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Genetic Testing Costs and Compliance With Clinical Best Practices [19OP]

Ruzzo Kathleen MD; Sale, Taylor J. MS, LCGC; Willis, Mary J. MD; Harding, Aaron J. MS; Lutgendorf, Monica A. MD
Obstetrics & Gynecology: May 2017
doi: 10.1097/01.AOG.0000513948.68727.0f
Monday, May 8, 2017: PDF Only


The rapid expansion of genetic testing has resulted in increased costs and utilization. Previous studies have shown a financial benefit to review of genetic testing by genetic counselors. We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution.


This is an approved quality improvement project. We identified the charts associated with the genetic test billing codes for common genetic tests sent through LabCorp (cystic fibrosis, BRCA, factor V Leiden, prothrombin, alpha-thalassemia, hemochromatosis, and cell free DNA). We reviewed charts retrospectively to assess the compliance with published clinical practice guidelines identified on Gene Reviews. Tests were classified as: appropriate, mis-ordered/not indicated, mis-ordered/false reassurance, and mis-ordered/inadequate. Cost analysis was performed for recommended test changes.


We reviewed 114 charts over the 3 month period. Forty four (38.6%) of the tests were mis-ordered based on published clinical practice guidelines: 24 (21%) were mis-ordered/not indicated, 8 (7%) were mis-ordered/false reassurance, and 12 (10.5%) were mis-ordered/inadequate. Costs of ordered testing ($75,177.41) were compared to recommended testing after review ($54,264.83), with a total cost savings of $20,912.58.


In clinical practice, over 1/3 of genetic tests reviewed were mis-ordered As these tests are a small fraction of all genetic tests at our institution, future studies should broaden the scope of testing evaluated to understand the magnitude of this problem and potential cost savings. Genetic counselor review and/or involvement in genetic test ordering can decrease inappropriate healthcare expenditures and improve patient care.

Financial Disclosure: The authors did not report any potential conflicts of interest.

© 2017 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.