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Per Med. 2015;12(3):283-295.

Illustrative case studies in the return of exome and genome sequencing results.

Author information

1
Division of Medical Genetics, University of Washington Medical Center, Box 357720, HSB K216, Seattle, WA 98195 7720, USA.
2
Brigham & Women's Hospital, Boston, MA 02115, USA.
3
Department of Pediatrics, Texas Children's Cancer Center, Houston, TX 77030, USA.
4
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
5
Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
6
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
7
Department of Internal Medicine, University of Michigan, MI 48109, USA.
8
Department of Medical Genetics, Building 1, 5755 Cottle Road, San Jose, CA 95123, USA.
9
Division of Pediatrics, Columbia University, 1 E 102nd St, 630 West Street, New York, NY 10029, USA.

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.

KEYWORDS:

case studies; clinical genomics; exome sequencing counseling; genetic; genome sequencing; genomic medicine; incidental ersonalized findings; medicine; return of results

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