当前位置： SCI文献检索 > JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION期刊下所有文献 > Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN.

Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN.

Abstract：

BACKGROUND:It is important to identify patients with monogenic IBD as management may differ from classical IBD. In this position statement we formulate recommendations for the use of genomics in evaluating potential monogenic causes of IBD across age groups. METHODS:The consensus included paediatric IBD specialists from the Paediatric IBD Porto group of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and specialists from several monogenic IBD research consortia. We defined key topics and performed a systematic literature review to cover indications, technologies (targeted panel, exome and genome sequencing), gene panel setup, cost-effectiveness of genetic screening, and requirements for the clinical care setting. We developed recommendations that were voted upon by all authors and Porto group members (32 voting specialists). RESULTS:We recommend next-generation DNA-sequencing technologies to diagnose monogenic causes of IBD in routine clinical practice embedded in a setting of multidisciplinary patient care. Routine genetic screening is not recommended for all IBD patients. Genetic testing should be considered depending on age of IBD-onset (infantile IBD, very early-onset IBD, paediatric or young adult IBD), and further criteria, such as family history, relevant comorbidities, and extraintestinal manifestations. Genetic testing is also recommended in advance of hematopoietic stem cell transplantation. We developed a diagnostic algorithm that includes a gene panel of 75 monogenic IBD genes. Considerations are provided also for low resource countries. CONCLUSIONS:Genomic technologies should be considered an integral part of patient care to investigate patients at risk for monogenic forms of IBD.

journal_name

J Pediatr Gastroenterol Nutr

journal_title

Journal of pediatric gastroenterology and nutrition

authors

Uhlig HH,Charbit-Henrion F,Kotlarz D,Shouval DS,Schwerd T,Strisciuglio C,de Ridder L,van Limbergen J,Macchi M,Snapper SB,Ruemmele FM,Wilson DC,Travis SPL,Griffiths AM,Turner D,Klein C,Muise AM,Russell RK,Paediatric IB

doi

10.1097/MPG.0000000000003017

subject

Has Abstract

pub_date

2020-12-16 00:00:00

eissn

0277-2116

issn

1536-4801

pii

00005176-900000000-95819

journal_volume

Publish Ahead of Print

pub_type

杂志文章

在线工具

Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN.