Jennifer L. Caswell?Jin|Anjali D. Zimmer|Will Stedden|Kerry Kingham|Alicia Y. Zhou|Allison W. Kurian
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative
Stanford University|Stanford University|Color (United States)|Color (United States)|Stanford University|Color (United States)|Stanford University
cascade testing genetic testing identified familial pathogenic variant extends diseasefree relatives allow genetically targeted disease prevention evaluated results online initiative carriers 1 30 cancerassociated genes firstdegree relatives could offer lowcost testing atrisk firstdegree relatives first year 1101 applicants invited 2280 firstdegree relatives undergo genetic testing invited relatives 475 95 confidence interval ci 455 496 underwent genetic testing 120 95 ci 92 148 tested positive continued cascade inviting additional relatives test tested relatives 49 95 ci 38 61 pathogenic variant different gene known familial one 168 95 ci 147 188 variant uncertain significance results suggest online lowcost program effective approach implementing cascade testing 5 general population may carry pathogenic variant 1 30 cancerassociated genes