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Effects of Cancer Genetic Panel Testing

Obstet Gynecol; ePub 2018 May 7; Frost, et al

Genetic panel testing is associated with significant management changes in individuals at risk for cancer or cancer syndromes, and obstetrics and gynecology providers should routinely refer at-risk patients for genetic counseling and testing when clinically appropriate. This according to a retrospective chart review of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Among the details:

  • Of 671 at-risk patients who underwent genetic testing, 66 (9.8%) had BRCA-limited testing; of these, 26 of 671 (3.9%) had a deleterious or likely pathogenic mutation.
  • Expanded panel testing was done for 560 of 671 patients (83.5%), and abnormal results were found in 65 of 671 (9.7%).
  • Abnormal genetic testing was associated with increased surveillance in 96% of those with deleterious mutations.
  • Conversely, negative testing for a known familial mutation in 45 patients was associated with a downgrade of their risk and reduction of subsequent surveillance and management.

Citation:

Frost AS, Toaff M, Biagi R, Stark E, McHenry A, Kaltman R. Effects of cancer genetic panel testing on at-risk individuals. [Published online ahead of print May 7, 2018]. Obstet Gynecol. doi:10.1097/AOG.0000000000002531.