Category: Statistics

J Med Internet Res. 2025 Jan 13;27:e57619. doi: 10.2196/57619.

ABSTRACT

BACKGROUND: Improving adherence to pre-exposure prophylaxis (PrEP) via digital health interventions (DHIs) for young sexual and gender minority men who have sex with men (YSGMMSM) is promising for reducing the HIV burden. Measuring and achieving effective engagement (sufficient to solicit PrEP adherence) in YSGMMSM is challenging.

OBJECTIVE: This study is a secondary analysis of the primary efficacy randomized controlled trial (RCT) of Prepared, Protected, Empowered (P3), a digital PrEP adherence intervention that used causal mediation to quantify whether and to what extent intrapersonal behavioral, mental health, and sociodemographic measures were related to effective engagement for PrEP adherence in YSGMMSM.

METHODS: In May 2019, 264 YSGMMSM were recruited for the primary RCT via social media, community sites, and clinics from 9 study sites across the United States. For this secondary analysis, 140 participants were eligible (retained at follow-up, received DHI condition in primary RCT, and completed trial data). Participants earned US currency for daily use of P3 and lost US currency for nonuse. Dollars accrued at the 3-month follow-up were used to measure engagement. PrEP nonadherence was defined as blood serum concentrations of tenofovir-diphosphate and emtricitabine-triphosphate that correlated with ≤4 doses weekly at the 3-month follow-up. Logistic regression was used to estimate the total effect of baseline intrapersonal measures on PrEP nonadherence, represented as odds ratios (ORs) with a null value of 1. The total OR for each intrapersonal measure was decomposed into direct and indirect effects.

RESULTS: For every US $1 earned above the mean (US $96, SD US $35.1), participants had 2% (OR 0.98, 95% CI 0.97-0.99) lower odds of PrEP nonadherence. Frequently using phone apps to track health information was associated with a 71% (OR 0.29, 95% CI 0.06-0.96) lower odds of PrEP nonadherence. This was overwhelmingly a direct effect, not mediated by engagement, with a percentage mediated (PM) of 1%. Non-Hispanic White participants had 83% lower odds of PrEP nonadherence (OR 0.17, 95% CI 0.05-0.48) and had a direct effect (PM=4%). Participants with depressive symptoms and anxiety symptoms had 3.4 (OR 3.42, 95% CI 0.95-12) and 3.5 (OR 3.51, 95% CI 1.06-11.55) times higher odds of PrEP nonadherence, respectively. Anxious symptoms largely operated through P3 engagement (PM=51%).

CONCLUSIONS: P3 engagement (dollars accrued) was strongly related to lower odds of PrEP nonadherence. Intrapersonal measures operating through P3 engagement (indirect effect, eg, anxious symptoms) suggest possible pathways to improve PrEP adherence DHI efficacy in YSGMMSM via effective engagement. Conversely, the direct effects observed in this study may reflect existing structural disparity (eg, race and ethnicity) or behavioral dispositions toward technology (eg, tracking health via phone apps). Evaluating effective engagement in DHIs with causal mediation approaches provides a clarifying and mechanistic view of how DHIs impact health behavior.

TRIAL REGISTRATION: ClinicalTrials.gov; NCT03320512; https://clinicaltrials.gov/study/NCT03320512.

PMID:39804696 | DOI:10.2196/57619

J Med Internet Res. 2025 Jan 13;27:e63004. doi: 10.2196/63004.

ABSTRACT

BACKGROUND: Digital biomarkers are increasingly used in clinical decision support for various health conditions. Speech features as digital biomarkers can offer insights into underlying physiological processes due to the complexity of speech production. This process involves respiration, phonation, articulation, and resonance, all of which rely on specific motor systems for the preparation and execution of speech. Deficits in any of these systems can cause changes in speech signal patterns. Increasing efforts are being made to develop speech-based clinical decision support systems.

OBJECTIVE: This systematic scoping review investigated the technological revolution and recent digital clinical speech signal analysis trends to understand the key concepts and research processes from clinical and technical perspectives.

METHODS: A systematic scoping review was undertaken in 6 databases guided by a set of research questions. Articles that focused on speech signal analysis for clinical decision-making were identified, and the included studies were analyzed quantitatively. A narrower scope of studies investigating neurological diseases were analyzed using qualitative content analysis.

RESULTS: A total of 389 articles met the initial eligibility criteria, of which 72 (18.5%) that focused on neurological diseases were included in the qualitative analysis. In the included studies, Parkinson disease, Alzheimer disease, and cognitive disorders were the most frequently investigated conditions. The literature explored the potential of speech feature analysis in diagnosis, differentiating between, assessing the severity and monitoring the treatment of neurological conditions. The common speech tasks used were sustained phonations, diadochokinetic tasks, reading tasks, activity-based tasks, picture descriptions, and prompted speech tasks. From these tasks, conventional speech features (such as fundamental frequency, jitter, and shimmer), advanced digital signal processing-based speech features (such as wavelet transformation-based features), and spectrograms in the form of audio images were analyzed. Traditional machine learning and deep learning approaches were used to build predictive models, whereas statistical analysis assessed variable relationships and reliability of speech features. Model evaluations primarily focused on analytical validations. A significant research gap was identified: the need for a structured research process to guide studies toward potential technological intervention in clinical settings. To address this, a research framework was proposed that adapts a design science research methodology to guide research studies systematically.

CONCLUSIONS: The findings highlight how data science techniques can enhance speech signal analysis to support clinical decision-making. By combining knowledge from clinical practice, speech science, and data science within a structured research framework, future research may achieve greater clinical relevance.

PMID:39804693 | DOI:10.2196/63004

JMIR Public Health Surveill. 2025 Jan 13;11:e64564. doi: 10.2196/64564.

ABSTRACT

BACKGROUND: The effects of physical activity (PA) across different domains and intensities on depressive symptoms remain inconclusive. Incorporating the community-built environment (CBE) into longitudinal analyses of PA’s impact on depressive symptoms is crucial.

OBJECTIVE: This study aims to examine the effects of PA at different intensities-low-intensity PA (eg, walking activities) and moderate-to-vigorous-intensity PA (eg, activities requiring substantial effort and causing faster breathing or shortness of breath)-across leisure-time and occupational domains on depressive symptom trajectories among middle-aged and older adults. Additionally, it investigated how CBEs influence depressive symptoms and PA trajectories.

METHODS: This longitudinal study included 6865 middle-aged and older adults from the China Health and Retirement Longitudinal Survey. A CBE variable system was developed using a community questionnaire to assess attributes of the physical built environment. Depressive symptoms were measured using the Center for Epidemiologic Studies Depression Scale. Latent growth curve modeling was applied to analyze 3 waves of the cohort data (2015, 2018, and 2020) to explore the differential effects of PA on depressive symptoms and the role of the CBE.

RESULTS: In the 2015 and 2018 waves, higher low-intensity leisure-time physical activity (LTPA) was associated with lower depressive symptoms (β=-.025, P=.01 and β=-.027, P=.005, respectively). Across all waves, moderate-to-vigorous-intensity LTPA showed no significant predictive effects (P=.21 in 2015, P=.57 in 2018, and P=.85 in 2020, respectively). However, higher occupational physical activity (OPA), particularly at moderate-to-vigorous intensities, was consistently associated with higher depressive symptoms. Parallel process latent growth curve modeling revealed that the initial level of total LTPA negatively predicted the initial level of depressive symptoms (β=-.076, P=.01). OPA exhibited dual effects, positively predicting the initial level of depressive symptoms (β=.108, P<.001) but negatively predicting their upward trajectory (β=-.136, P=.009). Among CBE variables, better infrastructure conditions (β=-.082, P<.001) and greater accessibility to public facilities (β=-.036, P=.045) negatively predicted the initial level of depressive symptoms. However, greater accessibility to public facilities positively predicted the upward trajectory of depressive symptoms (β=.083, P=.04). Better infrastructure conditions (β=.100, P=.002) and greater accessibility to public transport (β=.060, P=.01) positively predicted the initial level of total LTPA. Meanwhile, better infrastructure conditions (β=-.281, P<.001) and greater accessibility to public facilities (β=-.073, P<.001) negatively predicted the initial level of total OPA. Better infrastructure conditions positively predicted the declining trajectory of total OPA (β=.100, P=.004).

CONCLUSIONS: This study underscores the importance of considering the differential effects of PA across domains and intensities on depressive symptoms in public policies and guidelines. Given the influence of the environment on PA and depressive symptoms, targeted community measures should be implemented.

PMID:39804686 | DOI:10.2196/64564

Games Health J. 2025 Jan 13. doi: 10.1089/g4h.2024.0192. Online ahead of print.

ABSTRACT

Due to the exponential growth in technology, exergames emerged as a potential tool to foster physical activity (PA) levels. This study provides an overall view of the literature on the effects of exergaming on physical fitness components among overweight and obese children and adolescents. A systematic review and meta-analysis following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was performed in the PubMed, Web of Science, and Scopus databases. Among the 618 articles identified at the first screening stage, 17 were retained for analysis. The results indicate positive effects of exergaming interventions in body composition outcomes, cardiorespiratory fitness, muscular strength, and skills performance. Results from the randomized studies with the control group revealed significant effects of exergames in decreasing body mass index (mean difference = 0.24; 95% confidence interval [CI]: 0.06 to 0.43, P = 0.01) and increasing cardiorespiratory fitness (Hedges’s g = 0.28; 95% CI: 0.09 to 0.46, P = 0.00). Although not statistically significant, participants submitted to exergames interventions also showed decreased body weight compared to their control peers. The results emphasize the ability of exergames to enhance PA levels and physical fitness components, which might influence the health status of overweight and obese youth. However, due to the limited number of studies included in the meta-analysis (n = 4), future randomized controlled experiments are still needed to improve the understanding of the impact of exergames interventions on physical fitness.

PMID:39804680 | DOI:10.1089/g4h.2024.0192

Diabetes. 2025 Jan 13:db240841. doi: 10.2337/db24-0841. Online ahead of print.

ABSTRACT

Clonal haematopoiesis of indeterminate potential (CHIP) is associated with macrovascular diseases, including coronary artery disease and stroke. However, the effects of CHIP on microvascular complication have not been evaluated in individuals with type 2 diabetes (T2D). This study included 20,712 T2D participants without prevalent diabetic microvascular complication (DMCs) and hematologic malignancy at baseline. CHIP and related phenotypes were identified using whole exome sequencing derived from peripheral blood samples. The incidence of DMCs defined as a composite of diabetic kidney disease, diabetic retinopathy, or diabetic neuropathy. Associations of any CHIP with incident DMCs and subtypes were assessed using Cox regression. Gene-specific analyses also conducted to determine the effect of mutated driver genes with DMCs. During a median follow-up of 13.0 years, 5,673 participants developed DMCs. Any CHIP was associated with high risk of DMCs (HR, 1.23; 95% CI, 1.10-1.38; P<0.001), specifically, diabetic retinopathy (HR, 1.34; 95% CI, 1.13-1.57; P=0.001) and diabetic kidney disease (HR, 1.26; 95% CI, 1.10-1.45; P=0.001), but not diabetic neuropathy. Gene-specific analyses suggested that DNMT3A, TET2, NF1, and Spliceosome genes were associated with risk of developing DMCs. CHIP increases the risk of developing DMCs in individuals with T2D, independently of other risk factors. These findings offered potential implications for the prevention and management of DMCs.

PMID:39804667 | DOI:10.2337/db24-0841

Transl Vis Sci Technol. 2025 Jan 2;14(1):12. doi: 10.1167/tvst.14.1.12.

ABSTRACT

PURPOSE: To compare a novel high-resolution optical coherence tomography (OCT) with improved axial resolution (High-Res OCT) with conventional spectral-domain OCT (SD-OCT) with regard to their capacity to characterize the disorganization of the retinal inner layers (DRIL) in diabetic maculopathy.

METHODS: Diabetic patients underwent multimodal retinal imaging (SD-OCT, High-Res OCT, and color fundus photography). Best-corrected visual acuity and diabetes characteristics were recorded. DR was graded using the international clinical diabetic retinopathy severity scale (DRSS). In each OCT B-scan, retinal layers were segmented and the loss of discernibility was annotated. DRIL areas were analyzed in en face projection using FIJI plugins. The Wilcoxon test and regression models were used for statistical analysis.

RESULTS: In 93 eyes of 93 patients (mean age, 61.8 ± 12.9 years) DRIL was identified in 48 eyes. DRIL was most frequent in the central subfield (27%). In DRIL eyes, DRSS was significantly higher (4.43 ± 1.01 vs. 2.12 ± 1.66; P < 0.001), BCVA was significantly worse (0.34 ± 0.38 vs. 0.13 ± 0.22; P < 0.001), and the loss of discernibility of the individual inner retinal layers was significantly smaller in High-Res OCT compared with SD-OCT (0.21 ± 0.29 vs. 1.21 ± 1.21 mm2; P < 0.001). The discernibility loss was greatest in the retinal nerve fiber layer and ganglion cell layer.

CONCLUSIONS: DRIL occurs in eyes with advanced diabetic retinopathy, with a characteristic spread: from the inner toward the outer retina. High-Res OCT shows significantly smaller DRIL areas compared with SD-OCT, because of a more precise delineation of the inner retinal layers.

TRANSLATIONAL RELEVANCE: Using OCT with increased axial resolution could enhance our understanding of DRIL development and progression, providing deeper insights into pathophysiological aspects, including malperfusion in the inner capillary plexus.

PMID:39804658 | DOI:10.1167/tvst.14.1.12

JAMA Pediatr. 2025 Jan 13. doi: 10.1001/jamapediatrics.2024.5466. Online ahead of print.

ABSTRACT

IMPORTANCE: Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening complication of COVID-19 infection. Data on midterm outcomes are limited.

OBJECTIVE: To characterize the frequency and time course of cardiac dysfunction (left ventricular ejection fraction [LVEF] <55%), coronary artery aneurysms (z score ≥2.5), and noncardiac involvement through 6 months after MIS-C.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study enrolled participants between March 2020 and January 2022 with a follow-up period of 2 years. Participants were recruited from 32 North American pediatric hospitals, and all participants met the 2020 Centers for Disease Control and Prevention case definition of MIS-C.

EXPOSURE: MIS-C after COVID-19 infection.

MAIN OUTCOMES AND MEASURES: Outcomes included echocardiography core laboratory (ECL) assessments of LVEF and maximum coronary artery z scores (zMax); data collection on cardiac and noncardiac sequelae during hospitalization and at 2 weeks, 6 weeks, and 6 months after discharge; and age-appropriate Patient-Reported Outcomes Measurement Information Systems (PROMIS) Global Health Instruments at follow-up. Descriptive statistics, linear regression models, and Kaplan-Meier analysis were used.

RESULTS: Of 1204 participants (median [IQR] age, 9.1 [5.6-12.7] years; 724 male [60.1%]), 325 self-identified with non-Hispanic Black race (27.0%) and 324 with Hispanic ethnicity (26.9%). A total of 548 of 1195 participants (45.9%) required vasoactive support, 17 of 1195 (1.4%) required extracorporeal membrane oxygenation, and 3 (0.3%) died during hospitalization. Of participants with echocardiograms reviewed by the ECL (n = 349 due to budget constraints), 131 of 322 (42.3%) had LVEF less than 55% during hospitalization; of those with follow-up, all but 1 normalized by 6 months. Black race (vs other/unknown race), higher C-reactive protein level, and abnormal troponin level were associated with lowest LVEF (estimate [SE], -3.09 [0.98]; R2 = 0.14; P =.002). Fifteen participants had coronary artery z scores of 2.5 or greater at any time point; 1 participant had a large/giant aneurysm. Of the 13 participants with z scores of 2.5 or greater during hospitalization, 12 (92.3%) had normalized by 6 months. Return to greater than 90% of pre-MIS-C health status (energy, sleep, appetite, cognition, and mood) was reported by 711 of 824 participants (86.3%) at 2 weeks, increasing to 548 of 576 (95.1%) at 6 months. Fatigue was the most common symptom reported at 2 weeks (141 of 889 [15.9%]), falling to 3.4% (22 of 638) by 6 months. PROMIS Global Health parent/guardian proxy median T scores for fatigue, global health, and pain interference improved significantly from 2 weeks to 6 months (fatigue, 56.1 vs 48.9; global health, 48.8 vs 51.3; pain interference, 53.0 vs 43.3; P < .001) and by the 6-week visit were at least equivalent to prepandemic population norms.

CONCLUSIONS AND RELEVANCE: Results of this cohort study suggest that although children and young adults with MIS-C can have severe disease during the acute phase, most recovered quickly and had a reassuring midterm prognosis.

PMID:39804656 | DOI:10.1001/jamapediatrics.2024.5466

JAMA Netw Open. 2025 Jan 2;8(1):e2453987. doi: 10.1001/jamanetworkopen.2024.53987.

ABSTRACT

IMPORTANCE: Cardiovascular health outcomes associated with noncigarette tobacco products (cigar, pipe, and smokeless tobacco) remain unclear, yet such data are required for evidence-based regulation.

OBJECTIVE: To investigate the association of noncigarette tobacco products with cardiovascular health outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study was conducted within the Cross Cohort Collaboration Tobacco Working Group by harmonizing tobacco-related data and conducting a pooled analysis from 15 US-based prospective cohorts with data on the use of at least 1 noncigarette tobacco product ranging between 1948 and 2015. The analysis for this study was conducted between September 2023 and February 2024. The median (IQR) follow-up time for the all-cause mortality outcome was 13.8 (10.2-19.2) years.

EXPOSURE: Current, sole, and exclusive use of noncigarette tobacco products. Sole use refers to using a noncigarette tobacco product without currently smoking cigarettes. Exclusive use means using only the noncigarette tobacco product and never having smoked cigarettes.

MAIN OUTCOMES AND MEASURES: Myocardial infarction, stroke, heart failure, atrial fibrillation, total coronary heart disease, total cardiovascular disease (CVD), coronary heart disease mortality, CVD mortality, and all-cause mortality.

RESULTS: Of 103 642 participants (mean [SD] age, 55.7 [13.2] years; 49 550 female [47.8%] and 54 092 male [52.2%]), current use rates were 26 962 participants (26.3%) for cigarettes, 1147 participants (2.1%) for cigars, 530 participants (1.2%) for pipes, and 1410 participants (2.1%) for smokeless tobacco. Current cigar use was associated with stroke (hazard ratio [HR], 1.25; 95% CI, 1.01-1.55), atrial fibrillation (HR, 1.32; 95% CI, 1.13-1.53), and heart failure (HR, 1.29; 95% CI, 1.10-1.51) compared with never using cigars in the model adjusted for demographic and socioeconomic factors, cardiovascular risk factors, and cohort. Sole (HR, 1.34; 95% CI, 1.12-1.62) and exclusive (HR, 1.53; 95% CI, 1.20-1.96) cigar use was associated with stroke compared with never using cigars or cigarettes. Current pipe use was associated with heart failure (HR, 1.23; 95% CI, 1.01-1.49) compared with never using pipes, and sole pipe use was associated with myocardial infarction (HR, 1.43; 95% CI, 1.17-1.74) compared with never using pipes or cigarettes. Current use of smokeless tobacco was associated with coronary heart disease mortality (HR, 1.31; 95% CI, 1.08-1.59) and myocardial infarction (HR, 1.20; 95% CI, 1.03-1.39) compared with never using smokeless tobacco. Sole and exclusive smokeless tobacco use demonstrated associations with total CVD (HR, 1.34; 95% CI, 1.19-1.50 and HR, 1.34; 955 CI, 1.13-1.59, respectively), total coronary heart disease (HR, 1.41; 95% CI, 1.21-1.64 and HR, 1.36; 95% CI, 1.08-1.70, respectively), heart failure (HR, 1.41; 95% CI, 1.22-1.64 and HR, 1.70; 95% CI, 1.40-2.06, respectively), and cardiovascular (HR, 1.41; 95% CI, 1.20-1.65 and HR, 1.54; 95% CI, 1.24-1.91, respectively) and all-cause (HR, 1.46; 95% CI, 1.34-1.60 and HR, 1.39; 95% CI, 1.22-1.58, respectively) mortality compared with never using smokeless tobacco or cigarettes.

CONCLUSIONS AND RELEVANCE: In this study, there were distinct risk patterns associated with the use of noncigarette tobacco products. These findings may carry implications for public health and regulation of noncigarette tobacco products.

PMID:39804647 | DOI:10.1001/jamanetworkopen.2024.53987

JAMA Netw Open. 2025 Jan 2;8(1):e2454253. doi: 10.1001/jamanetworkopen.2024.54253.

ABSTRACT

IMPORTANCE: The open-label randomized phase 2 LACOG0415 trial evaluated 3 treatment strategies for patients with advanced castration-sensitive prostate cancer (CSPC): androgen deprivation therapy (ADT) plus abiraterone acetate and prednisone (AAP), apalutamide (APA) alone, or APA plus AAP.

OBJECTIVE: To investigate the association of ADT plus AAP, APA alone, or APA plus AAP with health-related quality of life (HRQOL) in patients with advanced CSPC in the LACOG0415 trial.

DESIGN, SETTING, AND PARTICIPANTS: The LACOG0415 randomized clinical trial comprised 128 patients with advanced CSPC who were randomized (1:1:1) to 1 of 3 treatment arms from October 16, 2017, to April 23, 2019. Statistical analysis was conducted from March to September 2022.

INTERVENTIONS: Patients were randomized (1:1:1) to 1 of 3 treatment arms: ADT plus AAP, APA alone, or APA plus AAP.

MAIN OUTCOMES AND MEASURES: Health-related quality of life was evaluated using the Functional Assessment of Cancer Therapy-Prostate (FACT-P) questionnaire, including its subscales, completed at baseline and every 4 weeks until week 25. FACT-P scores range from 0 to 156, and higher scores indicate better HRQOL. Mean changes in score from baseline to week 25 were adjusted by baseline score and were calculated to evaluate whether there was a difference according to the treatment arm using a mixed-effect model for repeated measures. Time to deterioration was estimated by Kaplan-Meier curves and compared by stratified log-rank test. Analysis was performed on an intention-to-treat basis.

RESULTS: A total of 128 patients with advanced CSPC were randomized to receive ADT plus AAP (n = 42; median age, 69.8 years [IQR, 58.9-71.6 years]), APA alone (n = 42; median age, 69.5 years [IQR, 59.8-72.6 years]), or APA plus AAP (n = 44; median age, 71.0 years [IQR, 63.0-72.3 years]). Metastatic disease was present in 95 patients (74.2%), high-risk biochemical recurrence disease in 22 (17.2%), and locally advanced disease in 11 (8.6%). There was no significant difference in baseline mean (SD) FACT-P total scores and subscales among the 3 treatment arms (FACT-P total score: ADT plus AAP arm, 118.5 [24.3]; APA alone arm, 116.1 [23.9]; AAP plus APA arm, 114.9 [18.1]; P = .69). Health-related quality of life was maintained during treatment period, and there were no statistically significant differences at 25 weeks in mean (SD) FACT-P total scores or subscales between treatment arms (FACT-P total score: ADT plus AAP arm, 122.3 [20.4]; APA alone arm, 119.5 [16.4]; AAP plus APA arm, 119.9 [20.3]). The APA alone and AAP plus APA arms were not associated with meaningful improvements in HRQOL compared with the ADT plus AAP arm, except in time to deterioration of the emotional well-being score, which was more favorable in the APA alone arm (reference arm: ADT plus AAP arm; APA alone arm: hazard ratio, 0.37 [0.15-0.85]; P = .02; ADT plus AAP arm: hazard ratio, 0.56 [0.26-1.19]; P = .13). Limitations include short follow-up period and the absence of other questionnaires to capture differences between therapies.

CONCLUSIONS AND RELEVANCE: In this prespecified secondary analysis of a randomized clinical trial of ADT plus AAP, APA alone, or APA plus AAP for patients with advanced CSPC, HRQOL was not statistically different between treatments with APA alone or APA plus AAP as compared with ADT plus AAP. Larger studies with longer follow-up and more specific questionnaires are needed to further evaluate HRQOL with these treatment strategies.

TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02867020.

PMID:39804646 | DOI:10.1001/jamanetworkopen.2024.54253

JAMA Netw Open. 2025 Jan 2;8(1):e2454447. doi: 10.1001/jamanetworkopen.2024.54447.

ABSTRACT

IMPORTANCE: Enhanced breast cancer screening with magnetic resonance imaging (MRI) is recommended to women with elevated risk of breast cancer, yet uptake of screening remains unclear after genetic testing.

OBJECTIVE: To evaluate uptake of MRI after genetic results disclosure and counseling.

DESIGN, SETTING, AND PARTICIPANTS: This multicenter cohort study was conducted at the University of Southern California Norris Cancer Hospital, the Los Angeles General Medical Center, and the Stanford University Cancer Institute. Patients were recruited from July 1, 2014, through November 30, 2016. Following multiplex gene panel testing and genetic counseling, patients responded to surveys about breast MRI screening at 3, 6, 12, and 24 months and to a final survey between 3 and 4 years after counseling. Participants met standard clinical criteria for genetic testing or had a 2.5% or greater probability of inherited cancer susceptibility. Patients were categorized based on breast cancer risk from genetic testing results and Tyrer-Cuzick model-calculated risk as having (1) a BRCA or other high-risk pathogenic variant (PV), (2) a moderate-risk PV, (3) a higher lifetime breast cancer risk (≥20%), or (4) a lower lifetime breast cancer risk (<20%). Analysis was conducted from September 28 to November 9, 2023.

INTERVENTIONS: Genetic testing with a 25- or 28-gene panel, and pretest and posttest genetic counseling by a genetic counselor or an advanced practice genetics nurse practitioner, which included cancer-specific screening recommendations.

MAIN OUTCOMES AND MEASURES: MRI screening adherence over time across risk groups was estimated using Cox proportional hazards regression modeling. Likelihood of screening adherence (odds ratios [ORs] with 95% CIs), controlling for potential confounders, was estimated using logistic regression.

RESULTS: This study included 638 patients, with a mean (SD) age of 50.7 (13.3) years at testing. There were 43 patients (6.7%) with a BRCA or other high-risk PV, 16 (2.5%) with a moderate-risk PV, 146 (22.9%) with higher lifetime breast cancer risk, and 433 (67.9%) with lower lifetime breast cancer risk. A total of 52 patients (8.2%) identified as Asian, 21 (3.3%) as Black, 271 (42.5%) as Hispanic, and 255 (40.0) as White. Compared with patients with lower lifetime breast cancer risk, patients with a BRCA or other high-risk PV and those with a moderate-risk PV were approximately 10 times (OR, 9.81 [95% CI, 4.05-23.86]; P < .001) and 4 times (OR, 4.12 [95% CI, 1.10-14.35]; P = .03) as likely to undergo MRI, respectively. Patients with a BRCA or other high-risk PV were nearly 16 times (OR, 15.81 [95% CI, 5.17-48.31]) as likely to report consistent yearly MRI screening compared with patients with lower lifetime risk.

CONCLUSIONS AND RELEVANCE: In this study, women with inherited PVs conferring increased breast cancer risk had higher and more consistent MRI uptake than women with lower estimated risk. These findings emphasize the importance of genetic cancer risk assessment for effective enhanced breast cancer screening.

PMID:39804645 | DOI:10.1001/jamanetworkopen.2024.54447