TY - JOUR
T1 - Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: Consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition
AU - Kammermeier, Jochen
AU - Lamb, Christopher A
AU - Jones, Kelsey D. J.
AU - Anderson, Carl A.
AU - Baple, Emma
AU - Bolton, Chrissy
AU - Braggins, Helen
AU - Coulter, Tanya
AU - Gilmour, Kimberly C.
AU - Gregory, Vicki
AU - Hambleton, Sophie
AU - Hartley, David
AU - Hawthorne, A. Barney
AU - Hearn, Sarah
AU - Laurence, Arian
AU - Parkes, Miles
AU - Russell, Richard K.
AU - Speight, R Alexander
AU - Travis, Simon P L
AU - Wilson, David C
AU - Uhlig, Holm
N1 - Funding Information:
We are grateful to the British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) and to the Clinical Standards and Services Committee of the British Society of Gastroenterology (BSG) for commissioning and endorsing this guidance (Keith Lindley, BSPGHAN President, and Rupert Ransford, BSG Guidelines Lead). We thank Sue Hill and Alexandra Pickard of the Genomics Unit NHS England and NHS Improvement, members of the BSPGHAN Inflammatory Bowel Disease working group, and the BSG Clinical Services and Standards Committee, as well as Rofaida Desoki for their helpful comments on the manuscript. We are most grateful to the following individuals, stakeholders, and societies who, in addition to the authors, have provided valuable review and comment during the guideline development process, providing a personal and patient perspective: Crohn's and Colitis UK (Ruth Wakeman), The X-linked Lymphoproliferative Syndrome Research Trust, Crohn's in Childhood Research Association (Graham Lee and Margaret Lee), and the Chronic Granulomatous Disorder Society (Geoff Creamer and Claire Jeffries) and to Anish Mistry. The authors have not received specific funding for this research from any funding agency in the public, commercial, or not-for-profit sectors. HHU acknowledges research support from the Central and South NHS Genomic Medicine Service Alliance Transformational Project. HHU, CAL, and MP acknowledge research support from The Leona M and Harry B Helmsley Charitable Trust. This work was supported by the National Institutes of Health Research (NIHR) Biomedical Research Centres from Oxford, Newcastle, and Cambridge. The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care.
Funding Information:
We are grateful to the British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) and to the Clinical Standards and Services Committee of the British Society of Gastroenterology (BSG) for commissioning and endorsing this guidance (Keith Lindley, BSPGHAN President, and Rupert Ransford, BSG Guidelines Lead). We thank Sue Hill and Alexandra Pickard of the Genomics Unit NHS England and NHS Improvement, members of the BSPGHAN Inflammatory Bowel Disease working group, and the BSG Clinical Services and Standards Committee, as well as Rofaida Desoki for their helpful comments on the manuscript. We are most grateful to the following individuals, stakeholders, and societies who, in addition to the authors, have provided valuable review and comment during the guideline development process, providing a personal and patient perspective: Crohn's and Colitis UK (Ruth Wakeman), The X-linked Lymphoproliferative Syndrome Research Trust, Crohn's in Childhood Research Association (Graham Lee and Margaret Lee), and the Chronic Granulomatous Disorder Society (Geoff Creamer and Claire Jeffries) and to Anish Mistry. The authors have not received specific funding for this research from any funding agency in the public, commercial, or not-for-profit sectors. HHU acknowledges research support from the Central and South NHS Genomic Medicine Service Alliance Transformational Project. HHU, CAL, and MP acknowledge research support from The Leona M and Harry B Helmsley Charitable Trust. This work was supported by the National Institutes of Health Research (NIHR) Biomedical Research Centres from Oxford, Newcastle, and Cambridge. The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care.
Publisher Copyright:
© 2023 Elsevier Ltd
PY - 2023/3
Y1 - 2023/3
N2 - Genomic medicine enables the identification of patients with rare or ultra-rare monogenic forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients with monogenic IBD frequently experience extremely early onset of treatment-refractory disease, with complex extraintestinal disease typical of immunodeficiency. Since more than 100 monogenic disorders can present with IBD, new genetic disorders and variants are being discovered every year, and as phenotypic expression of the gene defects is variable, adaptive genomic technologies are required. Monogenic IBD has become a key area to establish the concept of precision medicine. Clear guidance and standardised, affordable applications of genomic technologies are needed to implement exome or genome sequencing in clinical practice. This joint British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition guideline aims to ensure that testing resources are appropriately applied to maximise the benefit to patients on a national scale, minimise health-care disparities in accessing genomic technologies, and optimise resource use. We set out the structural requirements for genomic medicine as part of a multidisciplinary team approach. Initiation of genomic diagnostics should be guided by diagnostic criteria for the individual patient, in particular the age of IBD onset and the patient's history, and potential implications for future therapies. We outline the diagnostic care pathway for paediatric and adult patients. This guideline considers how to handle clinically actionable findings in research studies and the impact of consumer-based genomics for monogenic IBD. This document was developed by multiple stakeholders, including UK paediatric and adult gastroenterology physicians, immunologists, transplant specialists, clinical geneticists, scientists, and research leads of UK genetic programmes, in partnership with patient representatives of several IBD and rare disease charities.
AB - Genomic medicine enables the identification of patients with rare or ultra-rare monogenic forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients with monogenic IBD frequently experience extremely early onset of treatment-refractory disease, with complex extraintestinal disease typical of immunodeficiency. Since more than 100 monogenic disorders can present with IBD, new genetic disorders and variants are being discovered every year, and as phenotypic expression of the gene defects is variable, adaptive genomic technologies are required. Monogenic IBD has become a key area to establish the concept of precision medicine. Clear guidance and standardised, affordable applications of genomic technologies are needed to implement exome or genome sequencing in clinical practice. This joint British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition guideline aims to ensure that testing resources are appropriately applied to maximise the benefit to patients on a national scale, minimise health-care disparities in accessing genomic technologies, and optimise resource use. We set out the structural requirements for genomic medicine as part of a multidisciplinary team approach. Initiation of genomic diagnostics should be guided by diagnostic criteria for the individual patient, in particular the age of IBD onset and the patient's history, and potential implications for future therapies. We outline the diagnostic care pathway for paediatric and adult patients. This guideline considers how to handle clinically actionable findings in research studies and the impact of consumer-based genomics for monogenic IBD. This document was developed by multiple stakeholders, including UK paediatric and adult gastroenterology physicians, immunologists, transplant specialists, clinical geneticists, scientists, and research leads of UK genetic programmes, in partnership with patient representatives of several IBD and rare disease charities.
U2 - 10.1016/S2468-1253(22)00337-5
DO - 10.1016/S2468-1253(22)00337-5
M3 - Article
SN - 2468-1253
VL - 8
SP - 271
EP - 286
JO - The Lancet Gastroenterology & Hepatology
JF - The Lancet Gastroenterology & Hepatology
IS - 3
ER -