title: Illustrative case studies in the return of exome and genome sequencing results.
abstract: Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice.
authors.affiliation: Division of Medical Genetics, University of Washington Medical Center, Box 357720, HSB K216, Seattle, WA 98195 7720, USA.
authors.forename: Laura M
authors.initials: LM
authors.lastname: Amendola
authors.affiliation: Brigham & Women's Hospital, Boston, MA 02115, USA.
authors.forename: Denise
authors.initials: D
authors.lastname: Lautenbach
authors.affiliation: Department of Pediatrics, Texas Children's Cancer Center, Houston, TX 77030, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Scollon
authors.affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Bernhardt
authors.affiliation: Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors.forename: Sawona
authors.initials: S
authors.lastname: Biswas
authors.affiliation: HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
authors.forename: Kelly
authors.initials: K
authors.lastname: East
authors.affiliation: Department of Internal Medicine, University of Michigan, MI 48109, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Everett
authors.affiliation: Department of Medical Genetics, Building 1, 5755 Cottle Road, San Jose, CA 95123, USA.
authors.forename: Marian J
authors.initials: MJ
authors.lastname: Gilmore
authors.affiliation: Department of Medical Genetics, Building 1, 5755 Cottle Road, San Jose, CA 95123, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Himes
authors.affiliation: Department of Internal Medicine, University of Michigan, MI 48109, USA.
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Raymond
authors.affiliation: Division of Pediatrics, Columbia University, 1 E 102nd St, 630 West Street, New York, NY 10029, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Wynn
authors.affiliation: Division of Medical Genetics, University of Washington Medical Center, Box 357720, HSB K216, Seattle, WA 98195 7720, USA.
authors.forename: Ragan
authors.initials: R
authors.lastname: Hart
authors.affiliation: Division of Medical Genetics, University of Washington Medical Center, Box 357720, HSB K216, Seattle, WA 98195 7720, USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
keywords: case studies; clinical genomics; exome sequencing counseling; genetic; genome sequencing; genomic medicine; incidental ersonalized findings; medicine; return of results