{"title":"A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre.","authors":"E Chen, R McGowan, M G Shaikh","doi":"10.1007/s00431-026-06982-8","DOIUrl":null,"url":null,"abstract":"<p><p>Multidisciplinary care is vital to the smooth running of patient-centred care, especially in the context of rare conditions. This service evaluation aimed to determine the potential benefits of a combined paediatric endocrine genetic clinic at a tertiary hospital, including increased diagnostic rates. Retrospective review of case notes of patients who attended the combined clinic at the Royal Hospital for Children, Glasgow, between 2022 and 2024 was done. Data collected included the type of genetic testing which had been performed, diagnostic yield and clinical outcomes. The data were evaluated qualitatively. A total of 21 patients (median age 5.3 years, range 6 months to 21 years) were included. Then, 43% were given a new genetic diagnosis, the greatest diagnostic yield occurring from whole-exome sequencing and MS-MLPA, with 67% of patients referred for further specialist input or investigations after attendance at the clinic.</p><p><strong>Conclusion: </strong> This study brings to light the benefits of a multidisciplinary endocrine-genetics clinic in the management of an under-researched patient cohort. It offers a streamlined diagnostic pathway with high diagnostic yield and improved patient experience. This clinic also highlighted the need for specialist input after genetic diagnoses were made to improve long-term health outcomes. However, limitations are its retrospective nature and absence of patient-reported outcomes; there is a need for future prospective research.</p><p><strong>What is known: </strong>• The results of genetic testing can be challenging to interpret without specialist input. • MDT clinics improve care coordination and diagnostic decision-making in complex multisystem conditions.</p><p><strong>What is new: </strong>• This study is the first UK-based study evaluating a combined paediatric endocrine-genetics clinic. • The clinic streamlined care by reducing the need for multiple appointments, directed genetic testing and tailoring management plans.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 6","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00431-026-06982-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Multidisciplinary care is vital to the smooth running of patient-centred care, especially in the context of rare conditions. This service evaluation aimed to determine the potential benefits of a combined paediatric endocrine genetic clinic at a tertiary hospital, including increased diagnostic rates. Retrospective review of case notes of patients who attended the combined clinic at the Royal Hospital for Children, Glasgow, between 2022 and 2024 was done. Data collected included the type of genetic testing which had been performed, diagnostic yield and clinical outcomes. The data were evaluated qualitatively. A total of 21 patients (median age 5.3 years, range 6 months to 21 years) were included. Then, 43% were given a new genetic diagnosis, the greatest diagnostic yield occurring from whole-exome sequencing and MS-MLPA, with 67% of patients referred for further specialist input or investigations after attendance at the clinic.
Conclusion: This study brings to light the benefits of a multidisciplinary endocrine-genetics clinic in the management of an under-researched patient cohort. It offers a streamlined diagnostic pathway with high diagnostic yield and improved patient experience. This clinic also highlighted the need for specialist input after genetic diagnoses were made to improve long-term health outcomes. However, limitations are its retrospective nature and absence of patient-reported outcomes; there is a need for future prospective research.
What is known: • The results of genetic testing can be challenging to interpret without specialist input. • MDT clinics improve care coordination and diagnostic decision-making in complex multisystem conditions.
What is new: • This study is the first UK-based study evaluating a combined paediatric endocrine-genetics clinic. • The clinic streamlined care by reducing the need for multiple appointments, directed genetic testing and tailoring management plans.
期刊介绍：
The European Journal of Pediatrics (EJPE) is a leading peer-reviewed medical journal which covers the entire field of pediatrics. The editors encourage authors to submit original articles, reviews, short communications, and correspondence on all relevant themes and topics.
EJPE is particularly committed to the publication of articles on important new clinical research that will have an immediate impact on clinical pediatric practice. The editorial office very much welcomes ideas for publications, whether individual articles or article series, that fit this goal and is always willing to address inquiries from authors regarding potential submissions. Invited review articles on clinical pediatrics that provide comprehensive coverage of a subject of importance are also regularly commissioned.
The short publication time reflects both the commitment of the editors and publishers and their passion for new developments in the field of pediatrics.
EJPE is active on social media (@EurJPediatrics) and we invite you to participate.
EJPE is the official journal of the European Academy of Paediatrics (EAP) and publishes guidelines and statements in cooperation with the EAP.
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