Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review

• Published in: Npj genomic medicine Vol. 9; no. 1; pp. 26 - 10
• Main Authors: Chiang, Jianbang, Chua, Ziyang, Chan, Jia Ying, Sule, Ashita Ashish, Loke, Wan Hsein, Lum, Elaine, Ong, Marcus Eng Hock, Graves, Nicholas, Ngeow, Joanne
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 03.04.2024; Nature Publishing Group; Nature Portfolio
• Subjects: 692/700/1538; 692/700/228/2050/1512; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Fidelity; Gene Function; Gene Therapy; Genetic screening; Human Genetics; Internal Medicine; Intervention; Taxonomy
• ISSN: 2056-7944; 2056-7944
• DOI: 10.1038/s41525-024-00412-0

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.