Cases and evidence for panel testing in cancer genetics: Is site‐specific testing dead?. Issue 3 (1st February 2019)

• Record Type: Journal Article
• Authors: Thomas, Martha H.; Higgs, Lydia K.; Modesitt, Susan C.; Schroen, Anneke T.; Ring, Kari L.; Dillon, Patrick M.
• Is Part Of: Journal of genetic counseling. Volume 28:Issue 3(2019)
• Page Start: 700
• Page End: 707
• Publication Date: 2019-02-01
• Subjects: cancer genetics -- panel testing -- site‐specific testing; Genetic counseling -- Periodicals; 616.042
• DOI: 10.1002/jgc4.1044
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: Historically in cancer genetic counseling, when a pathogenic variant is found which explains the cancers in the family, at risk family members are offered site‐specific testing to identify whether or not they have the previously identified pathogenic variant. Factors such as turnaround times, cost, and insurance coverage all made site‐specific testing the most appropriate testing option; however, as turnaround times and costs have substantially dropped and the recognition of double heterozygous families and families with nontraditional presentations has increased, the utility of site‐specific testing should be questioned. We present four cases where ordering site‐specific testing would have missed a clinically relevant pathogenic variant which raises the question of whether or not site‐specific testing should be regularly used in cancer genetic testing.