“𝐅𝐚𝐦𝐢𝐥𝐲 𝐇𝐢𝐬𝐭𝐨𝐫𝐲 𝐚𝐧𝐝 𝐂𝐚𝐧𝐜𝐞𝐫 𝐑𝐢𝐬𝐤: 𝐄𝐦𝐩𝐨𝐰𝐞𝐫𝐢𝐧𝐠 𝐘𝐨𝐮𝐫 𝐋𝐨𝐯𝐞𝐝 𝐎𝐧𝐞𝐬 𝐰𝐢𝐭𝐡 𝐂𝐚𝐬𝐜𝐚𝐝𝐞 𝐓𝐞𝐬𝐭𝐢𝐧𝐠
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Hereditary cancer syndromes account for approximately 10% of all cancers. Cascade testing—testing at-risk relatives to determine if they carry the familial pathogenic variant—is a crucial strategy for early detection and prevention. Despite its importance, cascade testing uptake remains low, typically below 30%.
𝐒𝐭𝐫𝐚𝐭𝐞𝐠𝐢𝐞𝐬 𝐟𝐨𝐫 𝐈𝐦𝐩𝐫𝐨𝐯𝐞𝐦𝐞𝐧𝐭
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 Proctor’s 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.
𝐊𝐞𝐲 𝐅𝐢𝐧𝐝𝐢𝐧𝐠𝐬
𝐃𝐞𝐥𝐢𝐯𝐞𝐫𝐲 𝐀𝐫𝐫𝐚𝐧𝐠𝐞𝐦𝐞𝐧𝐭𝐬: This strategy showed the highest uptake rate at 68%, suggesting that restructuring how tests are offered can significantly impact participation.
𝐒𝐭𝐚𝐧𝐝𝐚𝐫𝐝𝐢𝐳𝐚𝐭𝐢𝐨𝐧 𝐚𝐧𝐝 𝐑𝐞𝐩𝐨𝐫𝐭𝐢𝐧𝐠: 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.
𝐁𝐑𝐂𝐀1 𝐚𝐧𝐝 𝐁𝐑𝐂𝐀2 𝐕𝐚𝐫𝐢𝐚𝐧𝐭𝐬: 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.”