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At least 19 recordsLinked to original sources

PubMed2025

A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases.

PURPOSE: To systematically evaluate the diagnostic yield and clinical utility of genome sequencing (GS) and exome sequencing (ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases. METHODS: We conducted a meta-analysis of studies published between 2011 and 2023. To address study heterogeneity, comparative analyses included within-cohort studies using random-effects models. RESULTS: We identified 108 studies including 24,631 probands with diverse clinical indications. The pooled diagnostic yield among within-cohort studies (N = 13) for GWS was 34.2% (95% CI: 27.6-41.5; I2: 86%) vs 18.1% (95% CI: 13.1-24.6; I2: 89%) for non-GWS, with 2.4-times odds of diagnosis (95% CI: 1.40-4.04; P < .05). The pooled diagnostic yield among within-cohort studies (N = 3) for GS was 30.6% (95% CI: 18.6-45.9; I2: 79%) vs 23.2% (95% CI: 18.5-28.7; I2: 58%) for ES, with 1.7-times the odds of diagnosis (95% CI: 0.94-2.92; P = .13). In first-line testing, the diagnostic yield tended to be higher for GS than for ES across clinical subgroups. The pooled clinical utility among patients with a positive diagnosis was 58.7% (95% CI: 47.3-69.2; I2: 81%) for GS and 54.5% (95% CI: 40.7-67.6; I2: 87%) for ES. CONCLUSION: GS appears to have a higher diagnostic yield than ES, with similar clinical utility per positive diagnosis.

Child↗

PubMed2026

Real-world clinical utility of exome sequencing in pediatric drug-resistant epilepsy: Experience from a tertiary center in Thailand.

BACKGROUND: Genomic testing has increasingly contributed to the diagnosis and management of pediatric drug-resistant epilepsy (DRE), particularly in patients with suspected genetic etiologies. This study evaluated the diagnostic yield and real- world clinical utility of whole-exome sequencing (WES) in children with DRE. METHODS: Children with DRE and seizure onset before 15 years of age were enrolled between January 2020 and December 2023. Clinical data, including demographics, seizure characteristics, developmental history, electroencephalography (EEG), brain magnetic resonance imaging (MRI), and prior investigations, were reviewed. WES was performed in all probands and, when available, their parents. Variants were interpreted according to standard guidelines. Clinical utility and 1-year seizure and developmental outcomes were assessed from follow-up records. RESULTS: Fifty-six patients (23 males, 33 females) were included. The median age at seizure onset was 1 year (interquartile range [IQR] 0.3-4 years), and 96.4% had developmental comorbidities. Pathogenic or likely pathogenic variants were identified in 39% (22/56), with the highest diagnostic yield in children with seizure onset before 3 years of age. Channelopathies accounted for most genetically solved cases (68%), predominantly involving sodium channel genes. Genetic diagnoses provided clinical utility in 73% (16/22) of solved cases by guiding treatment and precision management. At 1-year follow-up, genetically solved patients showed more favorable seizure and developmental outcomes than those with genetically unsolved patients. CONCLUSION: WES achieved a 39% diagnostic yield and substantial clinical utility in pediatric DRE, particularly in early-onset and channelopathy-related disorders. These findings support early molecular diagnosis to facilitate genotype-informed management in appropriately selected children. However, the more favorable developmental and seizure outcomes observed in genetically solved patients should be interpreted with caution, as they may have been influenced by multiple factors beyond genetic diagnosis. In resource-limited settings, careful clinical phenotyping remains essential for treatment decisions and for prioritizing children for genomic testing.

Clinical utility↗

PubMed1975

Comparison of the clinical utility of four drug information services.

The clinical utility of International Pharmaceutical Abstracts, Iowa Drug Information Service, deHaen Drugs in Use, and deHaen Drugs in Research was compared. The number of references obtained for questions in five different clinical areas, and the amount of time for each search, were studied and compared. The Iowa Drug Information Service appeared to have the highest overall relative utility for obtaining clinical information. The two deHaen services offered broad coverage of the primary clinical literature. International Pharmaceutical Abstracts was effective in locating many useful references.

Biopharmaceutics↗

PubMed2026

Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large Cohort.

INTRODUCTION: The identification of precise genetic etiologies is indispensable for the clinical management of monogenic disorders. However, conventional diagnostic methods and exome sequencing (ES) frequently fail to identify complex structural variations (SVs), leaving the genetic basis unexplained in approximately 30-60% of suspected cases. Optical genome mapping (OGM) emerges as a high-resolution technology capable of detecting cryptic SVs inaccessible to standard methodologies. METHODS: In this study, we evaluated the clinical utility of integrating OGM into the diagnostic algorithm for unresolved monogenic diseases. Following negative or inconclusive results from standard ES pipelines, OGM was applied to a targeted subset of patients (n = 7) selected from a comprehensive clinical cohort of 1,257 individuals with suspected genetic disorders. RESULTS: The integration of OGM identified candidate SVs that may represent the second allelic alteration in two distinct cases; however, confirmation through parental segregation analysis remains pending. Specifically, OGM identified an intronic insertion in the TTLL5 gene and a deletion in a putative regulatory region approximately 400 kb upstream of the NMNAT1 gene, both of which were missed by prior diagnostic testing. CONCLUSION: Our findings suggest that OGM has potential value in investigating the missing heritability of autosomal recessive disorders. By detecting candidate SVs invisible to conventional methods, OGM may warrant consideration as a complementary diagnostic approach following inconclusive ES; however, larger cohorts and confirmatory functional studies are needed to establish its clinical utility.

Autosomal recessive disorders↗

PubMed2024

Opportunistic genomic screening has clinical utility: An interventional cohort study.

PURPOSE: Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking. We assessed the outcomes of opportunistic screening for a broad spectrum of SFs by evaluating the yield, impact on clinical management, and consistency between SFs and participants' clinical features and family history. METHODS: Adult cancer patients had exome sequencing with the option to learn multiple categories of SFs. Outcomes data were collected through chart review and participant-reported measures up to one year after return of results. RESULTS: All participants (n = 139, 85.6% female, average 54.6 years old) who elected to learn SFs had ≥1 variant reported (100% [139/139]). The yield of reportable findings was highest for pharmacogenomic variants (97.8% [135/138] of participants), followed by common disease risk variants (89.4% [118/132]), carrier status (89.3% [117/131]), and variants related to Mendelian (27.2% [34/125]), medically actionable (15.2% [21/138]), and early-onset neurodegenerative (2.6% [3/117]) disease risks. SFs from the American College of Medical Genetics and Genomics list (v3.2, noncancer genes) were reported in 1.4% (2/138) of participants. SFs across all categories demonstrated clinical utility by prompting management changes in 28.1% (39/139) of participants. Moreover, a considerable proportion of participants had suggestive clinical features (49.0% (24/49)]) or family history (21.8% (27/124)) potentially related to their SFs. CONCLUSION: Our findings indicate there are potential benefits from opportunistic screening for a broad range of SFs.

Humans↗

PubMed1976

Validity and clinical utility of the grid test of schizophrenic thought disorder.

It is suggested that a clearer distinction should be made between the statistical validity and the clinical utility of the Grid Test of schizophrenic thought disorder. The results of three published studies are examined, and in each case the Grid Test is found to have appreciable statistical validity in terms of correlations between grid predictions and clinical judgements of thought disorder. Two criteria are proposed for assessing the usefulness of the Grid Test as a diagnostic instrument, and from an examination of the results of three published studies it is concluded that, despite its statistical validity, the test, at least in its present form, has no appreciable clinical utility.

Cognition Disorders↗

PubMed2026

Oncotype DX: Clinical Utility, Evidence, and Future Trends in Personalized Breast Cancer Management.

The Oncotype DX assay has revolutionized the management of early-stage, hormone receptor-positive, HER2-negative breast cancer. Developed in 2004, it quantifies 21 genes to generate a recurrence score that predicts distant recurrence risk and guides adjuvant chemotherapy. Multiple studies have validated its reliability and clinical utility in enabling more precise risk stratification and individualized treatment planning, thereby minimizing unnecessary chemotherapy exposure and improving patient outcomes. Leading oncology organizations such as the American Society of Clinical Oncology and National Comprehensive Cancer Network have incorporated it into their clinical guidelines. Beyond its well-established role in adjuvant chemotherapy decision-making, Oncotype DX is increasingly being investigated in broader clinical contexts, including lymph node-positive breast cancer, neoadjuvant therapy, radiotherapy, and ductal carcinoma in situ. Ongoing research and technological advancements, such as artificial intelligence-based predictive models and novel biomarker identification, hold significant promise for further enhancing its predictive accuracy and expanding its applications. This review synthesizes current evidence supporting the clinical utility of Oncotype DX, discusses evolving applications, and highlights future directions for integrating this genomic tool into precision oncology practice.

Humans↗

PubMed1977

Oblique views in lung perfusion scanning: clinical utility and limitations.

Over 300 perfusion lung scans were reviewed to assess the clinical utility of routinely performed anterior and posterior oblique projections. The characteristics of normal anterior and posterior oblique views were analyzed and compared with lateral projections. The four oblique images contributed materially toward characterization of perfusion defects in 63% of all abnormal studies; the contribution of posterior obliques was 48%, anterior obliques, 15%. For scans displaying at least one focal defect, oblique views were of benefit in over 70% of cases, with posterior obliques accounting for 55%. Oblique views contributed little when perfusion abnormalities involved both lung fields diffusely. The posterior oblique projection was of more value than the anterior oblique because of its ability to clarify lower-lobe abnormalities significantly. A scanning artifact in the posterior oblique views, due to attenuation of the near lung activity by scapula and shoulder-girdle musculature, was seen in 90% of normal studies.

Adult↗

PubMed1978

Cultural aspects of psychiatric clinic utilization a cross-cultural study in Hawaii.

Data was obtained by ethnic status from 411 outpatients at a psychiatric clinic in Honolulu, Hawaii, and were then analyzed according to demographic variables, welfare status, source of referral, primary compliants or symptoms, diagnosis, and duration of treatment received. Clinic utilization was highly related to ethnicity, with Caucasians highly over-represented in proportion to the population, and other groups, especially Japanese, being greatly under-represented. The Caucasians were more likely to be self-referred, to have subjective symptoms of anxiety and depression, and to receive a neurotic diagnosis. The Japanese, and to some extent all other groups, were more often referred after a crisis or severe mental illness, displayed more socially disruptive symptoms, and had a higher percentage of schizophrenic diagnoses. Ethnicity was thus highly related to utilization of mental health services; however, once entry into the system was made, review of therapist case loads and analysis of duration of treatment revealed no ethnic difference in the clinic's response to patients.

Adolescent↗

PubMed1979

Clinical utility of the WISC-R and the French Pictorial Test of Intelligence with native American primary grade children.

Cultural bias and the clinical utility of the WISC-R and French Pictorial Test of Intelligence were evaluated using scores of 22 male and 22 female Navajo primary grade children. There were no significant differences in performance on either test according to sex. As expected, the Verbal IQ and Full Scale IQ of the WISC-R and the Deviation IQ of the French provided significantly depressed estimates of ability. A prorated Performance IQ might be the least depressed measure of potential among these children.

Child↗

PubMed1978

Clinical utility of CAT body scans.

The results of 202 computerized axial tomography (CAT) body scans performed on hospitalized patients were analyzed for their accuracy and clinical utility. The sensitivity (80 per cent), specificity (70 per cent), and accuracy (77 per cent) were high but not superior to ultrasound examinations of the same area. The results of the CAT body scan affected patient management in 16 per cent of patients and affected the success of treatment in 1 per cent of patients. We conclude that for many abdominal conditions ultrasound scans are equally as accurate and substantially more cost-effective than CAT body scans, and that the clinical value of CAT body scans needs support from controlled clinical trials.

Adolescent↗

PubMed1978

[Linear accelerators in oncoradiology. Comparison of the effciency of four clinically utilized electron linear accelerators with energies up to 20 MeV (author's transl)].

Further development of linear accelerators for medical purposes results in leaving off the principle of circular acceleration. The present investigation, comparing four clinically utilized electron linear accelerators with different constructional systems, reveals a large scale of clinical applicability, advantages and disadvantages partly compensating one another. None of the four machines examined offers a total of decisive advantages as compared to the other ones. Some essential data from the side of radiation exit are tested: depth dose data and photon contamination during operation with electrons, field sizes and homogeneity, penumbral width and penetration power for electron and X radiations. The appreciation of electron therapy by the radiologist may be a factor as well the handling of the machine, but in many cases the space available in an existing locality or the confidence in the ready service of a contracting firm, considerations concerning failure periods, estimate of repair and subsequent costs are influencing the decision for a certain type of equipment.

Electrons↗

PubMed2025

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID) is among the most common neurodevelopmental disorders, with up to half of cases are attributed to genetic factors. Chromosome microarray (CMA) has traditionally been the primary genetic test for idiopathic GDD/ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) have recently emerged, substantially increasing diagnostic yields in these populations. METHODS: We conducted a comprehensive literature search of PubMed, Scopus, EMBASE, and the Cochrane Library from inception to April 29, 2025. Studies reporting the diagnostic utility of these tests in children with GDD/ID were included and analyzed. RESULTS: A total of 102 studies, comprising 55,752 children, were reviewed. The pooled diagnostic yield of WES was 0.37 (95% CI: 0.33-0.41; I2 = 93%), significantly higher than that of CMA at 0.19 (95% CI: 0.16-0.21; I2 = 95%). Subgroup analyses showed that WES yielded significantly higher diagnostic rates than CMA in both same-sample comparisons (OR = 2.27, 95% CI: 1.08-4.78) and different-sample comparisons (OR = 1.65, 95% CI: 1.15-2.37). Only one study evaluated WGS, reporting a diagnostic yield of 0.27. Meta-regression revealed a significant association between CMA diagnostic yield and the proportion of male participants (p < 0.01), but not with WES. No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities. CONCLUSION: In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted.

Humans↗

PubMed2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio-based whole-exome sequencing (WES). METHODS: Trio-based WES was performed in 31 Rwandan pediatric patients with ASD (aged 2-18 years) and their parents. Variants were analyzed using a trio-based workflow and classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: Eleven candidate variants were identified in 9 of 31 patients, including four likely pathogenic variants and seven variants of uncertain significance. This resulted in a diagnostic yield of 12.9% (4/31), expanded to 29.0% when phenotypically concordant variants of uncertain significance were considered. Most likely pathogenic variants were identified in individuals with syndromic ASD who presented with intellectual disability, epilepsy, and global developmental delay. Likely pathogenic findings included two single nucleotide variants in GABRB3, SYNGAP1, and two copy-number variants involving the GNAS locus and chromosome 1p35.3-p35.2. CONCLUSIONS: The diagnostic yield observed in this cohort is consistent with previous trio-based WES studies of ASD. The findings support the clinical utility of WES for the genetic evaluation of ASD and underscore the need for expanded genomic studies in African populations.

Humans↗

PubMed1992

Detection of human papillomavirus DNA without amplification: prospects for clinical utility.

Certain HPV types are major risk factors for the development of cervical and other human cancers. This chapter describes some of the problems which have precluded accurate diagnosis of HPV-related conditions in many studies. Despite the confusion, a multitude of reports demonstrate that HPV DNA testing has clinical utility, and future investigations should be directed at more accurately delineating its role in human health care.

DNA, Viral↗

PubMed2026

Clinical Utility of Next-Generation Sequencing in Tumors Diagnosed as Lung Squamous Cell Carcinoma: Real-World Data of Diagnostic and Therapeutic Implications.

Lung squamous cell carcinoma (LUSC) is the second most common subtype of non-small cell lung carcinoma (NSCLC), typically associated with a poor prognosis. Unlike lung adenocarcinoma, the application of next-generation sequencing (NGS) in LUSC has lagged because of the long-standing perception of low therapeutic yield, primarily based on highly selected, resected cohorts. We sought to determine the real-world clinical utility of NGS in LUSC. We analyzed an institutional cohort of 576 tumors initially diagnosed as LUSC that underwent NGS profiling. We defined "clinical yield" as either diagnostic reclassification or the identification of a targetable mitogenic alteration. Twenty cases (3.5%) were reclassified, including rediagnosis to cutaneous squamous cell carcinoma, transformed adenocarcinoma (post targeted therapy), and rare entities such as nuclear protein of the testis-rearranged carcinoma and lymphoepithelial carcinoma. Primary mitogenic drivers were identified in 83 cases (14.4% of the total cohort), of which 43 (7.5% of the total cohort) harbored alterations with currently Food and Drug Administration-approved therapies for NSCLC (including KRAS, EGFR, MET, ALK, and ROS1). Overall clinical yield-defined as the sum of diagnostic reclassifications and identification of NSCLC-specific targetable alterations-was 11.0% (63/576). Univariate and multivariate analysis demonstrated that never or light smoking history was the strongest independent predictor of clinical yield, with 57.3% of tumors in this subset being reclassified or harboring a strong driver. Our findings demonstrate that NGS provides significant diagnostic and therapeutic value in a real-world LUSC cohort, challenging the historical premise of low yield. Although clinicodemographic features can help prioritize testing in resource-limited settings, the identification of targetable drivers across all smoking groups supports the universal application of comprehensive NGS for all patients diagnosed with LUSC.

Humans↗

PubMed2025

Clinical utility of comprehensive genomic profiling test for colorectal cancer: a single institution prospective observational study.

PURPOSE: Next-generation sequencing (NGS) has revolutionized cancer treatment by enabling comprehensive cancer genomic profiling (CGP) to guide genotype-directed therapies. While several prospective trials have demonstrated varying outcomes with CGP in patients with advanced solid tumors, its clinical utility in colorectal cancer (CRC) remains to be evaluated. METHODS: We conducted a prospective observational study of CGP in our hospital between September 2019 and March 2024. Overall survival (OS) of the patients who received CGP-based therapy and those did not was compared, and genomic variables associated with OS were evaluated. RESULTS: A total of 100 patients with CRC underwent CGP using four platforms. The median patient age was 67 years, and most had a good performance status. The most frequent genomic alterations were TP53 (82%), APC (82%), and KRAS (55%). Actionable mutations such as ERBB2 amplification and BRAF V600E were identified in some patients, and 9% received CGP-based therapy, including immune checkpoint inhibitors for tumor mutational burden-high or microsatellite instability-high tumors. Patients receiving CGP-based therapy had longer OS from expert panel discussion (16.0 vs. 10.8 months) compared to those who did not. Alterations in TP53, SMAD4, and NF1 were associated with worse OS. Interestingly, PTEN mutations were linked to improved survival. TP53 alterations were more common in left-sided CRC. CONCLUSION: Although some patients with CRC received CGP-guided therapy, a statistically significant survival benefit was not observed. However, TP53 and SMAD4 mutations were identified as negative prognostic markers, indicating their potential as targets for future drug development.

Humans↗

PubMed2026

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

OBJECTIVE: Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this. In England, VUS that fit the fetal phenotype and require little further evidence for upgrade are discussed at multidisciplinary team (MDT) meetings to determine whether to report. We review the VUS reported by one English laboratory that provides prenatal sequencing to half of England. METHOD: The laboratory's database was searched from 01/10/2020 to 30/04/2025 to ascertain all cases where a VUS was reported. Pregnancy outcomes were obtained from local clinical teams to determine whether the VUS status had been resolved. RESULTS: VUS were reported in 41/881 fetuses sequenced. Follow-up data were available for 38/41 cases, of which 23 were subsequently upgraded to likely pathogenic and 1 downgraded to likely benign. The most common reason for upgrade was new information from post-mortem or postnatal review (17/23). CONCLUSION: There is clinical utility in reporting VUS from prenatal sequencing following MDT discussion. Although reporting VUS leaves parents with uncertainty, follow up (including post-mortem when applicable) resolves this in over 50% of cases (79% of cases re-examined pre- or postnatally).

Humans↗