Janet L. Williams|Alanna Kulchak Rahm|Doris T. Zallen|Heather L. Stuckey|Kara Fultz|Audrey L. Fan|Michele Bonhag|Lynn Feldman|Michael M. Segal|Marc S. Williams
Impact of a Patient?Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication
Virginia Tech|Penn State Milton S. Hershey Medical Center|Philadelphia Department of Public Health|Second Genome (United States)|SimulConsult|SimulConsult
objective study test effectiveness enhanced genomic report patientcentered outcome domains including communication engagement satisfaction study design utilized prospective randomized mixedmethods desctiptive study whole genome sequencing results report genomecompass accessed providers electronic health record patients associated patient portal study set integrated healthcare delivery system central pennsylvania eightyfour parents 46 children undiagnosed intellectual disability autism spectrum disorder andor multiple congenital anomalies participated previous study offering whole genome sequencing affected child invited enroll fiftytwo parents enrolled following traditional genetics results informing visit study coordinator stratified families diagnostic result uninformative result randomized families within group intervention arm receive genomecompass report usual care arm receive summary letter medical geneticist letter inviting enrollment included baseline survey returned constituted enrollment surveys administered 3 months postgenetics visit 6 months usual care arm crossed receive intervention administered additional survey 3 months qualitative interviews conducted following survey completion augment survey data regarding patient centered outcomes interest patient reported outcomes including communication engagement empowerment satisfaction intervention arm genomecompass reports released 14 families n 28 parents 21 75 returned 3 month surveys usual care arm 12 families n 24 parents received usual care summary letters 20 83 returned 3 month surveys crossover genomecompass reports released 20 individuals 15 75 returned 3 month surveys qualitative interviews conducted 5 individuals use genomecompass report reported small group parents improve communication providers nonhealth professionals educators therapists led increased engagement high satisfaction providers others involved childrens care also endorsed reports effectiveness reports addressed negative findings ie uninformative results found useful although number users small study supports customizable template reports may provide useful durable source information support enhance information provided genetics professionals traditional facetoface encountersclinicaltrialsgov record 20130594