Precision Oncology News and My Gene Counsel have partnered to produce the “Challenges of Genetic Testing in Oncology” series to highlight the real-world issues that genetic experts and healthcare professionals face as genetic testing are increasingly used in cancer care. Experts submit anonymous case reports to My Gene Counsel, and based on the details of these reports, Precision Oncology News writes an article that outlines the history of the case, the challenges faced by the professionals in handling the case, and the strategies they used in response to challenges or mistakes. Features also include a discussion with the genetic counseling experts at My Gene Counsel about the best approaches that could be considered if similar cases are encountered in the future. In publishing this series, our goal is to educate experts in the field and foster discussion. If you would like to submit a case report, please email [email protected].
In February 2021, a 49-year-old patient was diagnosed with stage IIIB metastatic triple-negative invasive ductal breast cancer. At that time, the surgeon ordered genetic testing for this patient 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 genetic counseling before or after the test from a genetics expert to help her understand why this risk assessment was important to her care.
The patient, however, decided not to stay with this physician and had her bilateral mastectomy performed with another surgeon. Then, in June 2021, the patient’s medical oncologist sent her to see a genetic counselor after learning that she had already undergone genetic testing. During the genetic counseling session, the patient refused the genetic test because she had already received it through her former surgeon. The patient shared that she did not know her results and had never seen her report. The genetic counselor instructed the patient to request copies of the report from the first surgeon.
How was the case resolved?
Although she called the surgeon’s office and asked for 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 a second time, she claimed the first surgeon’s office refused to release her results because she had an unpaid bill.
The genetic counselor advised the patient to call back this surgeon’s office and try to find out which lab had performed the test. The office provided the names of three labs that doctors at this facility order tests from, but not the name of the specific lab that performed the test for this particular patient. The patient signed medical release forms allowing the genetic counselor to call these labs and request reports on her behalf. The genetic counselor located the lab that performed the patient’s genetic testing and received a copy of the results in August 2022. The report found that this patient had a pathogenic BRCA1 variant associated with an increased risk of breast cancer, ovarian and other cancers.
The genetic counselor called the first surgeon’s office and spoke with a medical assistant about this patient’s case. The medical assistant said the doctor’s office did not document whether the genetic test results were disclosed to the patient and claimed there was no record of any calls the patient 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 the surgeon at this facility ordered the test and that he is from common practice for laboratories to send copies of test results. to the prescribing physician.
The patient is now discussing bilateral salpingo-oophorectomy with her oncologist, as would be recommended based on her cancer history and genetic test results. After discussing her test result with the genetic counselor and understanding that the same pathogenic BRCA1 variant can be inherited by other blood relatives, the patient shares this information with her family members.
Why is this case of concern?
Triple-negative breast cancer is an aggressive disease with limited treatment options, and patients with this breast cancer subtype tend to have a particularly poor prognosis and survival. However, breast cancer patients with pathogenic BRCA1 germline variants may be eligible for targeted treatment with PARP inhibitors. This case is concerning because a woman with aggressive breast cancer was denied access to genetic test results that could have been important to her treatment.
“Withholding these test results could mean that this patient did not receive a precision medicine that she may have needed to treat her breast cancer and it may have changed her result and her prognosis,” said Ellen Matloff, counselor. in Certified Genetics and President and CEO of health technology company My Gene Counsel.
Additionally, a pathogenic BRCA1 variant is also associated with an increased risk of ovarian cancer and other cancers. During this one-and-a-half-year period where the patient was unaware that she was a carrier of the pathogenic BRCA1 variant and, therefore, unaware that removal of the ovaries and fallopian tubes was recommended, she” may have developed ovarian cancer,” Matloff said.
Moreover, an inherited variant of cancer risk has implications not only for the carrier, but also for their blood relatives. Withholding this patient’s results therefore delayed testing and screening of other family members who might have the same variant but were unaware of it, Matloff added, noting that at that time a relative could have develop cancer that could have been prevented. or diagnosed earlier.
What could have been done differently?
Although the details of this patient’s financial dispute with the first surgeon are not known, this case raises questions of medical ethics. “The results of this patient’s genetic testing were not at the discretion of this physician,” Matloff said. “Withholding genetic test results that could impact patient surgical decision-making, therapy, risk of a new primary cancer, and risk to family members is totally unethical.”
She pointed out that the genetic counselor had no problem obtaining the results of the genetic test from the laboratory that performed it. It’s probably because the Health Insurance Portability and Accountability Act Privacy Rule gives patients a broad right to request, receive and review medical records that health care providers have on them. Healthcare facilities must provide results within 30 days of a patient’s request for these records, and they cannot refuse a request because the patient has not paid for healthcare services.
Therefore, this surgeon’s office should not have withheld this patient’s genetic test report, Matloff said, adding that such actions could have negative ramifications for a doctor, such as being reported to the medical board of the hospital. State or be the subject of a complaint of violation of HIPAA.
In this case, the doctor may not have fully appreciated the ramifications of a positive genetic test result. As such, Matloff emphasized the importance of referring patients to genetic 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 all tests and are not specific to genetic testing,” Matloff said. “It’s just that when you hold back [germline] genetic test results, you not only hurt the patient in front of you, but you potentially weigh down an entire family and many people. »
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 raised additional questions in his mind about discrimination and implicit bias.