With more than 1,000 diseases for which genetic testing is available, and with the completion of the Human Genome Project, more patients are requesting genetic testing and more clinicians are utilizing such testing; it has become mainstream.1 This increased utilization has resulted in increased cost as well, say Ruzzo and colleagues, who presented research on genetic testing costs and compliance with clinical best practices at the 2017 Annual Clinical and Scientific Meeting of the American College of Obstetricians and Gynecologists (ACOG).2 But, according to previous research say Ruzzo and colleagues, these costs can be quelled by involving genetic counselors in the test-ordering process.
Just how much cost savings can be achieved? In their quality improvement project, the investigators found that 38.6% of 44 genetic tests reviewed were inappropriately ordered—either they were not indicated (21%), misordered for false reassurance (7%), or inadequately ordered (10.5%). If the tests were ordered as appropriately recommended, a cost savings of $20,912.58 would have been realized, according to the researchers.
Ruzzo and colleagues reviewed 114 charts over a 3-month period for adherence with published clinical practice guidelines. All of the charts were associated with a genetic test billing code for common tests ordered through LabCorp (for cystic fibrosis, BRCA mutation, factor V Leiden, prothrombin, alpha-thalassemia, hemochromatosis, and cell-free DNA).
The researchers concluded that genetic counselor review or involvement in genetic test ordering can decrease inappropriate spending and improve patient care. They pointed out that the 114 charts reviewed represent a fraction of genetic tests ordered at their institution, and further study should broaden the research scope to determine the full extent of the problem.
Ruzzo and colleagues were awarded first prize for their research as presented at ACOG.
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