Improving genetic testing through lab stewardship

Provider-ordered genetic testing can supply lifesaving information to patients and their families. It can detect the presence of mutations that leave individuals vulnerable to breast cancer, for example, or spot if potential parents could pass on rare, harmful conditions to their children. Yet providers and healthcare systems are often not positioned to deploy genetic tests efficiently and effectively.

Becky O’Neal

“Providers may not have timely access to systems that help them determine whether a test is warranted or know which tests are available at a reasonable cost to both patients and healthcare systems,” says Becky O’Neal, Director of Lab Solutions at HealthTrust. “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 does genetic testing do?

Thanks to direct-to-consumer genetic tests available through companies such as 23andMe and Ancestry, patients are increasingly aware of the availability, and power, of genetic testing, which can assist in prevention, diagnosis and treatment.

The testing universe is complex & growing, with more than 77,000 genetic tests available in the U.S., according to MedlinePlus.

There are multiple types of genetic tests. Major categories include:

  • Molecular tests that check for certain genes, proteins or other molecules that may be a sign of a disease or condition
  • Biochemical tests that analyze the activity level or number of enzymes or proteins produced from genes
  • Gene expression tests that measure which genes are turned on or off in different cells
  • Chromosomal tests that examine long lengths of DNA and chromosomes to identify large-scale changes

These tests all analyze genes, chromosomes and proteins differently and are chosen by a healthcare provider based on what condition or conditions are suspected.

Challenges surrounding genetic testing

“The top challenges related to genetic testing include inappropriate test selection and lack of formulary indicating preferred genetic reference labs for the health system,” O’Neal adds.

Provider selection of incorrect tests is driven in part by the quantity, with tests available for more than 22,000 conditions, according to the National Library of Medicine’s Genetic Testing Registry. The vast number of tests makes deciding on the right one for each patient very challenging. Some estimates have found that 30% of genetic test orders are inappropriate and 5% of genetic test orders are straightforward medical errors. These errors can be costly, both for patients and  for hospitals.

In addition, there are many different reference labs offering genetic tests varying in price and coverage. Some payors do not cover genetic testing and others restrict reimbursement. Depending on the nature and complexity of the test, genetic testing costs can range from under $100 to more than $2,000. “Taken together,” O’Neal says, “these challenges serve as a call to action for administrators to seek out opportunities to make changes, namely by instituting a lab stewardship program.”

Three reasons to consider lab stewardship

A lab stewardship program can help ordering providers choose the correct test and eliminate ordering errors. Here are three benefits to consider when determining if lab stewardship could help your organization:

  1. Healthcare systems can ensure providers receive evidence-based guidance on choosing genetic tests by creating a test and reference lab formulary.
  2. Electronic health record (EHR) rules and clinical decision support can minimize human error by optimizing test names, identifying appropriate circumstances to use tests and ensuring system search functions are programmed to display the most appropriate tests first.
  3. Test orders over a pre-determined cap can require a second level of approval, and EHR prompts can notify clinicians when ordering expensive or unreimbursed tests.

Some mistakes in test selection will always remain, but to drive errors down as low as possible, hospitals can choose to contract with a select group of reference labs that have been carefully vetted for quality and accuracy. Utilizing a large number of reference labs creates numerous complexities with ordering, tracking results 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 reduce the number of reference labs used while maintaining the quality that clinicians and patients depend on,” says O’Neal.

Ensuring the best care through optimized genetic testing

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, resources are 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.


Improve your lab’s financial & operational performance by putting HealthTrust’s comprehensive approach to work for your organization. Contact solutions@healthtrustpg.com to start the conversation.

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