Language
English
Publication Date
5-1-2023
Journal
Genetics in Medicine
DOI
10.1016/j.gim.2023.100818
PMID
36852743
Abstract
Purpose: Cascade testing, the process of testing a proband's at-risk relatives, is integral to realizing the full value of genomic sequencing. However, there is little empirical evidence on the uptake of cascade testing after a positive exome sequencing (ES) result in a population of probands with diverse clinical indications.
Methods: We retrospectively reviewed administrative data from 2 US clinical laboratories that perform ES. For each proband with a positive ES result, we used linked family data to describe the frequency of relatives' cascade testing performed at the same laboratory, variant detection yield of cascade tests, and characteristics of probands and relatives categorized on the basis of cascade testing completion.
Results: Among the 3723 positive ES results across both laboratories, 426 relatives of 282 probands completed cascade testing (uptake = 7.6%). An average of 1.5 relatives (SD = 0.9) were tested per proband. Of the 426 relatives tested, 200 had a variant of interest detected (variant detection yield = 47.0%).
Conclusion: In our real-world data analysis, a small proportion of probands with a positive ES result subsequently had relatives complete cascade testing at the same laboratory. However, approximately half of the tested relatives received a clinically significant result that could have implications for clinical management or reproductive planning. Additional research on ways to increase cascade testing uptake is warranted.
Keywords
Humans, Genetic Testing, Retrospective Studies, Laboratories, Exome Sequencing, Family, Cascade screening. Cascade testing. Clinical laboratory. Exome sequencing. Familial testing
Published Open-Access
yes
Recommended Citation
Stefka, Julie; Streff, Haley; Liu, Pengfei; et al., "Cascade Testing After Exome Sequencing: Retrospective Analysis of Linked Family Data at 2 US Laboratories" (2023). Faculty and Staff Publications. 2217.
https://digitalcommons.library.tmc.edu/baylor_docs/2217
Included in
Biological Phenomena, Cell Phenomena, and Immunity Commons, Biomedical Informatics Commons, Genetics and Genomics Commons, Medical Genetics Commons, Medical Molecular Biology Commons, Medical Specialties Commons