title: Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.
abstract: OBJECTIVE
  Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.
  
  
  METHODS
  The Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision making.
  
  
  RESULTS
  Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The return of results oversight committee identified two sex chromosomal anomalies, Klinefelter syndrome and Turner syndrome, as well as homozygosity for factor V Leiden, as findings that could warrant reporting. Views about returning findings of HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of electronic medical records suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site).
  
  
  CONCLUSIONS
  The eMERGE experience reveals the complexity of return of results decision making and provides a potential deliberative model for adoption in other collaborative contexts.
authors.affiliation: University of Washington, Seattle, Washington, USA. smfllrtn@uw.edu
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Fullerton
authors.forename: Wendy A
authors.initials: WA
authors.lastname: Wolf
authors.forename: Kyle B
authors.initials: KB
authors.lastname: Brothers
authors.forename: Ellen Wright
authors.initials: EW
authors.lastname: Clayton
authors.forename: Dana C
authors.initials: DC
authors.lastname: Crawford
authors.forename: Joshua C
authors.initials: JC
authors.lastname: Denny
authors.forename: Philip
authors.initials: P
authors.lastname: Greenland
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Koenig
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Leppig
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.forename: Catherine A
authors.initials: CA
authors.lastname: McCarty
authors.forename: Amy L
authors.initials: AL
authors.lastname: McGuire
authors.forename: Eugenia R
authors.initials: ER
authors.lastname: McPeek Hinz
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Mirel
authors.forename: Erin M
authors.initials: EM
authors.lastname: Ramos
authors.forename: Marylyn D
authors.initials: MD
authors.lastname: Ritchie
authors.forename: Maureen E
authors.initials: ME
authors.lastname: Smith
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Waudby
authors.forename: Wylie
authors.initials: W
authors.lastname: Burke
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
mesh_terms: D035843:Biomedical Research / Q000941:ethics / Q000706:statistics & numerical data*; D005165:Factor V / Q000235:genetics; D005826:Genetics, Medical / Q000941:ethics / Q000706:statistics & numerical data; D055106:Genome-Wide Association Study / Q000941:ethics / Q000706:statistics & numerical data*; D006720:Homozygote; D006801:Humans; D033162:Incidental Findings; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D008490:Medical Informatics / Q000941:ethics / Q000706:statistics & numerical data; D035842:Research Subjects; D012729:Sex Chromosome Aberrations; D014342:Truth Disclosure / Q000941:ethics; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V