Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022
Background: Cancer Predisposition Syndromes (CPSs) have been identified in 7–15 % of children with cancer. The possibilities for germline genetic testing have increased in recent years, presenting new opportunities but also challenges. There is currently no consensus on germline genetic testing in c...
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Elsevier
2024-12-01
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| Series: | EJC Paediatric Oncology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772610X24000357 |
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| author | Jette J. Bakhuizen Franck Bourdeaut Karin A.W. Wadt Christian P. Kratz Marjolijn C.J. Jongmans Nicolas Waespe |
| author_facet | Jette J. Bakhuizen Franck Bourdeaut Karin A.W. Wadt Christian P. Kratz Marjolijn C.J. Jongmans Nicolas Waespe |
| author_sort | Jette J. Bakhuizen |
| collection | DOAJ |
| description | Background: Cancer Predisposition Syndromes (CPSs) have been identified in 7–15 % of children with cancer. The possibilities for germline genetic testing have increased in recent years, presenting new opportunities but also challenges. There is currently no consensus on germline genetic testing in children with cancer in diagnostic settings. Methods: The International Society of Pediatric Oncology Europe (SIOPE) Host Genome Working Group used a consensus development conference method to reach agreement on four key topics: Who do we test? Which genes do we test? What do we disclose? How do we evaluate the benefits of testing? Results: The Working Group members agreed that: (1) All children with cancer should undergo clinical screening for their risk of harboring a CPS. (2) Targeted genetic testing based on clinical indication is recommended. Comprehensive CPS gene panels with more than 100–150 genes for all children with cancer should preferably be evaluated within research settings. (3) Smaller actionable gene panels can be considered including genes supporting diagnosis or influencing treatment decisions. (4) Clear pre-test information and consenting processes that highlight potential outcomes and implications of germline genetic testing are imperative. (5) Consequences of genetic testing, treatment adaption, and tumor surveillance in children with CPSs, including economic impact and psychosocial factors, should be further explored. Conclusions: These consensus-based recommendations provide guidance on germline genetic testing in children with cancer. Regular review of these recommendations is essential. Collaboration and the use of data sharing platforms can further improve screening procedures and its impact on care. |
| format | Article |
| id | doaj-art-80ac3cc002404966bcc44cb173a75ae0 |
| institution | Kabale University |
| issn | 2772-610X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EJC Paediatric Oncology |
| spelling | doaj-art-80ac3cc002404966bcc44cb173a75ae02024-12-13T11:08:28ZengElsevierEJC Paediatric Oncology2772-610X2024-12-014100176Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022Jette J. Bakhuizen0Franck Bourdeaut1Karin A.W. Wadt2Christian P. Kratz3Marjolijn C.J. Jongmans4Nicolas Waespe5Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the NetherlandsParis-Cité University, SIREDO pediatric cancer center & INSERMU830, Institut Curie, Paris, FranceDepartment of Clinical Genetics, Copenhagen University Hospital Righospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DenmarkPediatric Hematology and Oncology, Hannover Medical School, Hannover, GermanyPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the NetherlandsDivision of Pediatric Hematology and Oncology, University Children’s Hospital Bern, Switzerland; Platform of Pediatric Onco-Hematology research (CANSEARCH research Laboratory), Department of Pediatrics, Gynecology, and Obstetrics, University of Geneva, Switzerland; Correspondence to: INSELSPITAL, University Hospital Bern, Department of Pediatrics, Division of Pediatric Hematology/ Oncology, Freiburgstrasse 15, Bern 3010, Switzerland.Background: Cancer Predisposition Syndromes (CPSs) have been identified in 7–15 % of children with cancer. The possibilities for germline genetic testing have increased in recent years, presenting new opportunities but also challenges. There is currently no consensus on germline genetic testing in children with cancer in diagnostic settings. Methods: The International Society of Pediatric Oncology Europe (SIOPE) Host Genome Working Group used a consensus development conference method to reach agreement on four key topics: Who do we test? Which genes do we test? What do we disclose? How do we evaluate the benefits of testing? Results: The Working Group members agreed that: (1) All children with cancer should undergo clinical screening for their risk of harboring a CPS. (2) Targeted genetic testing based on clinical indication is recommended. Comprehensive CPS gene panels with more than 100–150 genes for all children with cancer should preferably be evaluated within research settings. (3) Smaller actionable gene panels can be considered including genes supporting diagnosis or influencing treatment decisions. (4) Clear pre-test information and consenting processes that highlight potential outcomes and implications of germline genetic testing are imperative. (5) Consequences of genetic testing, treatment adaption, and tumor surveillance in children with CPSs, including economic impact and psychosocial factors, should be further explored. Conclusions: These consensus-based recommendations provide guidance on germline genetic testing in children with cancer. Regular review of these recommendations is essential. Collaboration and the use of data sharing platforms can further improve screening procedures and its impact on care.http://www.sciencedirect.com/science/article/pii/S2772610X24000357Pediatric cancerCancer screeningGermline geneticGenetic counsellingCancer predispositionFamilial cancer |
| spellingShingle | Jette J. Bakhuizen Franck Bourdeaut Karin A.W. Wadt Christian P. Kratz Marjolijn C.J. Jongmans Nicolas Waespe Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 EJC Paediatric Oncology Pediatric cancer Cancer screening Germline genetic Genetic counselling Cancer predisposition Familial cancer |
| title | Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 |
| title_full | Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 |
| title_fullStr | Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 |
| title_full_unstemmed | Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 |
| title_short | Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 |
| title_sort | genetic testing for childhood cancer predisposition syndromes controversies and recommendations from the siope host genome working group meeting 2022 |
| topic | Pediatric cancer Cancer screening Germline genetic Genetic counselling Cancer predisposition Familial cancer |
| url | http://www.sciencedirect.com/science/article/pii/S2772610X24000357 |
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