We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution. A cost analysis was performed comparing the costs of ordered tests to the cost of the recommended testing. This was an approved quality improvement project at a tertiary teaching hospital in California. We identified charts associated with the genetic testing billing codes for common genetic tests through our contracted laboratory (cystic fibrosis genotyping, Breast cancer susceptibility gene (BRCA 1&2), Methylenetetrahydrofolate reductase (MTHFR), factor V Leiden (FVL), prothrombin gene pathogenic variant, alpha‐thalassemia, hemochromatosis, and cell‐free fetal DNA). Charts were reviewed retrospectively by a licensed, certified genetic counselor to assess the compliance with published clinical practice guidelines identified on GeneReviews and the American College of Obstetricians and Gynecologists (ACOG). Tests were classified as: appropriate, misordered/not indicated, misordered/false reassurance, and misordered/inadequate. We performed a cost analysis for the recommended test changes. We reviewed 114 charts over a three‐month period. Forty‐four (38.6%) of the tests were misordered based on published clinical practice guidelines: 24 (21%) were misordered/not indicated, 8 (7%) were misordered/false reassurance, and 12 (10.5%) were misordered/inadequate. Costs of ordered testing ($75,177) were compared to recommended testing after review ($54,265), with a total cost savings of $20,912. In clinical practice, over one‐third of genetic tests reviewed were misordered. 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 involvement in genetic test ordering can decrease inappropriate healthcare expenditures and improve patient care.

中文翻译：

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基因检测费用和临床最佳实践的符合性。

我们试图确定基因测试的成本以及在机构中是否符合已发布的指南和临床最佳实践。进行了成本分析，将订购测试的成本与推荐测试的成本进行了比较。这是加利福尼亚一家三级教学医院批准的质量改进项目。我们通过我们的合同实验室（囊性纤维化基因分型，乳腺癌易感基因（BRCA 1＆2），亚甲基四氢叶酸还原酶（MTHFR），因子V莱顿（FVL）确定了与常规基因检测的基因检测计费代码相关的图表），凝血酶原基因致病变体，α地中海贫血，血色病和无细胞胎儿DNA）。由一名执照的，经过认证的遗传咨询师对图表进行回顾性审查，以评估是否符合在GeneReviews和美国妇产科学院（ACOG）上确定的已发布临床实践指南。测试的分类为：适当，错位/未指示，错位/错误的保证和错位/不足。我们对建议的测试更改进行了成本分析。我们在三个月的时间内查看了114张图表。根据已发布的临床实践指南，四十四（38.6％）个测试的检查顺序有误：24个（21％）的检查顺序不正确/未标明，8个（7％）的检查顺序不正确/错误的保证，12个（10.5％）的检查顺序不正确/不足。有序测试的费用（75美元，177）与审核后推荐的测试（54,265美元）进行了比较，总共节省了20,912美元。在临床实践中，超过三分之一的基因检测被误导了。由于这些检测只是我们机构所有基因检测的一小部分，因此未来的研究应扩大检测范围，以了解该问题的严重性和潜在的成本节省。遗传咨询师审查和参与遗传测试订购可以减少不适当的医疗保健支出并改善患者护理。未来的研究应扩大评估的测试范围，以了解该问题的严重性和潜在的成本节省。遗传咨询师审查和参与基因测试订购可以减少不适当的医疗保健支出并改善患者护理。未来的研究应扩大评估的测试范围，以了解该问题的严重性和潜在的成本节省。遗传咨询师审查和参与基因测试订购可以减少不适当的医疗保健支出并改善患者护理。