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Assessing the Utility of Genetic Tests

Sun, Fang MD, PhD; Schoelles, Karen M. MD, SM, FACP; Coates, Vivian H. MBA

The Journal of Ambulatory Care Management: July/September 2013 - Volume 36 - Issue 3 - p 222–232
doi: 10.1097/JAC.0b013e318295d7e3
Original Articles

Genetic testing is a rapidly expanding area with many clinical applications. While the introduction of new genetic tests creates tremendous potential for improving patient care, it is essential to adequately evaluate these tests to ensure their accuracy and utility for clinical practice. This article describes a general approach to the evaluation of genetic tests and discusses common challenges that evaluators face. This article's goal was to provide a starting point for those who are concerned with the safety and utility of genetic tests to develop an overall strategy to perform the assessment.

ECRI Institute Health Technology Assessment Group and ECRI Institute Penn Medicine Evidence-Based Practice Center (Drs Sun and Schoelles), ECRI Institute Evidence-Based Practice Center (Dr Schoelles), and Information Services and Health Technology Assessment (Ms Coates), ECRI Institute, Plymouth Meeting, Pennsylvania.

Correspondence: Fang Sun, MD, PhD, ECRI Institute Health Technology Assessment Group, ECRI Institute Headquarters, 5200 Butler Pike, Plymouth Meeting, PA 19462 (

This article is primarily based on research conducted by the ECRI Institute Evidence-Based Practice Center under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, Maryland (contract no. HHSA 290-2007-10063-I). 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 US Department of Health and Human Services. The authors acknowledge the efforts of Eileen Erinoff, MSLIS, Helen Dunn, Janice Kaczmarek, MS, Gina Giradi, MS, and Lydia Dharia for literature retrieval, program management, and administrative support. Special thanks go to Gurvaneet Randhawa, MD, MPH, EPC Program Task Order Officer, AHRQ, for the guidance he provided for the research project.

The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.

© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins