Empowering Your Loved Ones With Cascade Testing – Bioinformatics and Computational Biology
“๐ ๐๐ฆ๐ข๐ฅ๐ฒ ๐๐ข๐ฌ๐ญ๐จ๐ซ๐ฒ ๐๐ง๐ ๐๐๐ง๐๐๐ซ ๐๐ข๐ฌ๐ค: ๐๐ฆ๐ฉ๐จ๐ฐ๐๐ซ๐ข๐ง๐ ๐๐จ๐ฎ๐ซ ๐๐จ๐ฏ๐๐ ๐๐ง๐๐ฌ ๐ฐ๐ข๐ญ๐ก ๐๐๐ฌ๐๐๐๐ ๐๐๐ฌ๐ญ๐ข๐ง๐
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Hereditary cancer syndromes account for approximately 10% of all cancers. Cascade testingโtesting at-risk relatives to determine if they carry the familial pathogenic variantโis a crucial strategy for early detection and prevention. Despite its importance, cascade testing uptake remains low, typically below 30%.
๐๐ญ๐ซ๐๐ญ๐๐ ๐ข๐๐ฌ ๐๐จ๐ซ ๐๐ฆ๐ฉ๐ซ๐จ๐ฏ๐๐ฆ๐๐ง๐ญ
A recent systematic review highlights various intervention strategies aimed at improving the uptake of cascade testing. Here’s a breakdown of the findings and recommendations:
Intervention Strategies: The Effective Practice and Organization of Care (EPOC) taxonomy was used to classify interventions. These strategies, ranging from education and counseling to changes in delivery arrangements, have shown success in increasing testing rates.
Quality of Intervention Descriptions: The TIDieR checklist revealed an average score of 7.3 out of 12 for intervention descriptions. Key areas needing improvement include reporting modifications (18.5%), plans to assess fidelity/adherence (7.4%), and actual assessment of fidelity/adherence (7.4%).
Implementation Outcomes: Using Proctorโs Implementation Outcomes Framework, the review found that most studies examined only an average of 2.9 out of 8 implementation aspects. Cost, fidelity, and sustainability were the least reported outcomes, with only 3.7% of studies addressing them.
๐๐๐ฒ ๐
๐ข๐ง๐๐ข๐ง๐ ๐ฌ
๐๐๐ฅ๐ข๐ฏ๐๐ซ๐ฒ ๐๐ซ๐ซ๐๐ง๐ ๐๐ฆ๐๐ง๐ญ๐ฌ:ย This strategy showed the highest uptake rate at 68%, suggesting that restructuring how tests are offered can significantly impact participation.
๐๐ญ๐๐ง๐๐๐ซ๐๐ข๐ณ๐๐ญ๐ข๐จ๐ง ๐๐ง๐ ๐๐๐ฉ๐จ๐ซ๐ญ๐ข๐ง๐ : To improve replication and implementation of successful interventions, standardized guidelines and thorough reporting of implementation outcomes are essential.
Invitae’s Role in Advancing Genetic Testing
Invitae’s next-generation sequencing test checks for changes in 47 target genes, using evidence from various sources including published studies, public databases, and their internal curated database of cancer-related genetic variants. This comprehensive approach enhances the accuracy and reliability of genetic testing.
๐๐๐๐1 ๐๐ง๐ ๐๐๐๐2 ๐๐๐ซ๐ข๐๐ง๐ญ๐ฌ: Thousands of inherited variants in these genes have been identified, contributing to our understanding of hereditary cancer risks. However, the clinical significance of new variants may take time to establish, underscoring the need for ongoing research.”