The Importance of Genetics Experts in Optimizing Genetic Test Orders
There has been much press coverage about the recent explosion of the genetic testing market. Between 2014–17, there were approximately 75,000 genetic tests on the market, with about ten new tests entering the market daily.¹ The genetic testing market is set to exceed $22 billion USD by 2024, growing at a CAGR of 11.6%.² This rapid growth in the number of genetic tests has led to a knowledge gap between the developers of genetic tests, and the clinicians who order them. Studies show that non-genetics providers have insufficient training and experience with genetic testing. One study identified that genetic tests were ordered incorrectly about 30% of the time.³
Metis Genetics, along with PLUGS (Patient-centered Laboratory Utilization Guidance Services) and Texas Children’s Hospital, undertook a study to demonstrate the potential impact of genetics specialists on identifying genetic test order errors, improving health insurance reimbursement for genetic testing, and providing cost savings. This study was conducted to help uncover the benefits of a laboratory stewardship or utilization management program led by genetic counselors, and was recently published by the American Journal of Clinical Pathology.⁴
The authors studied 44 cases in which whole exome sequencing (WES) was performed but not reimbursed by health insurance. These cases were reviewed by a genetic counselor through both simulated prospective and retrospective reviews. Non-genetics providers ordered 52% of these cases. If review by a genetic counselor had occurred in real time, modifications or cancellations would have been recommended in 82% of the cases. This finding is important, because financial liability for both institutions and patients can be significant when reimbursement for testing is poor or nonexistent, as in these 44 cases.
The simulated prospective review assessed the appropriateness of the WES order and the medical necessity in the context of the clinical notes provided, and the WES coverage guidelines for that particular payer, if available. A determination was then made as to whether the test order guidance would have been approve, modify, or cancel, as if a prospective review had been completed by the genetic counselor before testing. Again, 82% of cases fell into the modify or cancel categories. Within the cancel category, 70% of the cases needed “clinical clarification”. This means that if the test review were performed in real time, it would have required the reviewing genetic counselor to consult with the ordering provider to determine whether an alternative test could be considered based on the clinical evaluation, or whether the family would consider paying for the ordered WES test without insurance coverage.
In this simulated prospective review, the total estimated cost savings to the institution would have been approximately $130,506. This was based on only 44 cases, and of just one test type (WES). In addition to cost-savings, prospective test review allows for the opportunity to improve patient safety by identifying insufficient or incorrect orders before the test occurs, reducing delays and potential patient harm.
The authors reason that expanding genetic counselor review beyond WES orders to include additional genetic test types will translate to further order error detection, and opportunities to increase reimbursement, which will ultimately improve patient safety and reduce overall costs for patients and health systems.⁴
References:
1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987210/
2. https://www.gminsights.com/industry-analysis/genetic-testing-market
3. Miller CE, Krautscheid P, Baldwin EE, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Med Genet A. 2014;164A:1094-1101.
4. M Edye Conway, Cassidi Dailey Kalejta, Darci L Sternen, Ila R Singh, The Importance of Genetics Experts in Optimizing Genetic Test Orders Through Prospective and Retrospective Reviews, American Journal of Clinical Pathology, aqz188.