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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
dataset
posted on 2023-09-19, 03:19 authored by Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. WardAdditional file 1: Table S1. Clinical information for all individuals recruited inclusive of index cases and family members. Table S2. Recorded risk-management strategies and related parameters. Table S3. Virtual gene panels used. Table S4. Variants identified within the 195 index cases that were prioritised for review at the multidisciplinary team meetings. Table S5. Estimation of average costs per affected individual for testing practice using targeted genes or gene panels, or whole genome sequencing. Table S6. Comparison of the costs and consequences of the different testing strategies. Table S7. Marginal analysis of the costs and consequences of the different testing strategies. Table S8. Summary of changes made to risk-management of index cases who were found to carry a likely pathogenic or pathogenic variant.
