, and application-switching rate. Random Forest, Logistic Regression, and Gradient Boosting classifiers were evaluated using a stratified 80:20 hold-out split, five-fold cross-validation, playtime-only baselines, label-noise sensitivity analysis, and 200 synthetic realizations. <b>Results</b>: The primary Random Forest model achieved a balanced accuracy of 0.850, a sensitivity of 0.800, a specificity of 0.900, an area under the receiver operating characteristic curve (ROC-AUC) of 0.909, an average precision (AP) of 0.779, and a Brier score of 0.089. As an internal consistency check under the pre-specified synthetic signal structure, all-feature models showed higher performance than playtime-only baselines, and feature importance analyses recovered the encoded signal hierarchy. Performance declined with increasing label noise. Across 200 realizations, mean ROC-AUC values for the three all-feature models ranged from 0.888 to 0.904, with overlapping empirical 95% intervals. <b>Conclusions</b>: The framework demonstrates the methodological feasibility of transforming aggregated telemetry into interpretable risk signals while avoiding content-level monitoring. These findings are hypothesis-generating and do not establish clinical validity or diagnostic performance. Longitudinal validation in clinically characterized cohorts is required before deployment.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge, Attitudes, and Perceived Barriers to Genetics and Precision Medicine Among Rural Participants in a Large Academic Biobank: A Mixed-Methods Study.","authors":"Meghan MacNeal, Nathan A Bihlmeyer, Susanne B Haga","doi":"10.3390/jpm16090446","DOIUrl":"10.3390/jpm16090446","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Rural populations remain underrepresented in genomic research and may face unique barriers to accessing genetic and precision medicine services. This study evaluated knowledge, attitudes, beliefs, and perceived barriers related to genetics and precision medicine among rural participants enrolled in OneDukeGen (ODG), a large academic biobank and precision medicine research initiative. <b>Methods:</b> This mixed-methods study included rural ODG participants identified using U.S. Census Bureau rural classification code. Participants completed an online survey assessing genetics knowledge, attitudes toward genetic testing and precision medicine, healthcare utilization, and internet use. Semi-structured interviews were conducted with a subset of survey participants to further explore perceptions of genetics research, barriers to care, privacy concerns, and educational needs. <b>Results:</b> Among 10,305 ODG participants, 3268 (31.7%) were classified as rural, representing 97 of North Carolina's 100 counties. A total of 111 rural participants completed surveys and 14 participated in qualitative interviews. Participants generally demonstrated favorable attitudes toward genetics and precision medicine despite moderate genetics knowledge scores. Most participants believed genetic testing could improve disease prevention and treatment selection, particularly for cancer care and pharmacogenomics applications. Qualitative interviews identified three major thematic domains: (1) perceived value and promise of genetics, (2) concerns regarding privacy, trust, and misuse of genetic information, and (3) barriers and facilitators to accessing genetic services. Participants generally viewed genetics research positively but expressed concerns regarding cost, insurance coverage, privacy, and genetic discrimination. <b>Conclusions:</b> Rural participants generally expressed positive attitudes toward genetics and precision medicine; however, substantial barriers related to cost, trust, privacy, awareness, and digital access remain. Community-engaged approaches emphasizing accessibility, provider education, and culturally appropriate communication may be critical for equitable implementation of precision medicine in rural communities.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"16 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}