Sabrina A Suckiel, Nicole R Kelly, Jacqueline A Odgis, Katie M Gallagher, Monisha Sebastin, Katherine E Bonini, Priya N Marathe, Kaitlyn Brown, Miranda Di Biase, Michelle A Ramos, Jessica E Rodriguez, Laura Scarimbolo, Beverly J Insel, Kathleen D M Ferar, Randi E Zinberg, George A Diaz, John M Greally, Noura S Abul-Husn, Laurie J Bauman, Bruce D Gelb, Carol R Horowitz, Melissa P Wasserstein, Eimear E Kenny
Digital solutions are needed to support rapid increases in the application of genetic/genomic tests (GTs) in diverse clinical settings and patient populations. We developed GUÍA, a bilingual digital application that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GTs. The trial evaluated GUÍA's impact on understanding the GT results by randomizing families to results disclosure genetic counseling with GUÍA (intervention) or standard of care (SOC)...
December 7, 2023: American Journal of Human Genetics