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

Noralane M. Lindor, Kimberly A. Schahl, Kiley J. Johnson, Katherine S. Hunt, Kara A. Mensink, Eric D. Wieben, Eric Klee, John L. Black, W Edward Jr. Highsmith, Stephen N. Thibodeau, Matthew J. Ferber, Umut Aypar, Yuan Ji, Rondell P. Graham, Alexander S. Fiksdal, Vivek Sarangi, Kelly E. Ormond, Douglas L. Riegert-Johnson, Tammy M. McAllister, Gianrico FarrugiaJennifer B McCormick

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Article number1127
Pages (from-to)1327-1337
Number of pages11
JournalMayo Clinic Proceedings
Volume90
Issue number10
DOIs
StatePublished - Oct 1 2015

ASJC Scopus subject areas

  • Medicine(all)

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    Lindor, N. M., Schahl, K. A., Johnson, K. J., Hunt, K. S., Mensink, K. A., Wieben, E. D., Klee, E., Black, J. L., Highsmith, W. E. J., Thibodeau, S. N., Ferber, M. J., Aypar, U., Ji, Y., Graham, R. P., Fiksdal, A. S., Sarangi, V., Ormond, K. E., Riegert-Johnson, D. L., McAllister, T. M., ... McCormick, J. B. (2015). Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes. Mayo Clinic Proceedings, 90(10), 1327-1337. [1127]. https://doi.org/10.1016/j.mayocp.2015.05.021