Managing Incidental Findings in the Genomic Era

Summary

Principal Investigator: JANET K contact WILLIAMS
Abstract: DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (01) Behavior, Behavioral Change, and Prevention and specific Challenge Topic, 01-GM-104: Mechanisms of Behavior Change Research. Disclosing the prospect or discovery of genomic IFs to clinical patients or prospective research subjects is an area fraught with ethical, legal, social, and practical challenges. These challenges are being magnified with the advent of Genome Wide Association Studies (GWAS) and Chromosomal Microarray Analysis (CMA). The potential for identifying IFs and how this potential should be addressed for GWAS, CMA, and other genomic research and clinical applications is a novel prospect with which researchers, clinicians, research subjects, patients, and policy makers have limited experience. The Purpose of this research is to examine how the prospect of IFs is addressed in the context of GWAS and CMA, and to identify key areas for future research and consideration in the longer-term effort to promote ethically, legally, and socially sound policies and best practices for the management of genomic IFs. The Specific Aims of the research project are to: 1) examine how the prospect of genomic IFs is currently articulated in patient education and informed consent materials in research and related clinical application;2) determine how the issues surrounding genomic IFs are defined and how they would preferably be handled from the perspectives of: a) health professionals, including clinicians working with genomic technologies and investigators conducting genomic research;b) IRBs, including IRB Chairs potentially involved in the review of genomic protocols or protocols making use of genomic tools such as CMA;and c) diverse members of the public, including representatives of different ethnic, cultural and religious groups, and parents of children who have had CMA testing;3) synthesize data from Aims 1 and 2 into a model taxonomy of genomic IF issues and stakeholder preferences and perceptions that has the potential to support decisions regarding disclosure and discovery of IFs in genomic testing and research;and, 4) disseminate the taxonomy to stakeholder groups for their assessment of its utility in weighing factors affecting decisions regarding disclosure of IFs in genomic testing and their identification of priorities relevant to issues surrounding IFs in genomic research and clinical practice. Data will be obtained and analyzed from surveys and interview with researchers using GWAS, clinicians using CMA, and a cross section of public stakeholders. Baseline data here will be highly valuable in terms of identifying possible trends and gaps in upfront disclosure of genomic IFs, and will serve as a baseline for recommendations concerning future research and practice guidelines in this area. This research study will be among the first to explore the prospect and discovery of IFs in GWAS and CMA, to generate a taxonomy with the potential to support decision making related to the prospect and discovery of genomic IFs, and to identify opportunities for future research and dialogue in this important area of ethical concern. Laboratory tests designed to determine if there is a genetic cause for a disease or health problem can sometimes have other abnormal findings. Currently, there are not guidelines for how to inform people of this possibility or to determine when and how people would want to learn this information. The preferences of people who have these tests and their physicians who order them for clinical diagnosis or research purposes are needed to establish policies on informing people of the possibility and management of these unanticipated findings.
Funding Period: ----------------2009 - ---------------2011-
more information: NIH RePORT

Top Publications

  1. ncbi Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance
    Christian Simon
    Department of Internal Medicine, University of Iowa, Roy J and Lucille A Carver School of Medicine, 500 Newton Drive, 1 103 MEB, Iowa City, IA 52242 1190, USA
    J Med Ethics 38:417-22. 2012
  2. pmc Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting
    Nancy R Downing
    College of Nursing, The University of Iowa, Iowa City, IA, USA
    Patient Educ Couns 90:133-8. 2013
  3. pmc 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
    The University of Iowa, Institute for Clinical and Translational Science, Iowa City, IA, USA
    J Genet Couns 22:544-53. 2013
  4. ncbi 'Information is information': a public perspective on incidental findings in clinical and research genome-based testing
    S Daack-Hirsch
    College of Nursing, The University of Iowa, Iowa City, IA, USA
    Clin Genet 84:11-8. 2013
  5. pmc Informed consent and genomic incidental findings: IRB chair perspectives
    Christian M Simon
    Program in Bioethics and Humanities, University of Iowa Carver College of Medicine, 500 Newton Road, Iowa City, IA 52242 1190, USA
    J Empir Res Hum Res Ethics 6:53-67. 2011
  6. pmc Researcher and institutional review board chair perspectives on incidental findings in genomic research
    Janet K Williams
    College of Nursing, The University of Iowa, Iowa City, Iowa 52242, USA
    Genet Test Mol Biomarkers 16:508-13. 2012

Scientific Experts

  • J K Williams
  • Christian Simon
  • Nancy R Downing
  • Martha Driessnack
  • S Daack-Hirsch
  • Debra S Brandt
  • Sandra Daack-Hirsch
  • Stephen L Hillis
  • Lisa L Shah
  • L L Shah
  • V A Johnson
  • Sandra E Daack-Hirsch
  • Laura Shinkunas
  • Megan F Liu
  • M Driessnack
  • A Hanish

Detail Information

Publications7

  1. ncbi Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance
    Christian Simon
    Department of Internal Medicine, University of Iowa, Roy J and Lucille A Carver School of Medicine, 500 Newton Drive, 1 103 MEB, Iowa City, IA 52242 1190, USA
    J Med Ethics 38:417-22. 2012
    ..In the USA, no national policy exists to direct this use of informed consent, and it is unclear how local institutional review boards (IRBs) may want researchers to respond...
  2. pmc Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting
    Nancy R Downing
    College of Nursing, The University of Iowa, Iowa City, IA, USA
    Patient Educ Couns 90:133-8. 2013
    ..The aim of this study was to examine genetics specialists' perspectives regarding current and preferred disclosure of clinical genomic IFs...
  3. pmc 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
    The University of Iowa, Institute for Clinical and Translational Science, Iowa City, IA, USA
    J Genet Couns 22:544-53. 2013
    ..Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders' perspectives and be based on a common language. ..
  4. ncbi 'Information is information': a public perspective on incidental findings in clinical and research genome-based testing
    S Daack-Hirsch
    College of Nursing, The University of Iowa, Iowa City, IA, USA
    Clin Genet 84:11-8. 2013
    ..Broad public input is needed in order to understand and incorporate the public's perspective on management of incidental findings as disclosure guidelines, and policies are developed in clinical and research settings...
  5. pmc Informed consent and genomic incidental findings: IRB chair perspectives
    Christian M Simon
    Program in Bioethics and Humanities, University of Iowa Carver College of Medicine, 500 Newton Road, Iowa City, IA 52242 1190, USA
    J Empir Res Hum Res Ethics 6:53-67. 2011
    ..IRB Chair and other stakeholder perspectives can help advance informed consent efforts to accommodate GIF prospects...
  6. pmc Researcher and institutional review board chair perspectives on incidental findings in genomic research
    Janet K Williams
    College of Nursing, The University of Iowa, Iowa City, Iowa 52242, USA
    Genet Test Mol Biomarkers 16:508-13. 2012
    ..Genomic research can produce findings unrelated to a study's aims. The purpose of this study was to examine researcher and Institutional Review Board (IRB) chair perspectives on genomic incidental findings (GIFs)...