Precision Oncology News and My Gene Counsel co-produced the “Challenges of Genetic Testing in Oncology” series to highlight real-world issues faced by geneticists and medical professionals as genetic testing is increasingly used in cancer care. Experts submit anonymous case reports to My Gene Counsel, and based on the details in those reports, Precision Oncology News writes a feature describing case histories, the challenges professionals faced in dealing with the case, and the strategies they used in response to challenges or errors. Features also include a discussion with My Gene Counts genetic counseling experts about best approaches to consider should you encounter similar situations in the future. By publishing this series, our goal is to educate experts in the field and promote discussion. If you would like to submit a status report, please send an email [email protected].
A 49-year-old male patient diagnosed with metastatic, poorly differentiated, stage IIIb, triple-negative breast cancer. Around this time, a surgeon ordered genetic testing of this patient, who is of African American descent, to determine if she had inherited a pathogenic variant associated with an increased risk of cancer. The patient did not receive pre- or post-test genetic counseling from a genetics expert to help her understand why this risk assessment was important to her care.
The patient decided, however, not to stay with this doctor and had a bilateral mastectomy with another surgeon. Then in June 2021, the patient’s oncologist sent her to see a genetic counselor after learning she had previously had genetic testing. At the genetic counseling session, the patient refused genetic testing because she had already received it through her previous surgeon. The patient said she did not know her results and had never seen her report. The genetic counselor asked the patient to request copies of the report from the first surgeon.
How was the case resolved?
Despite calling the surgeon’s office and requesting her results, this patient was unable to access her medical information. A year later, in June 2022, when the patient went to see the genetic counselor for the second time, she claimed that the first surgeon’s office refused to release his results because of an outstanding bill.
The genetic counselor advised the patient to call the surgeon’s office again and try to find out which laboratory performed the analysis. The office provided the names of three laboratories at this facility that doctors at this facility order tests from, but not the name of the specific lab that performed this particular patient’s test. The patient signed medical release forms that allow the genetic counselor to contact these laboratories and request reports on her behalf. A genetic counselor located the laboratory that performed the genetic examination of the patient and received a copy of the results in August 2022. The report revealed that this patient had a pathogenic variant of BRCA1 associated with an increased risk of breast, ovarian and other cancers.
The genetic counselor called the first surgeon’s office and spoke with a medical assistant about this patient’s condition. The medical assistant said the doctor’s office did not document whether genetic test results were disclosed to the patient and claimed there were no records of any calls the patient said she made to obtain a copy of the report. The medical assistant claimed that the office did not even have a copy of this patient’s genetic test results, even though the patient’s test report indicated that a surgeon from that facility ordered the test and it is standard practice for laboratories to send copies of test results to the attending physician.
The patient is now discussing bilateral salpingo-oophorectomy with her oncologist, as recommended based on her cancer history and genetic testing results. After discussing the test result with the genetic counselor and understanding that the same disease-causing BRCA1 variant may be inherited by other blood relatives, the patient shares this information with family members.
Why is this issue troubling?
Triple-negative breast cancer is an aggressive disease with limited treatment options and patients with this subtype of breast cancer tend to have an especially poor prognosis and survival. However, breast cancer patients with pathogenic variants in the BRCA1 germline may be eligible for targeted therapy with PARP inhibitors. This situation is alarming because a woman with an aggressive form of breast cancer has been denied access to genetic test results that could have been important in her treatment.
said Elaine Matloff, a certified genetic counselor and president and CEO of health technology company My Gene Counsel.
Moreover, the pathogenic BRCA1 variant is also associated with an increased risk of ovarian cancer and other cancers. In that one-and-a-half-year period where the patient did not know she was a carrier of the BRCA1 pathogenic variant and therefore did not know that removal of her ovaries and fallopian tubes had been recommended,” she may have developed ovarian cancer, Matloff said.
Moreover, the hereditary cancer risk variant has implications not only for the carrier but for her blood relatives. Matloff added that withholding the results from this patient led to a delay in testing and screening for other family members who may have the same variant, but they did not know it, noting that at that time it was possible that one of the relatives had cancer that could have been prevented or prevented. It was diagnosed earlier.
What could have been done differently?
Although the details of this patient’s financial dispute with the first surgeon are unknown, this case raises questions about medical ethics. “The results of this patient’s genetic testing were not withheld by the doctor,” Matloff said. “Withholding genetic test results that could influence a patient’s surgical decision, treatment, chance of developing a new primary cancer, and risks to family members is completely unethical.”
She pointed out that the genetic counselor had no problem obtaining the results of the genetic examination from the laboratory that performed it. This is most likely because Privacy Act for Health Insurance Portability and Accountability It gives patients a broad right to request, receive, and review medical records held by health care providers. Health care facilities are required to provide results within 30 days of a patient’s request for these records, and they cannot deny the request because the patient has not paid for health services.
Therefore, this surgeon’s office should not withhold this patient’s genetic test report, Matloff said, adding that such actions could have negative repercussions for the physician, such as being reported to the state medical board or facing a HIPAA violation complaint.
In this case, it may be that the doctor did not fully understand the implications of a positive genetic test result. As such, Matloff stressed the importance of referring patients to genetics experts who have such an understanding as well as an appreciation of the medical ethics surrounding genetic testing. “Frankly, the medical ethics issues raised in this case would apply to any test and are not limited to genetic testing,” Matloff said. “It’s only when you block [germline] Genetic test results, not only are you harming the patient in front of you, you are also potentially burdening an entire family and multiple individuals.”
Finally, this patient is a person of color. Given the negative experiences people of color have historically had in the American medical system, Matloff said this surgeon’s behavior raises additional questions in her mind about implicit discrimination and bias.