Journal of Personalized Medicine最新文献

{"title":"A First Diastolic Function Evaluation in the Personalized Exercise Prescription Program for Solid Organs Transplanted Subjects: Is Atrial Strain Useful?","authors":"Melissa Orlandi, Marco Corsi, Vittorio Bini, Roberto Palazzo, Stefano Gitto, Claudia Fiorillo, Matteo Becatti, Marco Maglione, Laura Stefani","doi":"10.3390/jpm15010032","DOIUrl":"10.3390/jpm15010032","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Solid organ transplant recipients (OTR) have been recently involved in exercise prescription programs in order to reduce the high prevalence of cardiovascular diseases. The normal systolic and diastolic cardiac function is fundamental to personalizing the prescription. Diastolic dysfunction can be associated to a higher risk of cardiovascular events and left atrial (LA) strain is an emerging parameter in the evaluation of diastolic compromising, especially in subjects with preserved ejection fraction. Left atrial (LA) strain has never been explored in this category. The study aimed to evaluate the contribution of the LA strain in the assessment of diastolic function of OTR and its potential contribution in the exercise program. <b>Methods</b>: 54 solid OTR (liver and kidney transplants) regularly trained for at least 12 months in a home-based, partially supervised model at moderate intensity estimated by cardiopulmonary exercise test, underwent a complete echocardiographic analysis. The measured variables included left ventricle systolic function (ejection fraction, EF), diastolic function (E/A and E/E'), LA indexed volumes, LA peak atrial longitudinal strain (PALS) and LA peak atrial contraction strain (PACS). The data were compared to those of 44 healthy subjects (HS). <b>Results</b>: The OTR showed an overweight condition (BMI: 25.79 ± 2.92 vs. 22.25 ± 2.95; <i>p</i> < 0.01). Both groups showed a preserved systolic function (EF: OTR 63.1 ± 3.5% vs. HS 66.9 ± 6.1; <i>p</i> < 0.001), while diastolic standard parameters were significantly different (E/A, 1.01 ± 0.4 vs. 1.96 ± 0.74; <i>p</i> < 0.001; E/E', 9.2 ± 2.7 vs. 6.9 ± 1.3; <i>p</i> < 0.001, in OTR and HS respectively) despite being normal. LA strain was significantly lower in OTR vs. HS (4C PALS, 33.7 ± 9.7 vs. 45.4 ± 14.19; <i>p</i> < 0.001; 4C PACS, 15.9 ± 6.7 vs. 11.6 ± 7.5; <i>p</i> = 0.006; 2C PALS, 35.3 ± 11.1 vs. 47.6 ± 14.9; <i>p</i> < 0.001; 2C PALS, 17.4 ± 4.9 vs. 13.2 ± 14.97; <i>p</i> = 0.001; in OTR and HS respectively). A specific correlation of two- and four-chamber PACs and PALs with BMI has been observed (R for 4C PALS -0.406 ** and 2C PALS -0.276 *). <b>Conclusions</b>: These findings suggest that the coexistence of increased bodyweight in asymptomatic OTR patients can exacerbate the impairment of LA strains. LA strain detection could be useful in the development of a personalized exercise program for OTRs, especially for asymptomatic subjects and those with elevated cardiovascular risk profile, to potentially manage the exercise program in the long term. Larger studies will confirm the role via an eventual structured clinical score index.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033405","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":"Remote-Customized Telecontrol for Patients with Rheumatoid Arthritis: The iARPlus (Innovative Approach in Rheumatology) Initiative.","authors":"Fausto Salaffi, Sonia Farah, Eleonora Di Donato, Massimo Sonnati, Emilio Filippucci, Rossella De Angelis, Francesco Gabbrielli, Marco Di Carlo","doi":"10.3390/jpm15010030","DOIUrl":"10.3390/jpm15010030","url":null,"abstract":"<p><p><b>Objective</b>. Telecontrol approaches for rheumatoid arthritis (RA) management aim to enhance patient outcomes. This pilot study assessed whether the Rheumatoid Arthritis Impact of Disease (RAID) approach could be used during teleconsultations to monitor RA disease activity through a web-based platform called iARPlus (Innovative Approach in Rheumatology). <b>Methods</b>. Forty RA patients participated in two in-person visits (baseline and 12 months) and seven teleconsultations over 12 months, collected via the iARPlus portal and accessible through an internet browser. Disease activity, at baseline and follow-up, was measured using the Clinical Disease Activity Index (CDAI) and self-reported RAID scores throughout the study. The RAID approach, developed by the European Alliance of Associations for Rheumatology (EULAR), combines key patient-reported outcomes (PROs). <b>Results</b>. Nineteen patients (mean age: 49.3 years) were treated with Janus kinase inhibitors (JAKis), and 21 patients (mean age: 48.1 years) received adalimumab. All patients had active disease (mean CDAI 27.9 ± 4.8). Strong correlations were found between CDAI and RAID scores at baseline (ρ = 0.809, <i>p</i> < 0.0001) and at follow-up (ρ = 0.789, <i>p</i> < 0.0001). JAKi-treated patients showed greater reductions in RAID scores, pain relief, and higher rates of disease remission compared to adalimumab-treated patients. <b>Conclusions</b>. RAID scores were effective in teleconsultations for assessing RA disease activity. JAKi treatment resulted in better pain control and disease activity improvement compared to adalimumab. Further studies are needed to confirm the clinical and economic benefits of telecontrol for RA management.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033208","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":"Diagnostics and Therapeutics in Ophthalmology.","authors":"Andreas Arnold-Vangsted, Yousif Subhi","doi":"10.3390/jpm15010028","DOIUrl":"10.3390/jpm15010028","url":null,"abstract":"<p><p>Clinical research aims to answer questions that are of importance to daily clinical practice in order to improve and optimize disease diagnosis and therapy, which ultimately impacts patients' well-being [...].</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143032937","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":"A Novel CNN-Based Framework for Alzheimer's Disease Detection Using EEG Spectrogram Representations.","authors":"Konstantinos Stefanou, Katerina D Tzimourta, Christos Bellos, Georgios Stergios, Konstantinos Markoglou, Emmanouil Gionanidis, Markos G Tsipouras, Nikolaos Giannakeas, Alexandros T Tzallas, Andreas Miltiadous","doi":"10.3390/jpm15010027","DOIUrl":"10.3390/jpm15010027","url":null,"abstract":"<p><p><b>Background:</b> Alzheimer's disease (AD) is a progressive neurodegenerative disorder that poses critical challenges in global healthcare due to its increasing prevalence and severity. Diagnosing AD and other dementias, such as frontotemporal dementia (FTD), is slow and resource-intensive, underscoring the need for automated approaches. <b>Methods:</b> To address this gap, this study proposes a novel deep learning methodology for EEG classification of AD, FTD, and control (CN) signals. The approach incorporates advanced preprocessing techniques and CNN classification of FFT-based spectrograms and is evaluated using the leave-N-subjects-out validation, ensuring robust cross-subject generalizability. <b>Results:</b> The results indicate that the proposed methodology outperforms state-of-the-art machine learning and EEG-specific neural network models, achieving an accuracy of 79.45% for AD/CN classification and 80.69% for AD+FTD/CN classification. <b>Conclusions:</b> These results highlight the potential of EEG-based deep learning models for early dementia screening, enabling more efficient, scalable, and accessible diagnostic tools.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033410","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":"A Protocol for AI-Powered Tools to Enhance Mobility and Function in Older Adults: An Evidence and Gap Map.","authors":"Mirella Veras, Jordi Pardo, Mê-Linh Lê, Cindy Jussup, José Carlos Tatmatsu-Rocha, Vivian Welch","doi":"10.3390/jpm15010029","DOIUrl":"10.3390/jpm15010029","url":null,"abstract":"<p><p><b>Introduction</b>: Artificial intelligence (AI) is transforming healthcare by enhancing diagnostic accuracy, treatment, and patient monitoring, benefiting older adults by offering personalized care plans. AI-powered tools help manage chronic conditions and maintain independence, making them a valuable asset in addressing aging challenges. <b>Objectives</b>: The objectives are as follows: 1. To identify and describe AI-power-based exercise programs for older adults. 2. To highlight primary evidence gaps in AI interventions for functional improvement and mobility. 3. To evaluate the quality of existing reviews on this topic. <b>Methods</b>: The evidence gap map (EGM) will follow the five-step method, adhering to the Campbell Collaboration guidelines and, if available at the time of reporting, PRISMA-AI standards. Guided by the Metaverse Equitable Rehabilitation Therapy framework, this study will categorize findings across domains like equity, health service integration, interoperability, governance, and humanization. The study will include systematic reviews, randomized controlled trials, and pre-and post-intervention designs. <b>Results</b> will be reported following PRISMA-AI guidelines. We will use AMSTAR-2 Checklist for Analyzing Systematic Reviews on AI Interventions for Improving mobility and function in Older Adults to evaluate the reliability of systematic reviews and focus on internal validity. <b>Conclusions</b>: This comprehensive analysis will act as a critical resource for guiding future research, refining clinical interventions, and influencing policy decisions to enhance AI-driven solutions for aging populations. The EGM aims to bridge existing evidence gaps, fostering a more informed, equitable, and effective approach to AI solutions for older adults.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11767200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143032266","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":"Intraoperative Monitoring of Sensory Evoked Potentials in Neurosurgery: A Personalized Approach.","authors":"Evgeny A Levin","doi":"10.3390/jpm15010026","DOIUrl":"10.3390/jpm15010026","url":null,"abstract":"<p><p>Sensory evoked potentials (EPs), namely, somatosensory, visual, and brainstem acoustic EPs, are used in neurosurgery to monitor the corresponding functions with the aim of preventing iatrogenic neurological complications. Functional deficiency usually precedes structural defect, being initially reversible, and prompt alarms may help surgeons achieve this aim. However, sensory EP registration requires presenting multiple stimuli and averaging of responses, which significantly lengthen this procedure. As delays can make intraoperative neuromonitoring (IONM) ineffective, it is important to reduce EP recording time. The possibility of speeding up EP recording relies on differences between IONM and outpatient clinical neurophysiology (CN). Namely, in IONM, the patient is her/his own control, and the neurophysiologist is less constrained by norms and standards than in outpatient CN. Therefore, neurophysiologists can perform a personalized selection of optimal locations of recording electrodes, frequency filter passbands, and stimulation rates. Varying some or all of these parameters, it is often possible to significantly improve the signal-to-noise ratio (SNR) for EPs and accelerate EP recording by up to several times. The aim of this paper is to review how this personalized approach is or may be applied during IONM for recording sensory EPs of each of the abovementioned modalities. Also, the problems hindering the implementation and dissemination of this approach and options for overcoming them are discussed here, as well as possible future developments.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033138","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":"A Mediation Appraisal of Neuropathic-like Symptoms, Pain Catastrophizing, and Central Sensitization-Related Signs in Adults with Knee Osteoarthritis-A Cross-Sectional Study.","authors":"Fausto Salaffi, Marina Carotti, Sonia Farah, Carlo Ciccullo, Antonio Pompilio Gigante, Francesca Bandinelli, Marco Di Carlo","doi":"10.3390/jpm15010022","DOIUrl":"10.3390/jpm15010022","url":null,"abstract":"<p><p><b>Objective.</b> To investigate the relationships among neuropathic pain (NP), pain catastrophizing (PC), and central sensitization (CS) in relation to functional status and radiological damage in patients with knee osteoarthritis (OA). <b>Methods.</b> This cross-sectional study included knee OA patients derived from an observational cohort. The Spearman correlation test was used to analyze the relationship between the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and the PainDetect Questionnaire (PDQ), Central Sensitization Inventory (CSI), and Pain Catastrophizing Scale (PCS). The Kruskal-Wallis test was employed to compare WOMAC scores according to CSI categories. A multivariate analysis was conducted to identify predictors of functional ability, with the WOMAC score as the dependent variable and the independent variables including pain-related indices such as PCS, PDQ, and CSI, along with Kellgren-Lawrence (K-L) grading and demographic characteristics. <b>Results.</b> This study included 149 patients (76.5% female; mean age 71.5 years; mean duration of pain 8.1 years). In total, 23.5% exhibited NP, 30.9% showed PC, and 33.6% had CS. Higher mean values of WOMAC were correlated with CSI categories (<i>p</i> < 0.0001). WOMAC showed a significant relationship with CSI (rho = 0.791; <i>p</i> < 0.0001), PDQ (rho = 0.766; <i>p</i> < 0.0001), and PCS (rho = 0.536; <i>p</i> < 0.0001). In the multiple regression analysis, WOMAC was independently associated with CSI (<i>p</i> < 0.0001), PDQ (<i>p</i> < 0.0001), and PC (<i>p</i> = 0.0001). No association was observed between the K-L grading and the other variables. <b>Conclusions.</b> A reduced functional capacity in patients with knee OA is correlated with the presence of NP, PC and CS, without being significantly associated with radiological damage.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11767182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033407","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":"Assessing the TNM Classification for Periprosthetic Joint Infections of the Knee: Predictive Validity for Functional and Subjective Outcomes.","authors":"Arne Kienzle, Sandy Walter, Paul Köhli, Clemens Gwinner, Sebastian Hardt, Michael Müller, Carsten Perka, Stefanie Donner","doi":"10.3390/jpm15010024","DOIUrl":"10.3390/jpm15010024","url":null,"abstract":"<p><p><b>Background:</b> Periprosthetic joint infection (PJI) following knee arthroplasty can significantly compromise patient mobility and quality of life. The newly proposed TNM classification system, adapted from oncology, categorizes PJI severity but has not yet been correlated with both subjective and objective outcomes post PJI treatment. <b>Objective:</b> This study evaluates the applicability of the TNM classification system for predicting outcomes in knee PJI revision surgeries. <b>Methods:</b> We conducted a retrospective analysis of 108 patients who underwent revision surgeries for knee PJI at our institution from January 2012 to January 2023. We assessed the correlation between the TNM classification and postoperative outcomes using the Knee Society Score (KSS) function and knee score, as well as the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). <b>Results:</b> The TNM classification demonstrated that higher 'T' stages were significantly associated with worse functional and subjective outcomes. The 'N' classification had limited predictive value, likely due to treatment adjustments based on pathogen type. The 'M' classification correlated with functional outcomes but not with subjective scores, suggesting that patients with more severe preoperative comorbidities might adjust their expectations. <b>Conclusions:</b> While the TNM classification shows potential, its current form as a prognostic tool in PJI management is limited. Enhancing the 'T' component, coupled with the integration of a validated morbidity score such as the CCI could improve its prognostic value. Despite its shortcomings, the TNM system may still provide valuable prognostic insights for both patients and surgeons in tackling complex PJI.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11767148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143032692","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":"Prostatic Artery Embolization in Elderly Comorbid Patients with Benign Prostatic Hyperplasia: Safety, Efficacy, and Predictive Factors of Clinical Failure.","authors":"Federico Zorzi, Giulio Rossin, Michelangelo Digregorio, Simone Lavecchia, Andrea Piasentin, Fabio Traunero, Carmelo Morreale, Michele Rizzo, Tommaso Cai, Carlo Trombetta, Alessandro Zucchi, Giovanni Liguori","doi":"10.3390/jpm15010023","DOIUrl":"10.3390/jpm15010023","url":null,"abstract":"<p><p><b>Background</b>: This study aims to evaluate the safety and efficacy of prostatic artery embolization (PAE) in elderly, multimorbid patients with benign prostatic hyperplasia (BPH). Additionally, it seeks to identify technical and clinical factors that predict clinical failure at the mid-term follow-up. <b>Methods</b>: We analyzed the clinical records of 175 consecutive patients who underwent PAE. Technical success was defined as achieving embolization on at least one side. Safety was assessed using the Clavien-Dindo classification. The pre-procedural international prostate symptom score (IPSS), quality of life (QoL) score, prostate volume (PV), prostate-specific antigen (PSA), maximum urinary flow rate (Qmax), and post-void residual urine (PVR) were compared with values assessed at the follow-up evaluation. Clinical failure was defined as no improvement or worsening of lower urinary tract symptoms (LUTS) based on the IPSS at the follow-up evaluation. Univariate and multivariate regression models were applied to identify predictors of clinical failure. <b>Results</b>: 158 patients met the inclusion criteria. The median age was 74 years (68, 79), with a median ASA score of 2 (2, 3) and a Charlson comorbidity index (CCI) of 5 (4, 7). Follow-up assessments were carried out at a median of 12 months (0, 1). IPSS decreased by -5 points (-8, 0), QoL by -1 point (-1, 0), PV by -19 cc (-26, -8), PVR by -45 cc (-25 to -80), and PSA by -1.1 ng/mL (-2.5, -0.2) (<i>p</i> < 0.01); while Qmax improved by 4 mL/s (2, 6) (<i>p</i> < 0.01). A total of 44 patients (30.3%) experienced clinical failure, which was significantly correlated with unilateral embolization (<i>p</i> < 0.01). Multivariate regression analysis indicated that higher CCI, elevated PVR, and the use of larger microspheres were associated with poorer clinical outcomes, with odds ratios of 2.17 (95% CI: 1.4-3.38), 1.02 (95% CI: 1.01-1.03), and 26.83 (95% CI: 4.81-149.8), respectively (<i>p</i> < 0.01). <b>Conclusions</b>: PAE is a safe and effective treatment for elderly multimorbid patients with BPH. Comprehensive pre-procedural clinical assessment, incorporating the CCI and PVR, is essential to optimize treatment outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11767102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033272","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":"Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.","authors":"Mario Cesare Nurchis, Gerardo Altamura, Gian Marco Raspolini, Enrico Capobianco, Luca Salmasi, Gianfranco Damiani","doi":"10.3390/jpm15010025","DOIUrl":"10.3390/jpm15010025","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Next-generation sequencing (NGS) can explain how genetics influence morbidity and mortality in children. However, it is unclear whether health providers will perceive and use such treatments. We conducted a discrete choice experiment (DCE) to understand Italian health professionals' preferences for NGS to improve the diagnosis of paediatric genetic diseases. <b>Methods:</b> The DCE was administered online to 125 health professionals in Italy. We documented attributes influencing professionals' decisions of NGS, including higher diagnostic yield, shorter counselling periods, cost, turnaround time, and the identification of fewer variants of unknown significance. <b>Results:</b> Results show that factors such as higher diagnostic yield, shorter counselling periods, lower costs, and faster turnaround times positively influenced the adoption of NGS tests. Willingness to pay (WTP) estimates varied from EUR 387 (95% CI, 271.8-502.9) for 7% increase in the diagnostic yield to EUR 469 (95% CI, 287.2-744.9) for a decrease of one week in the turnaround time. Responders would reduce diagnostic yield by 7% to decrease the turnaround time by one week in both the preference and the willingness to trade (WTT) spaces. Respondents prioritised diagnostic yield (RI = 50.36%; 95% CI 40.2-67.2%) compared to other attributes. <b>Conclusions:</b> therefore, health professionals value NGS for allowing earlier, more accurate genetic diagnoses.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11766785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033047","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}