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Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.


ABSTRACT: In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% confidence interval [CI]?=?45.5 to 49.6%) underwent genetic testing, and 12.0% (95% CI?=?9.2 to 14.8%) who tested positive continued the cascade by inviting additional relatives to test. Of tested relatives, 4.9% (95% CI?=?3.8 to 6.1%) had a pathogenic variant in a different gene from the known familial one, and 16.8% (95% CI?=?14.7 to 18.8%) had a variant of uncertain significance. These results suggest that an online, low-cost program is an effective approach to implementing cascade testing, and that up to 5% of the general population may carry a pathogenic variant in 1 of 30 cancer-associated genes.

SUBMITTER: Caswell-Jin JL 

PROVIDER: S-EPMC6335111 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

Caswell-Jin Jennifer L JL   Zimmer Anjali D AD   Stedden Will W   Kingham Kerry E KE   Zhou Alicia Y AY   Kurian Allison W AW  

Journal of the National Cancer Institute 20190101 1


In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% co  ...[more]

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