Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
Abstract Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relatives to determine if they carry the familial pathogenic variant. Despite growing efforts targeted at improving cascade testing uptake, current literature continues to re...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2024-04-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-024-00412-0 |
| _version_ | 1827291381093105664 |
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| author | Jianbang Chiang Ziyang Chua Jia Ying Chan Ashita Ashish Sule Wan Hsein Loke Elaine Lum Marcus Eng Hock Ong Nicholas Graves Joanne Ngeow |
| author_facet | Jianbang Chiang Ziyang Chua Jia Ying Chan Ashita Ashish Sule Wan Hsein Loke Elaine Lum Marcus Eng Hock Ong Nicholas Graves Joanne Ngeow |
| author_sort | Jianbang Chiang |
| collection | DOAJ |
| description | Abstract Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relatives to determine if they carry the familial pathogenic variant. Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. We searched major databases using keywords and subject heading of “cascade testing”. Interventions proposed in each study were classified according to the Effective Practice and Organization of Care (EPOC) taxonomy. Quality of intervention description was assessed using the TIDieR checklist, and evaluation of implementation outcomes was performed using Proctor’s Implementation Outcomes Framework. Improvements in rates of genetic testing uptake was seen in interventions across the different EPOC taxonomy strategies. The average TIDieR score was 7.3 out of 12. Items least reported include modifications (18.5%), plans to assess fidelity/adherence (7.4%) and actual assessment of fidelity/adherence (7.4%). An average of 2.9 out of 8 aspects of implementation outcomes were examined. The most poorly reported outcomes were cost, fidelity and sustainability, with only 3.7% of studies reporting them. Most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream. Therefore, further adoption of standardized guidelines in reporting of interventions and formal assessment of implementation outcomes may help promote translation of these interventions into routine practice. |
| first_indexed | 2024-04-24T12:37:10Z |
| format | Article |
| id | doaj.art-4ab4c7dce71c4c23a40d867519a19c9f |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-04-24T12:37:10Z |
| publishDate | 2024-04-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-4ab4c7dce71c4c23a40d867519a19c9f2024-04-07T11:26:00ZengNature Portfolionpj Genomic Medicine2056-79442024-04-019111010.1038/s41525-024-00412-0Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic reviewJianbang Chiang0Ziyang Chua1Jia Ying Chan2Ashita Ashish Sule3Wan Hsein Loke4Elaine Lum5Marcus Eng Hock Ong6Nicholas Graves7Joanne Ngeow8Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre SingaporeCancer Genetics Service, Division of Medical Oncology, National Cancer Centre SingaporeLee Kong Chian School of Medicine, Nanyang Technological UniversityYong Loo Lin School of Medicine, National University of SingaporeYong Loo Lin School of Medicine, National University of SingaporeHealth Services & Systems Research, Duke-NUS Medical SchoolHealth Services & Systems Research, Duke-NUS Medical SchoolHealth Services & Systems Research, Duke-NUS Medical SchoolCancer Genetics Service, Division of Medical Oncology, National Cancer Centre SingaporeAbstract Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relatives to determine if they carry the familial pathogenic variant. Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. We searched major databases using keywords and subject heading of “cascade testing”. Interventions proposed in each study were classified according to the Effective Practice and Organization of Care (EPOC) taxonomy. Quality of intervention description was assessed using the TIDieR checklist, and evaluation of implementation outcomes was performed using Proctor’s Implementation Outcomes Framework. Improvements in rates of genetic testing uptake was seen in interventions across the different EPOC taxonomy strategies. The average TIDieR score was 7.3 out of 12. Items least reported include modifications (18.5%), plans to assess fidelity/adherence (7.4%) and actual assessment of fidelity/adherence (7.4%). An average of 2.9 out of 8 aspects of implementation outcomes were examined. The most poorly reported outcomes were cost, fidelity and sustainability, with only 3.7% of studies reporting them. Most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream. Therefore, further adoption of standardized guidelines in reporting of interventions and formal assessment of implementation outcomes may help promote translation of these interventions into routine practice.https://doi.org/10.1038/s41525-024-00412-0 |
| spellingShingle | Jianbang Chiang Ziyang Chua Jia Ying Chan Ashita Ashish Sule Wan Hsein Loke Elaine Lum Marcus Eng Hock Ong Nicholas Graves Joanne Ngeow Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review npj Genomic Medicine |
| title | Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review |
| title_full | Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review |
| title_fullStr | Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review |
| title_full_unstemmed | Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review |
| title_short | Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review |
| title_sort | strategies to improve implementation of cascade testing in hereditary cancer syndromes a systematic review |
| url | https://doi.org/10.1038/s41525-024-00412-0 |
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