Genetic testing costs and compliance with clinical best practices

Abstract

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.

Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans

“…Genetic counselors are trained to support the appropriate use of genetic testing (‘Practice‐Based Competencies’, 2019). Several studies have demonstrated the financial benefit of having genetic counselors review genetic testing orders for appropriateness (Miller et al., 2014; Montanez et al., 2020; Riley et al., 2015). With a majority of genetic testing being ordered by providers outside of genetics, the integration of genetic counselors into non‐genetics clinics is likely to expand.…”

“…Given the increasing utilization of genetic testing across many conditions outside of rare genetic syndromes, the vast majority of patients are encountering genetic testing outside of a visit with a medical geneticist. There is also a growing shortage of genetics providers in health care, which may contribute to other specialists taking on conversations regarding genetic testing with their patients (Maiese et al, 2019) (Miller et al, 2014;Montanez et al, 2020;Riley et al, 2015). With a majority of genetic testing being ordered by providers outside of genetics, the integration of genetic counselors into non-genetics clinics is likely to expand.…”

Toward a More Just System of Care in Molecular Pathology

“…Insurance preauthorization is commonly required by payers for genetic tests to help eliminate excessive spending and misordering or outright fraud. Preauthorization enables insurance companies to decide how necessary a medical treatment is so they can deny the procedure/test/care before the service is provided, by reviewing the paperwork from the health care facility 104,105 . Industry partners on the coasts and well‐funded academic centers also have support staff to maximize payer reimbursement by means of the onerous preauthorization approval process, whereas small community health care facilities do not have sufficient staff or resources 106–108 .…”

ShareDNA: a smartphone app to facilitate family communication of genetic results

“…Author details 1 Department of Biomedical Informatics and Medical Education, School of Medicine, University of Washington, Seattle, WA, USA. 2 Institute of Translational Health Sciences, University of Washington, Seattle, WA, USA. 3 Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.…”

“…Genetic testing is an essential tool to assist patients and clinicians to better understand the risk of hereditary disease. The cost of genetic testing has decreased and the number of genes routinely evaluated has increased in recent years, due to massively parallel sequencing methods and new discoveries [1,2]. Patients now have increased access to genetic information that can be important for their and their family's health.…”