How genetic testing execution can be improved through lab stewardship

By Becky O’Neal

Provider-ordered genetic testing can supply life-saving information to patients and their families. For example, tests can detect the presence of mutations that leave individuals vulnerable to breast cancer, or spot whether potential parents could pass on rare, harmful conditions.

Yet providers, and healthcare systems, are often not positioned to deploy genetic tests efficiently and effectively. Providers may not have timely access to systems that help them determine whether a test is warranted, or they may not be able to identify which tests are available at a reasonable cost to both patients and healthcare systems.

There are better ways to manage genetic testing. Implementing a lab stewardship program that encompasses the rapidly expanding genetic testing field can provide clarity for providers, improved care for patients, and savings for hospitals.

What is genetic testing?

Thanks to direct-to-consumer genetic tests available through companies like 23andMe and Ancestry, patients are increasingly aware of the availability and power of genetic testing. The testing universe is complex and growing, with more than 77,000 genetic tests available in the U.S. (MedlinePlus, 2021a).

There are multiple types of genetic tests (MedlinePlus, 2021b). Major categories include:

  • Molecular tests, which identify changes in genes
  • Biochemical tests, which analyze the activity level or number of enzymes or proteins produced from genes
  • Gene expression tests, which measure which genes are turned on or off in different cells
  • Chromosomal tests, which examine long lengths of DNA and chromosomes to identify large-scale changes

A healthcare provider will choose a particular test type based on the conditions that are suspected.

Challenges surrounding genetic testing

The top challenges related to genetic testing include inappropriate test selection and lack of formulary indicating a health system’s preferred genetic reference labs.

Incorrect test selection occurs partially because of the sheer quantity of tests. Tests are available for more than 22,000 conditions (National Library of Medicine, 2023), which makes deciding on the right one for each patient very challenging. Some estimates state that 30% of genetic test orders are inappropriate and 5% of genetic test orders are frank medical errors (Dickerson et al., 2017). These errors are costly to the patient and hospital.

In addition, many reference labs offer genetic tests that vary in price and coverage. Some payers do not cover genetic testing, and others restrict reimbursement. Depending on the nature and complexity of a test, its cost can range from under $100 to more than $2,000 (MedlinePlus, 2021c). Taken together, these challenges serve as a call to action for administrators to seek out opportunities to make changes, namely by instituting a lab stewardship program.

Lab stewardship programs can help mitigate these challenges

Incorrect test selection can be easily prevented with a lab stewardship program. First, healthcare systems can ensure providers receive adequate training on ordering tests and are informed about existing problems and the need for change. Next, software programs and algorithms can be adjusted to minimize human error by optimizing test names, identifying appropriate circumstances to use tests, and ensuring system search functions are calibrated to display the most appropriate tests first.

Given the extreme price and reimbursement variation among tests, additional steps can be taken. For example, test orders over a predetermined cap can require a second level of approval, and software programs can be calibrated to flag expensive or unreimbursed tests.

Some error in test selection will always remain, but to drive error down as low as possible, hospitals can contract with a select group of reference labs that have been carefully vetted for quality and accuracy. Using a large number of reference labs creates complexities with ordering, result tracking, and financial reporting. It also prevents contracting for lower rates. By establishing a reference laboratory formulary through the work of a lab stewardship program, healthcare systems can maintain the quality that clinicians and patients depend on.

Hospitals can optimize genetic testing to ensure best care for patients

Numerous health systems have successfully implemented these strategies, reporting that their genetic testing programs are now more beneficial for patients, user-friendly for clinicians, and cost-effective overall. Additionally, if implementing a lab stewardship program seems daunting, there are resources available to manage and execute these improvements. Launching a lab stewardship program is the first step to improving the use and efficacy of genetic testing.

Becky O’Neal, MBA, is the director of lab solutions at HealthTrust. She has over 28 years of experience in laboratory science and healthcare leadership, which includes healthcare systems of all sizes and testing complexities. She has developed and implemented process improvements and growth initiatives while maintaining regulatory compliance. She is an ASCP board-certified medical laboratory scientist. This story first ran on


Dickerson, J. A., Fletcher, A. H., Procop, G., Keren, D. F., Singh, I. R., Garcia, J. J., Carpenter, R. B., Miles, J., Jackson, B., & Astion, M. A. (2017). Transforming laboratory utilization review into laboratory stewardship: Guidelines by the PLUGS National Committee for Laboratory Stewardship. Journal of Applied Laboratory Medicine, 2(2), 259–268.

MedlinePlus. (2021a). What is genetic testing?

MedlinePlus. (2021b). What are the different types of genetic tests?

MedlinePlus. (2021c). What is the cost of genetic testing, and how long does it take to get the results?

National Library of Medicine. (2023). Genetic Testing Registry

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