Conference Coverage

More than one-third of genetic tests misordered, study finds


 

AT ACOG 2017

– A review of genetic tests ordered during a 3-month period found that more than one-third were misordered, leading to more than $20,000 in unnecessary health care costs, results from a single-center quality improvement project showed.

“We know there is an ever-expanding number of genetic tests available for clinicians to order, and there is more direct marketing to the patient,” Kathleen Ruzzo, MD, the lead study author, said in an interview prior to the annual clinical and scientific meeting of the American College of Obstetricians and Gynecologists. “It can be difficult to stay on top of that as we have so many different clinical responsibilities.”

Dr. Monica A. Lutgendorf (left) and Dr. Kathleen Ruzzo Courtesy Naval Medical Center San Diego

Dr. Monica A. Lutgendorf (left) and Dr. Kathleen Ruzzo

Over a period of 3 months, Dr. Ruzzo, an ob.gyn. resident at Naval Medical Center San Diego, and her associates identified 114 charts associated with genetic test billing codes for common tests sent through LabCorp: cystic fibrosis, BRCA, factor V Leiden, prothrombin, alpha-thalassemia, hemochromatosis, and cell-free DNA. They retrospectively reviewed the charts to assess for compliance with published clinical practice guidelines identified on GeneReviews and classified the tests as appropriate, misordered/not indicated, misordered/false reassurance, or misordered/inadequate. Researchers also performed a cost analysis.

Of genetic tests ordered for the 114 patients, 44 (39%) were deemed to be misordered based on published clinical practice guidelines. Of the rest, 24 tests were misordered/not indicated, 8 tests were misordered/false reassurance, and 12 tests were misordered/inadequate.

The costs of ordered genetic testing totaled approximately $75,000, while the cost of recommended testing following the chart review was approximately $54,000, a difference of more than $20,000.

When Dr. Ruzzo shared results of the study with her colleagues at Naval Medical Center San Diego, “I think it opened a lot of people’s eyes … to be more meticulous about [genetic] testing and to ask for help when you need help,” she said. “Having trained individuals, reviewing genetic tests could save money in the health care system more broadly. We could also approve the appropriate testing for the patient.”

She acknowledged certain limitations of the study, including the fact that it “reviewed a very narrow scope of [genetic] tests for a short amount of time, so we think we underestimated the appropriate health care expenditures. Additionally, we didn’t focus on the clinical ramifications of the misordering for patients.”

Study coauthor Monica A. Lutgendorf, MD, a maternal-fetal medicine physician at the medical center, characterized the study findings as “a call to action in general for ob.gyns. to get additional training and resources to handle the ever-expanding number of [genetic] tests,” she said. “I don’t think that this is unique to any specific institution. I think this is part of the new environment of practice that we’re in.”

Physicians can learn more about genetic testing from ACOG and from the Perinatal Quality Foundation, Dr. Lutgendorf said. The study won first prize among oral abstracts presented at the ACOG meeting. The researchers reported having no financial disclosures.

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