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Managing Genetic Tests Can Prevent Misorders, Avoid Costs, Stanford Study Shows

NEW YORK (GenomeWeb) – Active management of the use of complex genetic tests by doctors can help save hundreds of thousands of dollars in healthcare costs per year, according to researchers from Stanford University School of Medicine.

In a presentation at the American College of Medical Genetics and Genomics annual meeting in Tampa last week, David Stevenson, a medical geneticist at Stanford, showed that a genetic testing utilization service launched by Stanford University Medical Center a year ago helped cut the number of inappropriately ordered tests in half and saved about $250,000 in costs during the first year.

However, doctors were very reluctant to revise misorders of clinical exomes and large gene panels, suggesting that more precise guidelines are needed for the use of such tests.

The number and complexity of clinical genetic tests has increased steeply over the last few years, making it more likely that doctors order the wrong test for their patient. Such misorders can result not only in needless costs but also in delayed diagnoses and treatments. Previous studies have shown that managing how doctors utilize genetic tests can reduce the number of misorders, but the new Stanford study delved into the details of what types of tests are most commonly misordered and how they could be avoided.

Stanford University Medical Center fully implemented a genetic testing utilization service in January 2015, consisting of a genetic counselor, a molecular pathologist, and a medical geneticist who reviewed all high-complexity, send-out genetic tests ordered by Stanford physicians and provided them with recommendations for changes or alternatives if appropriate, which the providers were free to follow or ignore. According to Stevenson, tests reviewed included those with a price greater than $1,800, orders with multiple tests on the same request form, and requests for tests to be conducted by an international lab.

The team reviewed the orders after the patients' blood had already been drawn, which Stevenson acknowledged can be problematic if the order is subsequently changed to a different test because the patient has already been consented for a particular test and expects that test to be run, or because insurance may have already preauthorized a specific test.

Over a 12-month period, the service reviewed a total of 629 genetic tests in conjunction with patients' clinical data and identified 13 percent as misorders. The team was able to prevent about half of these, with more success for some types of misorders than others, and avoided about $250,000 in costs. Cost savings will likely decline in the future, Stevenson said, as providers get better educated and make fewer ordering mistakes.

In fact, the percentage of misorders initially started higher, at 23 percent, and decreased over time, Stevenson said, which he credited in part to his team's efforts to educate doctors about genetic testing options.

Still, about 6 to 7percent of tests were conducted even though the team deemed them inappropriate because providers did not follow their recommendations.

To better understand how some types of misorders were easier to amend than others, the researchers broke them down by category.

The largest fraction of misorders, 41 percent, came from controversial orders, where not enough data was available to prove a test's clinical utility for a particular patient. Most of these orders were for clinical exomes, for example, an exome ordered for a child with joint pain and other symptoms, and some were for large gene panels.

Doctors prescribing these tests were very reluctant to follow the team's recommendations — only 2 percent changed their order — and many argued that with a comprehensive test like an exome, it is likely some results will be found. However, not a single one of the controversial orders yielded a positive result, Stevenson said.

Clerical errors, where the provider marked the wrong test by mistake or accidentally chose a test with a similar name to the intended one, accounted for 18 percent of misorders and were completely eliminated once they were detected by the team.

Redundant tests, for example, an order for a clinical exome and an additional single-gene test for a gene that is well covered by the exome test, made up 10 percent of misorders and could also be prevented because doctors changed their orders accordingly.

Twenty-nine percent of misorders were cases where the service team thought a better alternative was available, such as when a provider ordered four single-gene tests when a next-generation sequencing panel existed that covered all those genes and 10 additional ones. This type of misorder was prevented in most cases as providers largely switched to the alternative test.

Two percent of misorders remained uncategorized — these included, for example, an order of a clinical exome test and a chromosomal microarray for a child with a known diagnosis of a chromosomal deletion. Many of these misorders were successfully avoided.

Going forward, more precisely defined and widely accepted guidelines for the use of clinical exomes and large panels are needed to reduce the number of remaining misorders, Stevenson said.