Journal of Genetic Counseling

, Volume 22, Issue 4, pp 544–553

A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs

  • Debra S. Brandt
  • Laura Shinkunas
  • Stephen L. Hillis
  • Sandra E. Daack-Hirsch
  • Martha Driessnack
  • Nancy R. Downing
  • Megan F. Liu
  • Lisa L. Shah
  • Janet K. Williams
  • Christian M. Simon
Original Research

DOI: 10.1007/s10897-013-9583-5

Cite this article as:
Brandt, D.S., Shinkunas, L., Hillis, S.L. et al. J Genet Counsel (2013) 22: 544. doi:10.1007/s10897-013-9583-5

Abstract

Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders’ perspectives and be based on a common language.

Keywords

Incidental findingsInstitutional review boardHuman genomeGenetic researchBiomedical ethicsGenetic testing

Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Debra S. Brandt
    • 1
    • 2
  • Laura Shinkunas
    • 3
  • Stephen L. Hillis
    • 4
    • 5
    • 6
  • Sandra E. Daack-Hirsch
    • 2
  • Martha Driessnack
    • 7
  • Nancy R. Downing
    • 2
  • Megan F. Liu
    • 8
  • Lisa L. Shah
    • 2
  • Janet K. Williams
    • 2
  • Christian M. Simon
    • 3
    • 9
  1. 1.The University of IowaInstitute for Clinical and Translational ScienceIowa CityUSA
  2. 2.The University of IowaCollege of NursingIowa CityUSA
  3. 3.The University of Iowa Carver College of MedicineProgram in Bioethics and HumanitiesIowa CityUSA
  4. 4.Department of RadiologyThe University of IowaIowa CityUSA
  5. 5.Department of BiostatisticsThe University of IowaIowa CityUSA
  6. 6.Comprehensive Access and Delivery Research and Evaluation (CADRE) CenterIowa City VA Health Care SystemIowa CityUSA
  7. 7.Oregon Health & Science UniversitySchool of NursingPortlandUSA
  8. 8.Taipei Medical University College of NursingSchool of Geriatric Nursing and Care ManagementTaipei CityTaiwan
  9. 9.Department of Internal MedicineThe University of Iowa Carver College of MedicineIowa CityUSA