Failure to properly interpret BRCA test results

Presentation

In December 2011, a 40-year-old woman came to her ob-gyn for a well-woman visit. The results of the pelvic examination were normal with no palpable masses or tenderness. Per the patient’s request, breast cancer susceptibility gene (BRCA) testing was scheduled to take place in 10 days.

The patient’s history included hospitalization for pulmonary embolism. Her family history included breast cancer (mother, two aunts, first cousin) and ovarian cancer (aunt).

Physician action

The patient’s BRCA report was received by the ob-gyn’s office in January 2012. The BRCA1 sequencing results indicated “positive for a deleterious mutation.” The report also stated that deleterious mutations in BRCA1 may confer as much as 87% risk of breast cancer and 44% risk of ovarian cancer by age 70.

When the ob-gyn received the report, he initialed them and underlined the phrase, “although the exact risk of breast cancer and ovarian cancer conferred by this specific mutation has not been determined….”

The ob-gyn documented that the patient’s BRCA testing was negative. There was no documentation that the physician informed the patient of the test results.

In December 2012, at her next well-woman exam, the patient complained of left lower abdominal pain, heavy periods, and urinary retention. The pelvic exam was again noted to be within normal limits with no palpable masses or tenderness. The patient was referred to a urologist.

In February 2014, the patient returned to the ob-gyn for another well woman exam. It was noted as unremarkable.

In September 2014, the patient returned to the ob-gyn reporting right-sided abdominal pain, constipation, and urinary tract infection. A week before, an abdominal and pelvic CT revealed multiple bilateral ovarian cysts. Free fluid was also present in the pelvic cul-de-sac. Urinalysis was positive for blood. The patient was instructed to call the office if her pain worsened. The ob-gyn documented that he would order a pelvic ultrasound if the patient’s pain worsened.

In September 2015, the patient was scheduled for pelvic prolapse repair surgery with a general surgeon. In preparation for surgery, the patient underwent a transvaginal ultrasound that revealed masses on both ovaries that were suspicious for metastatic cancer. Further testing confirmed the diagnosis of high-grade serous ovarian cancer.

In October 2015, the patient underwent an exploratory laparotomy, left salpingo-oophorectomy, infracolic omentecomy, and lysis of adhesions. The right ovary could not be removed due to tumor involvement in a previously placed hernia mesh and the extent of the disease in the abdomen. The patient underwent a second surgery for a total hysterectomy and right salpingo-oophorectomy. A course of chemotherapy followed.

In November, the patient called the ob-gyn’s office to provide an update on her health. There is no documentation of a return call in the medical record.

Allegations

The patient filed a lawsuit against the ob-gyn, alleging failure to properly interpret genetic testing results and failure to refer the patient for appropriate genetic counseling and treatment. It was further alleged that these failures led to the patient’s diagnosis of metastatic ovarian cancer.

Legal implications

Consultants who reviewed this case were critical of the ob-gyn. One consultant felt the BRCA analysis report clearly stated the patient tested positive for deleterious mutation and that this finding should have been addressed, especially given patient’s family history of cancer. The consultant stated that if the ob-gyn was uncertain about the report findings, he should have asked for clarification or more information.

Consultant opinions differed on whether the cancer had been there during the initial 2012 BRCA testing or if it had appeared later. They felt that the time frame from the BRCA testing to the diagnosis of cancer provided opportunity for either prophylactic surgery to avoid development of cancer or debulking and chemotherapy to lessen the severity of the cancer.

One consultant stated that had the patient been offered and undergone prophylactic debulking (bilateral removal of tubes and ovaries) surgery, she would have increased her chances of survival by 80-90%. This consultant also felt that the ob-gyn failed to interpret the BRCA report correctly.

Another consultant expressed the importance of understanding that ovarian cancer does not always initially present as a mass on radiographic studies. Microscopic masses may be present, and not detected. Other findings may be seen first, such as free fluid, ascites, or changes to the lymph nodes. This makes it difficult to diagnose ovarian cancer radiographically and it is often missed until it is advanced.

Disposition

The case was settled on behalf of ob-gyn A.

Risk management considerations

While the BRCA report may have been somewhat misleading or confusing, it did indicate a positive result for deleterious mutation. If uncertain about a test result and its meaning, make inquiries with the testing facility or consult with colleagues. They may provide conclusive information or serve as “another set of eyes” to either confirm or question your interpretation.

It is important to keep track of all tests ordered and received. Once a test is received, careful interpretation and timely consultation should take place. When notifying patients of test results, fully explain the results and answer all questions. Educate patients on all treatment options and, if necessary, refer to specialists to discuss further options.

Full documentation of the test result receipt, notification, education, referrals, and treatment options should all be maintained in the patient’s record. In this case, there was no documentation of test result discussions, education, or returned phone calls.

It is also important to obtain, assess, and document your patients’ family histories for hereditary risk factors. According to the American Cancer Society, certain cancers, including ovarian, can run in families. (1)

In this case, proper interpretation, communication, and education of treatment options may have resulted in a better outcome for the patient.