Genetics in Medicine最新文献

{"title":"How Variants of Uncertain Significance Impact Clinical Decisions: A Systematic Review.","authors":"Shiv Ayappa, Steven Joffe, Anne-Marie Laberge, Russell T Nye, Molly Hess, Katharine P Callahan","doi":"10.1016/j.gim.2026.102593","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102593","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the extent to which variants of uncertain significance (VUS) impact clinical decisions.</p><p><strong>Methods: </strong>We conducted a systematic review of studies reporting the impact of VUS on clinical decisions. We extracted quantitative data on VUS' impact for grouped analysis. We calculated and compared odds ratios of the specified decisions for patients found to have benign results, VUS, and pathogenic results.</p><p><strong>Results: </strong>We included 45 articles in our overall review and 21 in our quantitative analysis. The overall review (n=45) showed that VUS impact at least some care decision in 67% of studies. The quantitative analysis (n=21) suggested that this impact clusters into three descriptive patterns, where VUS were treated as 1) benign; 2) \"weak positives\" or 3) pathogenic. VUS more commonly impact clinical decisions if studies were in fields outside of oncology, were prospective, reported clinician-centered versus patient-centered decisions, and reported screening versus definitive care decisions.</p><p><strong>Conclusion: </strong>Despite being limited by the small, heterogenous studies included, this analysis suggests that VUS impact at least some clinical decision in a majority of reports.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102593"},"PeriodicalIF":6.2,"publicationDate":"2026-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147874007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.","authors":"Bo Yuan, Layla A Abushamat, Stacey Pereira, Surya Narayan Mulukutla, Grace E Tietz, Eric Venner, Sara E Kalla, Breanna Lee, Donna Muzny, Ginger Metcalf, Mullai Murugan, Sarah H Elsea, Senkottuvelan Kadirvel, Lele Li, Joshi Stephen, Shengfeng Xu, Victoria Yi, Monica Sulit, Christie L Kovar, Kimberly Walker, Marie-Claude Gingras, Jianhong Hu, Fei Yan, Taeko Gerber, Viktoriya Korchina, C Michael Fordis, Ruchi Gaba, Mahesh Changlani, Herschl Silberman, Hadley Stevens Smith, Christine M Eng, Jennifer E Posey, Clarisa Medina, Lisa R Treviño, Christie M Ballantyne, Richard A Gibbs, Ashok Balasubramanyam","doi":"10.1016/j.gim.2026.102595","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102595","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to apply cardiometabolic genetic testing in a community setting with a predominantly Hispanic population and assess feasibility and perspectives towards genetic testing.</p><p><strong>Methods: </strong>A genome sequencing (GS)-based genetic panel for cardiometabolic disorders (177 genes related to monogenic conditions, two LPA risk alleles, two pharmacogenomic (PGx) loci, and ancestry-adjusted polygenic risk scores (PRS) for type 2 diabetes (T2D) and coronary artery disease (CAD)) was deployed in community cardiology and endocrinology clinics in South Texas. A survey on perceptions towards genetic testing was administered after return of results.</p><p><strong>Results: </strong>Testing was completed for 776 patients (18-92 years old, 92% Hispanic). 26 patients (3.4%) were identified with a pathogenic or likely pathogenic variant in a monogenic disease gene, including 17 diagnostic and nine secondary findings. Additionally, 291 (37.5%), 181 (23.3%), and 298 (38.4%) patients were identified with at least one LPA risk allele, PGx finding, or elevated PRS risk, respectively. Participants perceived the testing to be beneficial with few concerns.</p><p><strong>Conclusion: </strong>This study expanded cardiometabolic genetic testing to a predominantly Hispanic population in a community setting, providing actionable guidance for disease diagnosis, intervention, and preventative care with a favorable patient perception.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102595"},"PeriodicalIF":6.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nationwide Newborn Screening for Mucopolysaccharidoses in Taiwan: Impact, Early Diagnosis, and Clinical Advances over the Past Decade.","authors":"Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Jun-Yi Wu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin","doi":"10.1016/j.gim.2026.102596","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102596","url":null,"abstract":"<p><strong>Purpose: </strong>Taiwan launched a nationwide newborn screening (NBS) program for mucopolysaccharidoses (MPS) in August 2015. This study evaluated the diagnostic yield, timing of diagnosis, and downstream clinical management outcomes of this population-based NBS program.</p><p><strong>Methods: </strong>As of March 31, 2025, over 838,585 infants were screened for MPS I, MPS II, MPS IVA, and MPS VI. First-tier screening was based on enzyme activity measurement from dried blood spots (DBS) using LC-MS/MS. Screen-positive infants underwent comprehensive confirmatory evaluation, including quantitative urinary glycosaminoglycan (GAG) analysis by LC-MS/MS, leukocyte enzyme assays, and molecular genetic testing using Sanger sequencing or next-generation sequencing.</p><p><strong>Results: </strong>A total of 838,585 infants were screened for MPS I, 727,684 for MPS II (including 378,555 males), 351,917 for MPS IVA, and 587,158 for MPS VI. Among 437 infants referred for confirmatory testing, 7 were diagnosed with MPS I, 14 with MPS II, and 10 with MPS IVA. The corresponding prevalence rates were 0.83, 1.92 (3.77 per 100,000 male live births), and 2.84 per 100,000 live births, respectively. All confirmed cases were asymptomatic at the time of diagnosis.</p><p><strong>Conclusion: </strong>Implementation of the nationwide NBS program was associated with a reduction in the average age at diagnosis from 4.3 years to 0.2 years and facilitated timely initiation of disease-specific interventions, including enzyme replacement therapy and hematopoietic stem cell transplantation. In addition, the program facilitated the identification of novel MPS-related variants in the Taiwanese population, contributing to improved diagnostic interpretation and long-term disease monitoring. These findings support the clinical utility of newborn screening for rare lysosomal storage disorders and provide evidence to inform the development of similar programs in other regions.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102596"},"PeriodicalIF":6.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Best Practices in Demographic Data Collection for Equity, Diversity, and Inclusion in Rare Disease Research: A Systematic Review.","authors":"Israa Sinan, Molly Johnston, Ashish Marwaha","doi":"10.1016/j.gim.2026.102592","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102592","url":null,"abstract":"<p><strong>Purpose: </strong>Rare diseases affect small, dispersed populations and are often studied through multisite designs where equity-relevant demographic data are essential for inclusive recruitment and accurate interpretation. This study examined how sociodemographic variables are collected and reported in rare disease research and evaluated their alignment with the PROGRESS-Plus framework, which outlines Place of residence, Race/ethnicity/culture/language, Occupation, Gender/sex, Religion, Education, Socioeconomic status, social capital, and additional \"Plus\" factors such as age and disability status.</p><p><strong>Methods: </strong>A systematic review of peer-reviewed articles was conducted alongside an environmental scan of demographic instruments from governmental, health-system, academic, and rare disease organizations. Screening and extraction coded variables as reported, indirectly derivable, or not reported and compared them with established standards.</p><p><strong>Results: </strong>Of 647 records identified, 37 met inclusion criteria. Reporting was dominated by age and sex, while most other equity-relevant variables including gender identity, sexual orientation, race/ethnicity, distinctions-based Indigenous identity, socioeconomic position, language, migration, disability/function, religion, occupation, and social capital, were inconsistently captured. Environmental scan instruments were more comprehensive, revealing a capture-to-reporting gap.</p><p><strong>Conclusion: </strong>Demographic reporting in rare disease research is heterogeneous and insufficient for equity-focused analyses. A concise, standards-aligned sociodemographic dataset is needed to improve transparency, comparability, and detection of inequities across rare disease populations.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102592"},"PeriodicalIF":6.2,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147814254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.","authors":"Deborah I Ritter, Mark Mandell, Christine Preston, Marina DiStefano, Sahia M Bryant, Nadia Carstens, Rolanda S Julius, Aimé Lumaka, Madhuri Hedge, Joanne Ngeow, Joannella Morales, Matt W Wright, Heidi L Rehm, Sharon E Plon","doi":"10.1016/j.gim.2026.102590","DOIUrl":"10.1016/j.gim.2026.102590","url":null,"abstract":"<p><strong>Purpose: </strong>The Clinical Genome Resource (ClinGen) is creating a central resource of clinically relevant genetic knowledge to improve genomic medicine. Dissemination and use of the ClinGen Resource is essential to ensure broad community uptake. We report on experiences and sustained use of ClinGen tools through engaging international genetics groups based in India, Africa and Singapore in variant classification training workshops using the ClinGen Variant Curation Interface (VCI).</p><p><strong>Methods: </strong>We developed pre and post workshop questionnaires and analyzed ClinGen tool use following the workshops. We evaluated organizational aspects and costs of creating a dedicated ClinGen VCI instance for each workshop.</p><p><strong>Results: </strong>The workshops yielded >200 participants, with local scientists as essential participants. While ∼55% of participants were unfamiliar with variant classification, we found ∼79% were likely to use the VCI after the workshop. Further, we identified about ∼10% of workshop participants created permanent accounts. We estimate costs at ∼$3 per VCI instance.</p><p><strong>Conclusion: </strong>Our efforts highlight the yield of international workshops to sustained use of ClinGen's curation tools and identify areas for future consideration such as creating user-groups by experience level, and the importance of local scientist engagement in workshop deployment and organizational aspects.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102590"},"PeriodicalIF":6.2,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147814264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease.","authors":"Deborah I Ritter, Chansonette Badduke, Kurston Doonanco, Hio-Chung Kang, Tina Pesaran, Sarah Ridd, Clare Sheen, Kirsten M Farncombe, Rachel H Giles, Minjie Luo, Neta Pipko, Chung Ting Tsoi, Kelly McGoldrick, Chloe Mighton, Razan H Abu Kashabeh, Maria C Sanabria-Salas, Yazan Talab, Kamalika B Deka, Michelle F Jacobs, Elif Tuzlali, Bailey Gallinger, Malachi Griffith, Kilannin Krysiak, Jerry Machado, Eamonn R Maher, Amit Tirosh, Raymond H Kim","doi":"10.1016/j.gim.2026.102589","DOIUrl":"10.1016/j.gim.2026.102589","url":null,"abstract":"<p><strong>Purpose: </strong>The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the VHL gene, including phenotype-driven and evidence-based criteria, utilizing somatic and germline mutational hotspots, along with functional and in-silico data.</p><p><strong>Methods: </strong>Using the American College of Medical Genetics and Genomics (ACMG) guidance and the ClinGen Sequence Variant Interpretation (SVI) recommendations, the VCEP made substantial modifications to 8 evidence codes (PVS1, PS3, PS4, PM1, BS2, BS3, BS4, BP5), while 14 had minor changes, and 6 were not used (PM3, PP2, BP1, PP4, PP5/BP6). The VHL VCEP applied two literature sets of over >428 papers in Clinical Interpretations of Variants in Cancer (CIViC) and >8700 structured annotations using Hypothesis.</p><p><strong>Results: </strong>From 31 pilot variants, 15 remained pathogenic/likely pathogenic, 9 resolved to benign through the stand-alone benign evidence code while 7 variants with initial uncertain classifications lacking additional evidence, remained uncertain.</p><p><strong>Conclusion: </strong>The versioned VHL VCEP specifications are publicly available in the ClinGen Criteria Specifications Registry and will enhance the transparency and consistency of variant classifications for this highly sequenced hereditary cancer gene.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102589"},"PeriodicalIF":6.2,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147814269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools","authors":"Ofer Isakov ,&nbsp;Reut Ashwal-Fluss ,&nbsp;Dina Marek-Yagel ,&nbsp;Shamil Sunyaev ,&nbsp;Shay Ben-Shachar","doi":"10.1016/j.gim.2026.102557","DOIUrl":"10.1016/j.gim.2026.102557","url":null,"abstract":"<div><h3>Purpose</h3><div>In silico pathogenicity prediction tools performance can vary depending on molecular and clinical contexts. This study aims to assess the performance of commonly used tools under different conditions. Additionally, the study aims to recalibrate score thresholds to better reflect evidence of pathogenicity.</div></div><div><h3>Methods</h3><div>ClinVar variants were stratified by allele frequency, conservation, mode of inheritance, and disease category. For each subset, Bayesian methods were used to recalibrate thresholds corresponding to the levels of evidence defined by the American College of Medical Genetics.</div></div><div><h3>Results</h3><div>Tools exhibited reduced accuracy for variants with higher allele frequencies and for variants located in regions with high conservation. Variants affecting autosomal recessive and X-linked genes were more accurately classified compared with those affecting autosomal dominant genes. Recalibrated thresholds consistently showed higher odds of correctly estimating pathogenicity (OR=3.78 [1.74, 8.55]; <em>P</em> &lt; .001) and produced significantly higher scores for known pathogenic variants and lower scores for benign/likely benign. This improved discriminatory performance was particularly notable in variants found in low-conservation regions and autosomal recessive genes.</div></div><div><h3>Conclusion</h3><div>Pathogenicity prediction tools should be evaluated using various variant subsets during development. Score threshold recalibration extends the range of evidence and improves overall pathogenicity probability estimation and classification.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 5","pages":"Article 102557"},"PeriodicalIF":6.2,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147573672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.","authors":"Enyonam Edoh, Chloe Mighton, Eleanor Broeren, Vanessa Gitau, Julie Ratliff, Marina DiStefano, Sandra Gadalla, Amanda Girod, Madeline Hughes, Hannah McCurry, Mayher Patel, Emma H Wilcox, Moosa Mohammadi, Cate Paschal, Elaine Spector, Andrew O M Wilkie, Elaine Zackai, Yuri A Zarate, John M Graham, Ethylin Wang Jabs, Pedro A Sanchez-Lara","doi":"10.1016/j.gim.2026.102587","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102587","url":null,"abstract":"<p><strong>Purpose: </strong>The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. This work summarizes the findings of the Cranio GCEP during its first round of curation, aiming to provide expert guidance for clinical validity of gene-disease relationships in the context of craniofacial malformations.</p><p><strong>Methods: </strong>The curation scope of the GCEP was separated into multiple rounds based on frequency of occurrence and uniqueness of associated features. Twelve genes (EFNB1, ERF, FGFR1, FGFR2, FGFR3, MEGF8, MSX2, POR, RAB23, SKI, TCF12, and TWIST1) were selected, based on review of literature, multi-gene sequencing panels from the Genetic Testing Registry (GTR), and expert input.</p><p><strong>Results: </strong>On average, there were two disease relationships per gene, ranging from one to six. In total, the Cranio GCEP curated 23 gene-disease pairs. Of these curations, 17 (74%) classifications reached Definitive, 3 (13%) Moderate, and 3 (13%) Limited.</p><p><strong>Conclusions: </strong>The classification of gene-disease relationships in round one curation of the Cranio GCEP has contributed to systematically evaluating the validity of gene-disease relationships for craniofacial malformations to establish accurate testing panels and improve patient care. By bringing together content experts to focus on gene curation, the Cranio GCEP facilitates education, new collaboration, and encourages publication of clinical cases in previously discovered genes in order to reflect the broadening spectrum of gene-disease relationships in the craniofacial malformation and craniosynostosis literature.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102587"},"PeriodicalIF":6.2,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer risks for ATM variant heterozygotes.","authors":"Yue Jiao, David E Goldgar, Dorothée Le Gal, Eve Cavaciuti, Juana Beauvallet, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Jessica Le Gall, Catherine Dubois d'Enghien, Hélène Delhomelle, Mathilde Warcoin, Arjeta Kluna, Bruno Buecher, Laurent Castéra, Chrystelle Colas, Louise Crivelli, Veronica Cusin, Céline Garrec, Lisa Golmard, Cornel Popovici, Nicolas Sevenet, Ayman Al Saati, Hélène Zattara-Cannoni, Audrey Combes, Isabelle Coupier, Jérôme Lemonnier, Olivier Caron, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur","doi":"10.1016/j.gim.2026.102591","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102591","url":null,"abstract":"<p><strong>Purpose: </strong>Cancer risks of individuals heterozygous for an ATM pathogenic or predicted pathogenic variant (PV/PPV) remain imprecise to guide optimal clinical management. Therefore, we aimed to estimate these risks in different family settings.</p><p><strong>Methods: </strong>Data were collected on 141 ataxia-telangiectasia families, 398 Hereditary Breast and Ovarian Cancer families and 96 families with a history of pancreatic cancer enrolled in French nation-wide epidemiological studies CoF-AT2, TUMOSPEC or GENESIS. Hazard ratios (HR) and cumulative risks were estimated using a modified segregation analysis method.</p><p><strong>Results: </strong>An increased risk of breast and pancreatic cancers was observed for PV/PPV heterozygotes, and HRs were similar in the three family sets. When combined, HR were 4.0 (95%CI:2.9-5.6) for female breast cancer, 6.6 (95%CI:3.6-12.1) for female pancreatic cancer, and 2.8 (95%CI:1.4-5.5) for male pancreatic cancer. In birth cohort 1960-1969, female heterozygotes had a cumulative risk of breast cancer of 9.9% (95%CI:7.1%-13%) by age 50, and of 40% (95%CI:31%-51%) by age 80. Their risk of pancreatic cancer by age 80 was 8.1% (95%CI:4.3%-14%). The risk of male pancreatic cancer by age 80 was 5.1% (95%CI:2.4%-9.3%). No increased risk of ovarian and prostate cancers was observed.</p><p><strong>Conclusion: </strong>Our findings will help in the clinical management of families where an ATM PV/PPV segregates.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102591"},"PeriodicalIF":6.2,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polygenic Risk Scores in Healthcare Contexts: Expanding Roles, Redrawing Boundaries?","authors":"Lara Andreoli, Kris Dierickx, Hilde Peeters","doi":"10.1016/j.gim.2026.102588","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102588","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102588"},"PeriodicalIF":6.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}