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PubMed2026

Sustainable dietary recommendations for the Spanish population.

BACKGROUND/OBJECTIVES: The 2030 Agenda for Sustainable Development highlights the urgent need for a profound transformation in food production and consumption to enhance both sustainability and human health. The aim of this study is to provide both the general population and food system stakeholders with the most comprehensive and current information available on healthy and sustainable dietary patterns, in the form of culturally adapted food-based guidelines. METHODS: We performed a systematic review of the scientific evidence published since 2019 on the association between main food groups consumption and the risk of developing chronic diseases and premature mortality to update the information provided by the Dietary Guidelines for Americans 2020-2025, which summarized previous evidence. With this information, we updated the servings recommended in the former dietary guidelines for Spain. Then, we considered the recommendations of the EAT-Lancet Commission for healthy diets within planetary boundaries, specific dietary habits and food production in Spain, and adjusted the servings per each group to consider these characteristics. RESULTS: A minimum intake of 5 servings of vegetables and fruits per day is recommended, which may be distributed in at least 3 servings of vegetables per day, and 2-3 servings of fruits per day. Cereal consumption is set at 3-6 servings per day, adjusted to individual energy needs and prioritizing whole grains, no more than 4 servings per day are advised in cases of caloric restriction. Plant-based foods are recommended as the primary protein source, with legumes incorporated into at least one main daily meal and consumed at a frequency of at least 4 servings per week, ideally up to daily. Nut consumption should reach at least 3 servings per week, up to one serving per day, choosing those without added salt, fats or sugar. The remaining protein portions may include fish (≥3 servings/week, prioritizing oily fish and low-impact species), eggs (up to 4/week), dairy (up to 3/day, with low-sugar and low-salt options), and meat (up to 3/week, emphasizing poultry and rabbit, and minimizing processed meats). Daily consumption of olive oil at main meals is recommended. CONCLUSIONS: The proposed Sustainable Dietary Recommendations can help improve the health and well-being of the Spanish population, while reducing the environmental impact.

Humans↗

PubMed2026

Artificial Intelligence Cannot Replace Peer Reviewers but May Help Editors Triage: A Comparative Analysis of a Large Language Model and Human Reviewer Recommendations at the American Journal of Sports Medicine.

BACKGROUND: The peer review system faces increasing strain from rising manuscript volumes, reviewer fatigue, and well-documented interreviewer disagreement. Large language models (LLMs) have shown potential to support the peer review process, but their ability to replicate editorial decisions at high-impact medical journals and their utility as manuscript screening tools remain unknown. PURPOSE: To compare the agreement between an LLM and the final editorial decision on manuscripts submitted to the American Journal of Sports Medicine and to evaluate the potential of LLMs as a manuscript screening tool. STUDY DESIGN: Cross-sectional agreement study. METHODS: Fifty-four manuscripts randomly selected from submissions to the American Journal of Sports Medicine (September 2024-October 2024) were reviewed by a locally deployed LLM (Ministral 3 14B; Mistral AI) using a standardized prompt. The artificial intelligence (AI) produced a categorical recommendation (reject, cascade, revision, or accept) and a numerical score (0-100) for each manuscript. Agreement with the final editorial decision was assessed by Cohen kappa (4-category model) for pooled human reviewers (n = 139 reviews) and the AI (n = 54). Screening performance was evaluated by positive predictive value (PPV), sensitivity, and specificity. RESULTS: Pooled human reviewers demonstrated fair agreement with the final decision (κ = 0.181 [P < .001]; 42.4% agreement), while the AI demonstrated slight, nonsignificant agreement (κ = 0.126 [P = .099]; 37.0% agreement). The AI recommended revision for 61.1% of manuscripts, of which 72.7% were ultimately rejected or cascaded, demonstrating systematic "revision bias." When the AI recommended rejection, 54.5% of those manuscripts were ultimately rejected and 27.3% were cascaded; when the AI recommended cascade, 50% were rejected and 50% were cascaded. However, when the AI recommended rejection or cascade (n = 21), 90.5% received a final decision of rejection or cascade (PPV, 90.5%; specificity, 81.8%). Manuscripts with an AI score <70 were rejected or cascaded 88.0% of the time (PPV, 88.0%). CONCLUSION: AI cannot replicate the nuanced judgment of human peer reviewers at a high-impact sports medicine journal. When AI recommended rejection or cascade, 90.5% of manuscripts received that final decision (descriptive PPV, 90.5%; 95% CI, 71.1%-97.3%), suggesting potential utility as an exploratory first-pass screening tool warranting further validation in larger cohorts. However, AI could not reliably distinguish manuscripts destined for outright rejection from those that would be cascaded to a sister journal-an important limitation for editorial triage applications.

Sports Medicine↗

PubMed2026

A Scoping Review of Direct-to-Consumer Nutrigenetic Testing: Mapping Genes and Associated Nutrition Recommendations.

Consumer demand for autonomy in their own health care is fueling the rise of personal genetic testing. Nutrigenetics tests promise tailored dietary recommendations to help consumers achieve their health and well-being goals. To support informed decision-making by both practitioners and consumers, there is a need for a comprehensive evaluation of the current market landscape and the specific nutrition claims being made. A scoping review was completed via an internet search. Companies that provided direct-to-consumer tests with nutritional recommendations were included. Nonhuman, or pediatric tests, and tests requiring a health practitioner to order were excluded. Genes and nutrition recommendations used in the testing panels were mapped, and company characteristics were summarized. The review was prospectively registered with Open Science Framework (DOI: 10.17605/OSF.IO/A4K2R). There were 104 companies providing 204 nutrition-related testing panels that were included. The mean cost was US$234, with North America the most common continent of company registration. Only 56 (54%) companies publicly disclosed the genes used to make nutritional recommendations, with 3309 unique genes identified across testing panels. Micronutrients (n = 1593 genes), cardiovascular health (n = 1446 genes), and weight loss (n = 1383 genes) were the most commonly reported nutrition categories. Posttest support was provided by 55 (53%) companies, but this was often at additional cost (n = 33), and the qualifications of those providing support varied greatly. The expanding nutrigenetics market continues to be unregulated, with high variability in offerings. With thousands of unique genes linked with nutrition recommendations, it is challenging for healthcare practitioners and consumers to keep pace with this dynamic market. Evidence analysis and resources are required to support healthcare practitioners to provide consumers with evidence-based guidance and ensure their best interests are protected.

Humans↗

PubMed2026

Mapping and measuring addiction recovery: Recommended protocols through the PHENX toolkit.

BACKGROUND: Addiction "recovery" has served as a positive conceptual basis for major public health frameworks, communication strategies, and policies. With greater research interest and increasing explication of the recovery construct a multitude of measures have emerged, prompting a need to reach consensus on recommendations to enable better data harmonization and cross-study syntheses. The PhenX (consensus measures for Phenotypes and eXposures) Toolkit (www.phenxtoolkit.org) is a freely accessible catalog of validated protocols designed to promote data comparability across clinical, epidemiological, and genomic research, yet contained no recovery-specific measures. METHOD: In 2024, a Substance Use and Recovery Working Group (SURWG) followed a well-established and detailed PhenX consensus process to identify and recommend protocols suitable for recovery research. Protocols were chosen based on criteria including recovery specificity, brevity, psychometrics, scoring simplicity, and non-proprietary access. The broader scientific community (12 national/regional organizations) provided feedback (respondent N = 86) on the SURWG's preliminary recommendation which was incorporated into final decisions. RESULTS: In 2025, the PhenX Toolkit released 15 new recommended protocols across three broad recovery elements: 1. Biopsychological (post-acute withdrawal; craving), 2. Socio-ecological (social relationships;social network characteristics; substance use goal; recovery identity; recovery capital), 3. Treatment and recovery services (Treatment and Recovery Services Use; Satisfaction; and Happiness in Recovery; Mutual-Help). CONCLUSIONS: This PhenX Toolkit SURWG process resulted in a new Substance Use Recovery Specialty Collection of recommended protocols with specific multidimensional applicability. As such, they provide the field with pre-vetted tools that researchers can employ with some confidence to enhance empirical efficiency and return on national research investment.

Humans↗

PubMed2026

Simultaneous Administration of Human Papillomavirus (HPV) Vaccine With Other Recommended Vaccines Among Adolescents Aged 13-17 years, National Immunization Survey-Teen (NIS-Teen), United States, 2023.

PURPOSE: To investigate the percent of adolescents who receive human papillomavirus (HPV) vaccine with one or more other vaccines recommended for adolescents in a single medical visit. METHODS: Data from the 2023 National Immunization Survey-Teen were analyzed. Timing of receipt of HPV vaccine, tetanus, diphtheria, and acellular pertussis vaccine (Tdap), quadrivalent meningococcal conjugate vaccine (MenACWY), and influenza vaccine was assessed using provider-reported vaccination histories. RESULTS: In 2023, among adolescents aged 13-17 years, 69.5% received HPV vaccine with one or more other vaccines recommended for adolescents in a single medical visit. In addition, 47.8% received specifically HPV vaccine, Tdap, and MenACWY together in a single medical visit. DISCUSSION: The HPV vaccine is commonly given with other vaccines recommended for adolescents in a single medical visit. These findings demonstrate variation in simultaneous vaccination patterns, suggesting that flexibility in the recommended adolescent vaccination schedule allows for different approaches to vaccination across clinical settings and family preferences while maintaining adherence to the recommended schedule.

Humans↗

PubMed2026

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).

BACKGROUND: Large-scale functional assays, including multiplex assays of variant effect, have substantial potential to resolve variants of uncertain significance (VUS), particularly for rare missense variants where clinical and population evidence are limited. The ClinGen assay-level clinical validation framework described by Brnich et al provided baseline guidance for the use of functional data for variant classification. However, clear consensus regarding construction of variant 'truthsets' by which to clinically validate functional data remains lacking. METHODS: CanVIG-UK developed consensus recommendations for truthset construction through an iterative national consultation process involving the CanVIG Steering Advisory Group (CStAG), wider CanVIG-UK membership, and engagement with international functional genomics experts. Consultation was based on previous analyses of 2,120 truthset constructions examining the impact of truthset composition on evidence point allocation within the ClinGen assay-level clinical validation framework. RESULTS: Across several consultations, CanVIG-UK established nine guiding principles and seven best-practice recommendations for assay-level clinical validation, using the assumed context of an assay for a cancer susceptibility gene where loss-of-function is the mechanism of pathogenicity. The principal recommendation stipulates, where assays are intended for use in interpretation of largely missense variants, the truthset used to validate should comprise only missense variants. Rather than mixtures of different variant types which may serve to over-estimate assay performance. Additional recommendations support option for relaxation of truthset stringency to improve power, augmentation of benign missense truthsets with systematically derived 'proxy-clinical' benign variants, independent clinical validation separate from assayist-defined validation, and careful evaluation of missense score distributions against that of protein-truncating and synonymous variants. Guidance is also provided for scenarios with limited pathogenic truthset availability and for assays reporting multiple deleterious zones or readouts. CONCLUSIONS: The CanVIG-UK principles and recommendations for truthset construction upon the ClinGen assay-level clinical validation framework, while aiming to form a baseline for future discussion regarding other functional and disease contexts and helping to address the gap between publication of new data and routine clinical implementation.

Journal Article↗

PubMed2026

A systematic review of international/national guidelines for the management of nasopharyngeal carcinoma: Convergence and divergence of recommendations.

Increasing numbers of clinical practice guidelines have been published by international/national groups for nasopharyngeal carcinoma (NPC), providing valuable references for clinicians in making evidence-based decisions on treatment. However, there are substantial discrepancies in various recommendations, leading to uncertainties in choosing the optimal strategies. The authors systematically searched databases and organizational websites for NPC guidelines published between January 2000 and November 2025. All identified guidelines underwent quality appraisal; in total, 26 clinical practice guidelines rated recommended for use were included. The recommendations covering all management aspects (diagnosis, staging, radiotherapy, systemic therapy, follow-up surveillance, biomarkers, and salvage of recurrent/metastatic diseases) were summarized and comparatively analyzed for consistency and disparities. Strong consensus exists for diagnostic workup, staging systems, and induction chemotherapy plus concurrent chemoradiotherapy for advanced disease, whereas marked disparities exist on radiotherapy details, particularly target volume delineation, elective coverage extent, and dose specifications. Although systemic therapy strategies for different stage groups were mostly consistent, substantial disparities exist in alternative options and treatment details. This first comprehensive systematic synthesis of international NPC guidelines provides a practical reference for clinicians to understand all recommendations and select optimal options based on local resources and expertise while identifying current controversies that demand future research for further standardization and harmonization.

Humans↗

PubMed2026

From standardization to precision medicine: Evolution of European Leukemianet recommendations in Philadelphia-negative myeloproliferative neoplasms.

The European LeukemiaNet (ELN) recommendations have been instrumental in shaping the diagnosis, risk stratification, and management of Philadelphia-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Over the past two decades, these recommendations have evolved from consensus-based frameworks focused on response standardization to increasingly sophisticated, evidence-based and biologically informed approaches. Early efforts primarily aimed to harmonize response criteria across clinical studies, establishing a foundation for consistent therapeutic evaluation. Subsequent updates introduced risk-adapted treatment strategies centered on thrombotic risk, reflecting the major determinants of morbidity and mortality in these disorders. However, the limitations of surrogate endpoints prompted a shift toward clinically meaningful outcomes, including symptom burden, vascular events, and disease progression. More recent advances have been driven by the integration of molecular genetics and the adoption of structured evidence-based methodologies, enabling refined diagnostic classification and more accurate prognostic assessment. Contemporary ELN frameworks increasingly incorporate dynamic clinical parameters, genomic profiling, and emerging biomarkers, supporting a transition toward individualized, risk-adapted therapeutic strategies. Beyond their role in standardizing MPN management, ELN recommendations have also influenced clinical trial design, endpoint selection, risk stratification, and therapeutic decision-making. Evidence from prospective studies and real-world cohorts supports the clinical applicability of these frameworks, although their implementation remains heterogeneous across healthcare settings. This review provides a comprehensive and critical overview of the evolution and implementation of ELN recommendations, highlighting their impact on clinical research and routine practice, current limitations, and future directions toward precision medicine in Philadelphia-negative MPNs.

Essential thrombocythemia↗

PubMed2025

Relapsed rhabdomyosarcoma: treatment recommendations from the European pediatric soft tissue sarcoma study group (EpSSG).

At least one-third of patients with localized rhabdomyosarcoma (RMS) and 60-70% of patients with metastatic RMS experience progressive disease or relapse. Following relapse, outcomes generally remain poor with limited treatment options and a high risk of subsequent recurrence. Optimal treatment requires a multidisciplinary approach incorporating chemotherapy with local control. Given the complexity of managing relapsed RMS and the challenges in developing effective treatment strategies, we aim to present clear and practical recommendations on the management of these patients across Europe. These recommendations were developed collaboratively by a group of pediatric and adolescent sarcoma experts from the European paediatric Soft Tissue Sarcoma Study Group. A careful review of the literature was performed to ensure that wherever possible recommendations are supported by the results of clinical trials or substantive retrospective reports. Such recommendations provide a standardized approach to managing relapsed cases, improving patient outcomes and offering a framework for clinicians to make informed decisions.

Humans↗

PubMed2025

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.

PURPOSE: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to Strong. A new generation of tools using distinctive approaches has since been released, and these methods must be independently calibrated for clinical application. METHODS: Using our local posterior probability-based calibration and our established data set of ClinVar pathogenic and benign variants, we determined the strength of evidence provided by 3 new tools (AlphaMissense, ESM1b, and VARITY) and calibrated scores meeting each evidence strength. RESULTS: All 3 tools reached the Strong level of evidence for variant pathogenicity and Moderate for benignity, although sometimes for few variants. Compared with previously recommended tools, these yielded at best only modest improvements in the trade-offs between evidence strength and false-positive predictions. CONCLUSION: At calibrated thresholds, 3 new computational predictors provided evidence for variant pathogenicity at similar strength to the 4 previously recommended predictors (and comparable with functional assays for some variants). This calibration broadens the scope of computational tools for application in clinical variant classification. Their new approaches offer promise for future advancement of the field.

Humans↗

PubMed2026

A prospective crossover study comparing ICCS-recommended and Palmer-adjusted filling rates in children with spina bifida.

OBJECTIVE: This study aimed to investigate whether the maximal cystometric capacity (MCC) in children with spina bifida (SB) is indeed lower, as predicted by the Palmer formula, and to evaluate the impact of different bladder filling rates on urodynamic parameters. MATERIALS AND METHODS: This prospective, randomized, two-sequence crossover-controlled study included 70 children aged 3-18 years with spina bifida under regular follow-up. In Group 1, the first two bladder fillings were performed at the ICCS-recommended rate, and the third at 75% of that rate (Palmer formula). In Group 2, the sequence was reversed. Urodynamic parameters, including maximal cystometric capacity (MCC), bladder compliance, detrusor activity, filling pressures, and detrusor leak point pressure (DLPP), were analyzed across fillings. RESULTS: Cystometric bladder capacity was lower during fillings performed at the Palmer-adjusted rate compared with those at the ICCS-recommended rate. The proportion of reduced compliance significantly decreased in Group 1 (p = 0.046) but remained unchanged in Group 2. A significant positive correlation was observed between expected bladder capacity (EBC) and measured MCC in both groups (ρ ≈ 0.5-0.6). The highest correlation and agreement were found in Group 1 during the third filling at the Palmer rate (ICC = 0.606). No significant intra- or intergroup differences were observed in detrusor pressure, end-filling pressure, DLPP, or overactive bladder prevalence. CONCLUSION: Bladder filling rate was associated with differences in both cystometric capacity and bladder compliance in children with spina bifida. Fillings performed according to the Palmer formula (approximately 75% of the ICCS-recommended rate) were associated with capacities that more closely approximated age-expected values and with modest differences in bladder compliance. Conversely, faster filling rates did not produce similar benefits. These findings suggest that slower filling strategies may improve measurement consistency and agreement with expected bladder capacity estimates. However, the magnitude and direct clinical impact of these differences should be interpreted cautiously, particularly in light of the potential influence of sequence-related effects.

Humans↗

PubMed2026

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers' genetic literacy and an ambiguous lexicon for variant description may hinder proper delivery and clinical application of consistently trustworthy test results. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium supports controlled terminology and recommends a framework for reporting germline variants in cancer susceptibility genes, using breast cancer as an exemplar. Moving forward towards terminological coherence across disciplines and borders, the ENIGMA Clinical Working Group launched a multinational effort to release consortium-approved translations of the published recommendations. The herein reported Vocabulary Translation Project offered an opportunity to reappraise and align the reference text to the recent BRCA1 and BRCA2 specifications to the American College of Medical Genetics and Genomics/Association for Molecular Pathology rules by the ENIGMA Variant Curation Expert Panel and to highlight country-specific differences in breast cancer risk assessment and management. The updated recommendations and their 20 translations are now provided as easy to handle documents, covering 11 of the most widely spoken languages in the world. They will contribute to minimised erroneous inferences, more informed decision-making, improved health outcomes and equity in the use of genetic testing for cancer predisposition and in translational oncology.

Humans↗

PubMed2026

Re-evaluating pediatric laryngoscope blade size recommendations: Comparable intubation performance across blade sizes in pediatric manikin models.

BACKGROUND: Pediatric airway management traditionally emphasizes strict adherence to age-based laryngoscope blade size recommendations, despite limited empirical validation. OBJECTIVES: To evaluate whether intubation performance varies across a range of blade sizes, and whether a Macintosh 2 blade performs comparably across multiple pediatric age groups in a simulation setting. METHODS: We conducted a randomized crossover simulation study using three pediatric airway manikins (neonate, infant, and child age groups). Emergency medicine residents and faculty physicians performed intubations using multiple laryngoscope blade types and sizes, including standard and nonstandard options. Primary outcomes were intubation time and first-attempt success. Secondary outcomes included complications and operator-rated ease of glottic view and tube passage. Between-blade differences were estimated with 95% confidence intervals. RESULTS: Across manikin sizes and blade types, intubation times were short and first-attempt success rates exceeded 98% in most conditions. Performance remained consistent even with blade sizes outside conventional age-based recommendations. Between-blade differences in intubation time were small, and complication rates were low across conditions. The Macintosh 2 blade performed comparably across all manikin sizes, with similar intubation times, high success rates, and favorable ease ratings. CONCLUSIONS: Intubation performance in pediatric manikin models was similar across a wide range of blade sizes. These hypothesis-generating findings warrant prospective clinical evaluation of simplified blade selection strategies for pediatric intubation.

Manikins↗

PubMed2025

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.

PURPOSE: For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data. METHODS: The International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for genomic NBS through 3 rounds of online questionnaires, with feedback provided to participants between rounds. RESULTS: In round 1, 94 participants completed the questionnaire, and 10 of 43 statements reached consensus. In round 2, 81 participants completed the questionnaire, and 14 of 27 statements reached consensus. In round 3, 68 participants completed the questionnaire, and all 10 statements reached 72% or more consensus. CONCLUSION: The 10 consensus recommendations developed in this study can guide future research and public health programs performing genomic NBS. This process also identified key areas of participant discordance, highlighting important topics for future research.

Humans↗

PubMed2026

Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.

Cancer Predisposition Syndromes (CPS) are heritable genetic conditions associated with an increased risk of developing various cancers throughout life. While early identification and tumour surveillance can improve outcomes, CPS are often underdiagnosed in clinical practice. To evaluate clinicians' perspectives and identify barriers to CPS identification and care across Europe, we conducted the SCOPE study: a three-part cross-sectional survey of paediatric haematology/oncology professionals, followed by a modified Delphi consensus process with members of the SIOP Europe Host Genome Working Group. A total of 185 paediatric oncologists from 22 countries participated in the survey. More than 40% of participants reported low or uncertain confidence across different CPS-related tasks, particularly in counselling families (64.3%) and interpreting germline genetic findings (57.3%). Access to clinical geneticists and dedicated CPS clinics were predictors of higher confidence for some domains, while individual experience and institutional patient volume had limited influence. Regular use of universal CPS screening tools was low (42.3%), with most clinicians relying on personal judgement rather than structured criteria. The most cited barriers were lack of screening guidelines (57%) and difficulties in interpreting results (35.1%). Regular training and workshops, availability of genetic counsellors or educators for patient support, and patient-friendly education material were most cited as areas of improvement. The Delphi process led to three recommendations: (1) improve clinician training and communication strategies, (2) integrate CPS screening into standard treatment plans, and (3) develop accessible, patient-centred educational materials. These recommendations highlight opportunities to enhance CPS care through structured support, interdisciplinary collaboration, and systematic screening approaches.

Humans↗

PubMed2026

Recommendations for return of secondary genomic findings in observational cohort studies.

The return of secondary genomic findings (ROSF) to participants in observational cohort studies has evolved from a topic of debate to an accepted standard. This Perspective synthesizes the proceedings of a 2024 National Heart, Lung and Blood Institute-sponsored workshop and the broader literature to provide updated guidance for ROSF. Building on the 2010 National Heart, Lung and Blood Institute Working Group recommendations and the 2014 Clinical Sequencing Exploratory Research/Electronic Medical Records and Genomics 'floor and ceiling' framework, we address four areas: an integrated ethical framework for observational cohort settings; the emerging challenge of returning novel result types beyond monogenic variants, including polygenic risk scores, somatic mosaicism and pharmacogenomic findings; health equity and community engagement as structural prerequisites for ethical ROSF; and scalability challenges, including technology-assisted disclosure. Drawing on implementation experience from large-scale sequencing programs, we offer recommendations that balance researcher obligations with participant autonomy and equitable access to the benefits of genomic research.

Journal Article↗

PubMed2026

Multigene testing to guide clinical adjuvant decisions in breast cancer: An overview focused on the assessment of the quality of evidence with the grading of recommendations assessment, development and evaluation (GRADE) approach.

Multigene tests have emerged as valuable tools in guiding adjuvant chemotherapy decisions for patients with ER-positive/HER2-negative early breast cancer. This study applied the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach to assess the quality of evidence supporting the clinical utility of these tests. We focused on OncotypeDX® and MammaPrint®, the two tests evaluated in prospective randomized trials. The analysis was structured around the clinical question of whether these tests should be recommended for patients with ER-positive, HER2-negative, lymph node-negative or up to 3 lymph nodes-positive invasive breast cancer to guide adjuvant chemotherapy decisions. Our findings reveal that OncotypeDX® demonstrates high clinical utility in sparing chemotherapy for older/postmenopausal patients, with convincing quality of evidence for both node-negative and node-positive patients. The clinical utility of MammaPrint® appears more controversial, with conflicting results between node-negative and node-positive patients. A particularly critical aspect remains the clinical usefulness of these tests in younger/premenopausal women, where the benefit of adjuvant chemotherapy was shown but with potential biases in the study designs. Despite the established role of multigene tests and their availability in Italy since 2021, their uptake in clinical practice remains suboptimal. This formal appraisal of the clinical utility of genomic tests, particularly OncotypeDX®, aims to reinforce their fundamental role in personalizing adjuvant treatment decisions and optimizing resource allocation. The study underscores the importance of these tests in sparing unnecessary chemotherapy toxicities and costs, while emphasizing the need for further research to address remaining uncertainties, especially in younger patient populations.

Humans↗

PubMed2026

Diagnosis, treatment and monitoring of pediatric Behçet's disease: Systematic literature review informing the ISSAID/PRES recommendations.

BACKGROUND: Pediatric-onset Behçet's disease (BD) accounts for up to 20% of cases and represents a distinct clinical entity characterized by evolving phenotypes and age-specific patterns of organ involvement. This systematic literature review synthesizes current evidence on pediatric BD, informing forthcoming recommendations by the International Society of Systemic Auto-Inflammatory Diseases (ISSAID) and the Pediatric Rheumatology European Society (PReS). METHODS: A systematic search was conducted according to PRISMA guidelines. Observational studies reporting clinical features, diagnostic criteria, management strategies, and outcomes in BD patients diagnosed before the age of 16 years were included. Proportional meta-analysis was performed to give pooled estimates for organ system involvement. RESULTS: Fifty-two studies, encompassing 2929 patients, met inclusion criteria. Sex distribution was balanced, with a 1:1 male-to-female ratio. The age of onset differed, with 1 year old being the lowest median age of onset and 2 years the lowest median age of diagnosis. The pooled random-effects estimate demonstrated that 50% of patients were HLA-B51 positive (95% CI, 0.5-0.6). Mucocutaneous manifestations were nearly universal (97.8%) and frequently represented the initial feature (80.9%). Musculoskeletal (36%), ocular (35%), neurological (17.9%), gastrointestinal (20%), vascular (15.4%) manifestations showed substantial variability in prevalence. Therapeutic approaches varied widely and were extrapolated from adult practice, with treatment guided by organ involvement and severity. CONCLUSIONS: Pediatric BD encompasses a heterogeneous spectrum of phenotypes requiring harmonized diagnostic frameworks, structured phenotypic stratification, and standardized monitoring to improve long-term outcomes. The relative burden and combination of organ manifestations varied across cohorts, reflecting both biological heterogeneity and differences in study design.

Humans↗