title: Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports.
abstract: There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease. Of 98 intervention arm participants (mean age = 57.8; 39% female) randomized for in-person genomic counseling, 76 (78%) were seen. In contrast, control arm participants (n = 101; mean age = 58.5; 54% female) were initially not offered genomic counseling as part of the study protocol but were able to access in-person genomic counseling, if they requested it, 3-months post viewing of at least one test report and post-completion of the study-specific follow-up survey. A total of 64 intervention arm and 59 control arm participants completed follow-up survey measures. We found that participants receiving in-person genomic counseling had enhanced objective understanding of the genetic variant risk contribution for multiple complex diseases. Genomic counseling was associated with lowered participant causal beliefs in genetic influence across all eight diseases, compared to control participants. Our findings also illustrate that for the majority of diseases under study, intervention arm participants believed they knew their genetic risk status better than control arm subjects. Disease risk was modified for the majority during genomic counseling, due to the assessment of more comprehensive family history. In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective understanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient-centered health outcomes.
authors.affiliation: Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA. Kevin.Sweet@osumc.edu.|Division of Human Genetics, Ohio State University, 2001 Polaris Parkway, Columbus, OH, 43212, USA. Kevin.Sweet@osumc.edu.
authors.forename: Kevin
authors.identifier: http://orcid.org/0000-0002-9131-347X
authors.initials: K
authors.lastname: Sweet
authors.affiliation: Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA.|Dorothy M. Davis Heart and Lung Research Institute, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA.
authors.forename: Amy C
authors.initials: AC
authors.lastname: Sturm
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ, 08103, USA.
authors.forename: Tara
authors.initials: T
authors.lastname: Schmidlen
authors.affiliation: Department of Biomedical Informatics, Center for Biostatistics, Columbus, OH, 43221, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: McElroy
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ, 08103, USA.|Temple University, SERC Building, 1925 N. 12th St, Philadelphia, PA, 19122-1801, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Scheinfeldt
authors.affiliation: Geisinger Health System, Genomic Medicine Institute, Precision Health Center, 190 Welles Street, Suite 128, Forty Fort, PA, 18704, USA.
authors.forename: Kandamurugu
authors.initials: K
authors.lastname: Manickam
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ, 08103, USA.|Genome Medical, Monterey, CA, 93940, USA.
authors.forename: Erynn S
authors.initials: ES
authors.lastname: Gordon
authors.affiliation: School of Communication, Ohio State University, Columbus, OH, 43214, USA.
authors.forename: Shelly
authors.initials: S
authors.lastname: Hovick
authors.affiliation: Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA.
authors.forename: J
authors.initials: J
authors.lastname: Scott Roberts
authors.affiliation: Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA.
authors.forename: Amanda Ewart
authors.initials: AE
authors.lastname: Toland
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ, 08103, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Christman
mesh_terms: D000328:Adult; D002908:Chronic Disease / Q000517:prevention & control*; D057286:Electronic Health Records; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D020022:Genetic Predisposition to Disease / Q000517:prevention & control*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010817:Physician-Patient Relations; D012307:Risk Factors; D011795:Surveys and Questionnaires
keywords: Causal beliefs; Complex disease; Counseling; Genetic; Genomic; Risk perception