Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Abstract Objective To understand motivations, educational needs, and concerns of individuals contemplating whole-exome sequencing (WES) and determine what amount of genetic information might be obtained by sequencing a generally healthy cohort so as to more effectively counsel future patients. Patie...

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Published in:Mayo Clinic proceedings 2015-10, Vol.90 (10), p.1327-1337
Main Authors: Lindor, Noralane M., MD, Schahl, Kimberly A., MS, CGC, Johnson, Kiley J., MS, CGC, Hunt, Katherine S., MS, CGC, Mensink, Kara A., MS, CGC, Wieben, Eric D., PhD, Klee, Eric, PhD, Black, John L., MD, Highsmith, W. Edward, PhD, Thibodeau, Stephen N., PhD, Ferber, Matthew J., PhD, Aypar, Umut, PhD, Ji, Yuan, PhD, Graham, Rondell P., MBBS, Fiksdal, Alexander S., MA, Sarangi, Vivek, MS, Ormond, Kelly E., MS, CGC, Riegert-Johnson, Douglas L., MD, McAllister, Tammy M., MA, Farrugia, Gianrico, MD, McCormick, Jennifer B., PhD
Format: Article
Language:English
Subjects:
Adult
Attitude of Health Personnel
Exome
Exome sequencing
Female
Genetic Counseling - methods
Genetic Testing - methods
Genome-Wide Association Study - methods
Healthy Volunteers
Humans
Internal Medicine
Male
Outcome and Process Assessment (Health Care)
Patient Selection
Research Design
Sequence Analysis, DNA - methods
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Summary:Abstract Objective To understand motivations, educational needs, and concerns of individuals contemplating whole-exome sequencing (WES) and determine what amount of genetic information might be obtained by sequencing a generally healthy cohort so as to more effectively counsel future patients. Patients and Methods From 2012 to 2014, 40 medically educated, generally healthy scientists at Mayo Clinic were invited to have WES conducted on a research basis; 26 agreed to be in a drawing from which 10 participants were selected. The study involved pre- and posttest genetic counseling and completion of 4 surveys related to the experience and outcomes. Whole-exome sequencing was conducted on DNA from blood from each person. Results Most variants (76,305 per person; range, 74,505-77,387) were known benign allelic variants, variants in genes of unknown function, or variants of uncertain significance in genes of known function. The results of suspected pathogenic/pathogenic variants in Mendelian disorders and pharmacogenomic variants were disclosed. The mean number of suspected pathogenic/pathogenic variants was 2.2 per person (range, 1-4). Four pharmacogenomic genes were included for reporting; variants were found in 9 of 10 participants. Conclusion This study provides data that may be useful in establishing reality-based patient expectations, outlines specific points to cover during counseling, and increases confidence in the feasibility of providing adequate preparation and counseling for WES in generally healthy individuals.
ISSN:0025-6196
1942-5546
DOI:10.1016/j.mayocp.2015.05.021