title: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ. Electronic address: nlindor@mayo.edu.
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Schahl
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Kiley J
authors.initials: KJ
authors.lastname: Johnson
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ; Division of Hematology and Medical Oncology, Mayo Clinic, Scottsdale, AZ.
authors.forename: Katherine S
authors.initials: KS
authors.lastname: Hunt
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Kara A
authors.initials: KA
authors.lastname: Mensink
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Wieben
authors.affiliation: Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN.
authors.forename: Eric
authors.initials: E
authors.lastname: Klee
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: John L
authors.initials: JL
authors.lastname: Black
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Stephen N
authors.initials: SN
authors.lastname: Thibodeau
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Ferber
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Umut
authors.initials: U
authors.lastname: Aypar
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ji
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Rondell P
authors.initials: RP
authors.lastname: Graham
authors.affiliation: Department of Psychology, Brandeis University, Waltham, MA.
authors.forename: Alexander S
authors.initials: AS
authors.lastname: Fiksdal
authors.affiliation: Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN.
authors.forename: Vivek
authors.initials: V
authors.lastname: Sarangi
authors.affiliation: Department of Genetics and Stanford Center for Biomedical Ethics, Stanford School of Medicine, Stanford, CA.
authors.forename: Kelly E
authors.initials: KE
authors.lastname: Ormond
authors.affiliation: Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.
authors.forename: Douglas L
authors.initials: DL
authors.lastname: Riegert-Johnson
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Tammy M
authors.initials: TM
authors.lastname: McAllister
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.
authors.forename: Gianrico
authors.initials: G
authors.lastname: Farrugia
authors.affiliation: Biomedical Ethics Program, Mayo Clinic, Rochester, MN; Division of General Internal Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Jennifer B
authors.initials: JB
authors.lastname: McCormick
mesh_terms: D000328:Adult; D001291:Attitude of Health Personnel; D059472:Exome; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D055106:Genome-Wide Association Study / Q000379:methods*; D064368:Healthy Volunteers; D006801:Humans; D008297:Male; D010043:Outcome and Process Assessment, Health Care; D018579:Patient Selection; D012107:Research Design; D017422:Sequence Analysis, DNA / Q000379:methods