Characterization of variant reclassification and patient re‐contact in a cancer genetics clinic. Issue 6 (28th June 2022)

• Record Type: Journal Article
• Authors: Muir, Sarah M.; Reagle, Rachel
• Is Part Of: Journal of genetic counseling. Volume 31:Issue 6(2022)
• Page Start: 1261
• Page End: 1272
• Publication Date: 2022-06-28
• Subjects: cancer genetics -- genetics services -- reclassification -- re‐contact -- variant classification -- variant of uncertain significance (VUS); Genetic counseling -- Periodicals; 616.042
• DOI: 10.1002/jgc4.1600
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re‐contact are managed. This study aimed to describe the process of variant reclassification and subsequent patient re‐contact at a comprehensive cancer genetic counseling service in a large metropolitan medical center with several statewide satellite locations. A retrospective chart review was performed to identify reclassified variants between 1/1/1997 and 12/1/2020. In total, 8.4% (211/2503) of variants were reclassified over the 24‐year period, which includes multiple cases involving the same unique variant. Several variants underwent more than one reclassification, resulting in 232 total reclassifications among 194 individuals. Nearly all reclassifications were prompted by the laboratory (99.1%; 230/232) rather than the genetics clinic staff. Overall, 10.3% (24/232) of all reclassifications were upgrades, but only 9.1% (21/232) led to a change in management recommendations. The median time for variant reclassification was 1.7 years (interquartile range [IQR] = 0.8–3.2 years). There was no statistically significant difference in the time to reclassification for White patients (median = 1.6 years; IQR = 0.8–2.8 years) compared to non‐White patients (median = 2.0 years; IQR = 0.9–3.7 years; Mann–Whitney U = 4, 764.0, p = 0.066). Patient re‐contact was attempted for 97.4% (226/232) of variants and was always performed by a genetic counselor, most often through a mailed letter (85.8%, 194/226). Specifically for reclassifications that led to a change in management recommendations, re‐contact was always attempted, most often through combined telephone and mailed letter (95.2%; 20/21). Overall, the median time from reclassification to attempted patient re‐contact was 13 days (range: 0–589 days). The characterization of this clinic's reclassification and re‐contact procedures can serve as an example for other genetics clinics trying to incorporate re‐contact into their workflow.