ADDRESSING CHALLENGES IN GENETIC TEST EVALUATION: EVALUATION FRAMEWORKS AND ASSESSMENT OF ANALYTIC VALIDITY

The findings and conclusions in this document are those of the author(s), who are responsible for its content, and do not necessarily represent the views of AHRQ. No statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services. The information in this report is intended to help clinicians, employers, policymakers, and others make informed decisions about the provision of health care services. This report is intended as a reference and not as a substitute for clinical judgment.

This report may be used, in whole or in part, as the basis for the development of clinical practice guidelines and other quality enhancement tools, or as a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied. This document is in the public domain and may be used and reprinted without permission except those copyrighted materials noted for which further reproduction is prohibited without the specific permission of copyright holders.

None of the investigators has any affiliations or financial involvement that conflicts with the material presented in this report. In 1990–1992 while an undergraduate student at Massachusetts Institute of Technology (MIT), Dr. Wendy Bruening worked as a member of the team that discovered the Wilms’ tumor suppressor gene (WT1). While she does receive royalties from MIT related to the patent the university filed for the gene sequence, she has no control over uses of the gene sequence and no conflict with the material in this report. Preface

The Agency for Healthcare Research and Quality (AHRQ), through its Evidence-based Practice Centers (EPCs), sponsors the development of evidence reports and technology assessments to assist public-and private-sector organizations in their efforts to improve the quality of health care in the United States.

The reports and assessments provide organizations with comprehensive, science-based information on common, costly medical conditions and new health care technologies and strategies. The EPCs systematically review the relevant scientific literature on topics assigned to them by AHRQ and conduct additional analyses when appropriate prior to developing their reports and assessments. To improve the scientific rigor of these evidence reports, AHRQ supports empiric research by the EPCs to help understand or improve complex methodologic issues in systematic reviews.