Heidi Lumish|Hallie Steinfeld|Carrie Koval|Donna Russo|Elana Levinson|Julia Wynn|James Duong|Wendy K. Chung
Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients
Columbia University|Columbia University|NewYork–Presbyterian Hospital|NewYork–Presbyterian Hospital|NewYork–Presbyterian Hospital|NewYork–Presbyterian Hospital|Columbia University|Columbia University|Cancer Genetics (United States)
recent advances next generation sequencing enabled panel gene testing simultaneous testing mutations multiple genes clinical condition extensive widespread genetic testing increased detection genes moderate penetrance without established clinical guidelines variants uncertain significance vus genetic variants unknown either diseasecausing benign study surveyed 232 patients underwent genetic counseling hereditary breast ovarian cancer examine impact panel gene testing psychological outcomes patient understanding utilization genetic information survey used standardized instruments including impact event scale ies multidimensional impact cancer risk assessment micra satisfaction decision instrument swd ambiguity tolerance scale at20 genetics knowledge utilization genetic test results study results suggested unaffected individuals family history breast ovarian cancer received positive results significantly impacted intrusive thoughts avoidance distress however scores also modestly elevated among unaffected patients family history breast ovarian cancer received vus highlighting impact ambiguous results frequent among patients undergoing genetic testing large panels genes potential risk factors increased genetic testingspecific distress study included younger age black african american race hispanic origin lower education level lower genetic knowledge highlight need developing strategies provide effective counseling education communities particularly genetic testing utilizes gene panels commonly return vus detailed pretest education counseling may help patients appreciate probability various types test results results would used clinically allow make informed decisions type genetic testing select