Precision Medicine Online and My Gene Counsel have partnered since 2019 on the "Genetic Testing Challenges" series to highlight real-world issues medical professionals are encountering as genetic tests are increasingly used in patient care. Healthcare providers and genetics experts share anonymized case reports with My Gene Counsel, and based on the submitted details, Precision Medicine Online writes features that describe the case history, difficulties encountered by professionals managing the cases, and how they responded to challenges or errors. The features also include a discussion with My Gene Counsel genetic counseling experts on better approaches for addressing similar challenges in the future. In publishing this series, our aim is to educate and foster discussion among professionals interested in improving precision medicine access. If you would like to submit a case report, please email [email protected].
What happened?
Since she was 5 years old, a female patient had a history of ataxia — falling down, slurred speech, weakness, and difficulty with tasks like writing. Now 22 years old, she had symptoms of peripheral neuropathy and came to see a neurologist, who ordered nerve conduction velocity testing, which gauges how quickly electrical signals move through nerves, and electromyography, which measures electrical activity in muscles. These tests confirmed she had peripheral sensory neuropathy. Additionally, her neurological exam identified muscle stiffness and weakness in her legs and abnormal eye movements.
The neurologist noted the need to screen her for genetic causes of neuropathies. Once the results became available, the neurologist told the patient that testing wasn't diagnostic, meaning it didn't find any pathogenic genetic variants associated with neuropathy. However, the neurologist referred her to the medical genetics department for further evaluation of her condition.
How was this case solved?
At the genetics department, the genetic counselor reviewed the neurologists' referral and accompanying notes and saw that the doctor had ordered a genetic test for cardiomyopathy — instead of neuropathy — through a well-known lab's sponsored testing program. This particular program included the option to order cardiomyopathy and neuropathy tests, and it was immediately clear to the genetic counselor that the neurologist had selected the wrong test. When the genetic counselor told the patient about the error, she was initially confused since she was under the impression that not only had her neurologist ordered genetic testing for neuropathy but that the results had been negative.
The genetic counselor ordered the appropriate test to assess the patient comprehensively for genetic abnormalities associated with ataxia. The results showed that this patient had a mutation in the SACS gene known to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). People with this inherited condition have abnormally tense muscles, coordination problems, and reduced sensation in the arms and legs, which fit the symptoms this patient had.
Although the neurologist had ordered the cardiomyopathy test erroneously, the patient didn't incur any out-of-pocket costs since it was through a sponsored testing program. Her insurance company covered the ataxia genetic test, and she also qualified for financial assistance through the lab, which limited her out-of-pocket cost to $100. After receiving an accurate diagnosis for ARSACS, this patient was able to receive appropriate treatment.
Why is this case concerning?
This case is similar to so many others in this series, in which medical providers have ordered the wrong test or interpreted test results incorrectly, said Ellen Matloff, a certified genetic counselor and president and CEO of the digital health firm My Gene Counsel. This case is concerning because the neurologist not only ordered the wrong test but also didn't recognize the error even after seeing a report containing genetic information entirely unrelated to ataxia. According to the genetic counselor involved in this case, that report said that this patient had several variants of uncertain significance in genes associated with cardiomyopathy.
"It just tells us that many non-genetics medical professionals are unfamiliar with genetic testing, even when they're ordering tests for conditions in their specialty," said Matloff. Unfortunately, she has seen mistakes like this throughout her genetic counseling career. One of her first cases was a patient who Matloff determined needed to undergo testing for pathogenic variants in the BRCA1 and BRCA2 genes to gauge her inherited predisposition for breast and ovarian cancer. However, the patient insisted that her doctor had already ordered this testing through Quest Diagnostics and the results were negative.
This seemed highly unlikely to Matloff, since Myriad Genetics was the only provider of BRCA1/2 testing at the time. Matloff asked for a copy of the results and upon receiving it, realized that this patient's physician had typed in "genetic testing" into Quest's test menu online and ordered the only option that came up: a genetic test for muscular dystrophy. "Ordering errors happen all the time. The field is changing rapidly, and it is difficult to keep up," Matloff said. "But in this case, it's very notable that this expert not only ordered the wrong test but didn't recognize it was the wrong test when the results came back."
What could have been done differently?
Fortunately, the neurologist referred this patient to the medical genetics department, and the genetic counselor quickly noticed the neurologist's ordering error, which avoided delays in this patient's care. It's further lucky that the patient didn't incur any out-of-pocket costs for the unnecessary cardiomyopathy test, since the neurologist had ordered it through a sponsored testing program. Moreover, the genetic counselor had no issues getting the patient's insurance to cover the appropriate genetic test for ataxia.
Within sponsored testing programs, one of the genetic testing lab's research partners are typically footing the bill for access to the anonymized data. "That sponsor still paid for this wrong test, though, and money could have been saved if the right test had been ordered upfront," Matloff said. "When we're looking at how to make precision medicine more accurate, but also more streamlined, efficient, and cost effective, we really need to make sure that genetic counselors are part of the process."
Cases like this underscore the need for the Centers for Medicare & Medicaid Services to recognize genetic counselors as medical providers, in Matloff's view. The genetic counseling community has been working for years to achieve Medicare recognition through legislative change, which it says would not just improve access to genetic counseling services for Medicare patients but also improve recognition of the professions' value with commercial payors, allow healthcare institutions to hire more genetic counselors, and save the healthcare system money by helping avoid errors like those in this case.
"It will actually save the payors, providers, and the healthcare system money if we can get genetic counselors doing the work correctly upfront," Matloff said. "Let's say this patient hadn't seen a genetic counselor and had just been told by the doctor, like many people are, that they don't have any disease-associated variants. What would have happened to this patient? What would have happened to her family members? Would they have ever had the correct diagnosis?"