Skip to main content
Premium Trial:

Request an Annual Quote

Genetic Testing Challenges in Oncology: No Follow-up on Insurer Denial Delays Cancer Risk Management

Precision Oncology News and My Gene Counsel have partnered to produce the "Genetic Testing Challenges in Oncology" series to highlight real-world issues that genetics experts and medical professionals are encountering as genetic tests are increasingly used in cancer care. Experts submit anonymized case reports to My Gene Counsel, and based on the details in these reports, Precision Oncology News writes a feature that describes the case history, challenges encountered by professionals in dealing with the case, and strategies they used in response to challenges or errors. The features also include a discussion with My Gene Counsel genetic counseling experts on better approaches that could be considered if similar cases are encountered in the future. In publishing this series, our aim is to educate experts in the field and foster discussion. If you would like to submit a case report, please email [email protected].

What happened?

A 44-year-old woman with breast cancer came to see a surgeon to discuss risk-reducing surgical options. Three years earlier, she had also been diagnosed with papillary thyroid cancer. Now, because of her breast cancer diagnosis, the patient had come from a small, rural community practice to see a surgeon at a large cancer center. During the appointment with the surgeon, the woman mentioned her oncologist at the community practice had ordered genetic testing, but she hadn't received the results.

Based on the conversation with the patient, it wasn't clear to the surgeon if genetic testing had been ordered but not performed or if the results simply hadn't been communicated to the patient. Since there were no genetic test results sent by the patient's previous oncologist with other records, the surgeon asked a genetic counselor to find out the status of the test. The surgeon was especially interested to see the results because this woman, as an early-onset breast cancer patient, met the National Comprehensive Cancer Network's guidelines for genetic testing to assess her inherited cancer risk.

The genetic counselor reached out to the first provider and discovered that despite the patient meeting NCCN guidelines for genetic cancer risk assessment, her insurer had denied coverage for the test. However, no one from this physician's office had followed up with the insurance company to ask why or had come up with a plan to still try to provide testing despite the coverage denial.

How was the case resolved?

The genetic counselor noted this patient had some concerning cancer history in the family. The patient recounted that she had a brother with "a tumor in his leg" at age 19, who passed away two years later. Although there was no confirmation of his diagnosis, the genetic counselor assumed the brother likely had an osteosarcoma. The patient's father had died at age 32 from a mining accident, but she mentioned several relatives in both paternal grandparents' families with cancers of unknown primary. She flagged a paternal cousin who had melanoma at age 27. On her mother's side there were some cancer cases, but the pattern didn't meet specific genetic testing criteria.

Based on the patient's experience with early-onset cancers and her family's cancer history, the genetic counselor ordered genetic testing through another lab and this time it was covered by insurance. The results showed the woman had a germline pathogenic variant in the TP53 gene, which was confirmed in a second test using a punch biopsy sample of normal tissue.

Individuals who harbor a TP53 pathogenic variant have Li-Fraumeni syndrome, an inherited condition associated with a 73 percent to 100 percent lifetime risk for a variety of cancers, mainly female breast cancer, sarcomas, brain tumors, and adrenocortical carcinoma. Around half the individuals with TP53 pathogenic variants develop multiple cancers, and because these variants can also increase the risk of pediatric tumors, guidelines recommend cancer screening at childhood.

The knowledge that this patient harbored a TP53 variant helped her understand why she developed early-onset breast cancer, and it influenced her relatives' decisions to get tested for the same variant. At least one-third of female breast cancer patients with TP53 pathogenic variants end up developing cancer in the other breast. As such, a breast cancer patient with a TP53 pathogenic variant should consider bilateral mastectomy to reduce her future breast cancer risk.

The genetic test results were also of interest to the patient's doctors, who were trying to decide whether to treat her with radiation. According to the NCCN's guidelines and recent recommendations from other professional cancer societies, Li-Fraumeni syndrome patients should avoid radiation therapy since this may further increase cancer risks in individuals who already have a higher proclivity for these diseases.

The genetic counselor explained the test results, the associated risks, and treatment considerations to the patient so she could develop a plan with her oncology team.

Upon the genetic counselor's advice that other family members also consider genetic testing, the patient was highly motivated to ensure that her close relatives knew that they could also harbor this same TP53 variant and what that meant for their cancer risks. Several relatives got tested, including the patient's two children, her mother, sister, and her sister's two children.

While the patient had been undergoing genetic assessment, her sister had been feeling ill and got screened for colon cancer. Genetic testing revealed that the sister, who was subsequently diagnosed with colon cancer and later a sarcoma, harbors the same pathogenic TP53 variant.

Why is this case concerning?

It's concerning that a patient may not have gotten genetic testing that was critical to her and her sister's medical care because her insurer denied coverage and her oncologist failed to follow up and explore ways to resolve the issue. These types of situations aren't that uncommon, according to Meagan Farmer, a genetic counselor and genetic clinical operations director at My Gene Counsel. "I've seen patients in this situation where you call for genetic test results and then you realize they just never got any testing and no one looked into it," she said.

The oversight is even more disturbing, Farmer reflected, when one considers how important the results turned out to be for this patient's cancer management and treatment, and potentially for her relatives, too. "We always want timely genetic testing when someone has breast cancer because it could affect things like surgery planning," Farmer said. "But in this case, having timely genetic test results was especially important for treatment decisions since with Li-Fraumeni syndrome, radiation is usually contraindicated because it could increase your risk of cancer down the road." Having these genetic test results allowed the patient to make informed choices about her treatment.

It's not clear why this patient's insurance company initially denied coverage for genetic testing since she had early-onset breast cancer and met NCCN's testing guidelines for hereditary cancer risk assessment. In recent years, insurers have noted that their spending on genetic testing is increasing and have put prior authorization policies in place to make sure that the tests doctors are ordering align with their coverage criteria and are "medically necessary." While appealing coverage denials and navigating prior authorization holds can be time consuming for physicians and genetic counselors, labs have tried to limit the burden through financial assistance programs and lower out-of-pocket test pricing for patients who lack coverage.

It surprised Farmer that this patient's genetic testing was on a billing hold because the genetic counselor in this case said testing was initially ordered from a "reputable" lab. "A lot of labs now have pretty patient-friendly billing and financial aid policies," Farmer said. "Since the second test order was covered by the patient's insurer, it also makes me wonder if perhaps the initial provider's office didn't order the test correctly or it was coded incorrectly in billing."

key takeaways_Li Fraumeni syndrome

What could have been done differently?

Whatever the issue may have been, the patient's oncologist should have followed through and explored why genetic testing hadn't been done and placed on a bill hold, Farmer said. By following up sooner, the oncologist could have corrected any billing errors or could have made the case to the insurer that this early-onset breast cancer patient met clinical guidelines for genetic testing. If the insurer continued to deny coverage, "the doctor could have asked the genetic testing lab about financial aid or self-pay pricing options or considered ordering testing through another lab that did have these options," Farmer said.

She also wondered if the first provider had any suspicion that this patient may have had a hereditary cancer predisposition syndrome like Li-Fraumeni. Although the sister was experiencing colon cancer symptoms right around the time the patient was getting her genetic testing work-up, the patient's brother had a suspicious cancer at a young age and there were multiple cancers of unknown primary in her father's side of the family. Although this patient's family cancer history may not have perfectly aligned with the most common types of tumors seen with Li-Fraumeni syndrome, Farmer observed that there were enough reasons here for the provider to order genetic testing for this patient and to make sure it was done quickly.

The genetic testing that was eventually done was critical to this patient's diagnosis of Li-Fraumeni syndrome and the diagnosis was not only important for developing a treatment plan for her but impacted cancer risk assessment for her relatives, too, Farmer said, "but there was no sense of urgency in the first provider."