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?
In 2023, an oncologist referred a 34-year-old woman with a large, aggressive breast tumor for genetic counseling because her mother also had breast cancer and the patient was diagnosed at a young age. This young patient had triple-negative breast cancer, a type of tumor that has limited treatment options and poor outcomes. Once triple-negative breast cancer has spread to the lymph nodes, the five-year survival rate is 66 percent and drops to 12 percent if it has spread to other parts of the body.
The genetic counselor reviewed this patient's medical and family cancer history during the appointment and saw in the medical records that her mother had been diagnosed with bilateral breast cancers at age 44 and again at 63. The mother's last diagnosis had been three years earlier, at a practice in the same health system where her daughter was receiving care. At that point, in 2020, the mother had received genetic testing for 11 genes associated with increased risk for breast, ovarian, and other cancers, including BRCA1 and BRCA2, and received pre-test counseling from a nurse practitioner and post-test telehealth counseling from her surgeon.
How was this case solved?
Testing revealed the mother had a BRCA1 pathogenic variant, putting her and any blood relatives who had inherited the same variant at heightened risk for breast, ovarian, prostate, and pancreatic cancers. In post-test counseling notes, the surgeon wrote that the mother was "strongly advised" to speak to her daughter and two siblings about getting tested for the same variant. However, according to the genetic counselor, the daughter didn't know her mother had a BRCA1 pathogenic variant or that she also should have been offered testing. The genetic counselor ordered genetic testing for her patient, which showed she, too, had inherited the familial variant.
Why is this case concerning?
A young woman with a familial risk for breast cancer missed out on the chance to learn her own risks in time to receive screening for early diagnosis and/or prophylactic surgeries that could have prevented her own breast cancer at age 34. "Had this young woman learned this information three years earlier, it is possible that her breast cancer could have been prevented or diagnosed at an earlier, treatable stage," the genetic counselor said.
Although the surgeon's notes indicate that the need for familial testing was discussed with the mother, the genetic counselor doubts that the importance of cascade testing was properly emphasized.
The genetic counselor worked in the same health system where the mother and daughter were patients and had long been concerned about the particular practice where the mother received care. She was aware that the mother's surgeon and nurse practitioner routinely performed "genetic counseling" themselves and did not refer patients to the certified genetic counselors available at two hospitals in the same health system.
According to the genetic counselor, the nurse practitioner had a sign on her office door that read, "genetics nurse expert," but upon further investigation, the genetic counselor learned that the nurse didn't have any formal genetics training and had only gone to lectures provided by commercial genetic testing labs. The genetic counselor had seen another patient for whom this same nurse had ordered testing for a limited number of genes even though this patient's family and medical history indicated the need to test a wider range of genes. When the genetic counselor told the nurse that this patient needed testing on an expanded gene panel, the nurse didn't know how to order it. After other conversations with this nurse, the genetic counselor questioned whether the nurse understood the difference between a pathogenic variant and a variant of unknown significance, which should not be used to make management decisions.
The genetic counselor discussed this case with administrators at the health system, and they agreed that a provider claiming to be a "genetics expert" without the proper training or certifications is a liability. They revoked this nurse's privileges to provide genetic counseling and testing and took the sign off her door.
What could have been done differently?
There is another possible scenario where the mother was advised to tell her daughter about testing, but she did not because she was uncomfortable doing so, pointed out Ellen Matloff, a certified genetic counselor and president and CEO of the digital health firm My Gene Counsel. "There are a million reasons why people don't share test results with family members," said Matloff. "On the other hand, genetic counselors are uniquely trained to deal with the psychosocial and family dynamics involved here and maximize the chance that a patient would share these results with family members and understand exactly how critical that could be."
Genetic counselors receive graduate-level training for the services they provide, including taking a patient's family history of a particular disease; explaining why genetic testing may be necessary for the patient and family members; ordering genetic tests; communicating the results and what they mean for the patient's and relatives' health; and facilitating testing for family members.
The daughter's genetic counselor pointed out that the nurse's notes about what went on during pre-test counseling of the mother were sparse, indicating simply "guidelines, indications for testing, possible test results and management were discussed." If a certified genetic counselor had done the pre-test counseling, the notes would likely have been far more detailed and included extensive information on the family's cancer history and which relatives were at risk, she said.
"My personal feeling is if the mother was referred to … one of my genetic counselors, she would have learned the importance of having her daughter tested," this genetic counselor said. "The daughter maybe could have been present with her mom at genetic counseling to also hear the information … as relatives often come along."
There may be economic reasons for why, at the practice where the mother was seen, providers were not referring patients to genetic counselors despite their availability within the healthcare system. At present, genetic counselors aren't recognized as healthcare providers by the US Centers for Medicare & Medicaid Services and often aren't by commercial payors, limiting their ability to bill for the services they provide. At the same time, the need for genetic counseling is increasing as more genetic tests are being performed, and healthcare systems are allowing doctors, nurses, and other providers, who can more reliably bill for their services, receive training and certifications to perform genetic counseling.
But there are major pitfalls to this strategy, Matloff pointed out. "When you start calling people a genetics expert and putting up a sign, maybe because they would be better able to bill from CMS, the danger is that you may be getting someone whose only training is from a genetic testing company at a paid dinner, or a few hours or a week of training," Matloff said.
Commercial insurers' policies aren't clear on what training is needed before a doctor or nurse can claim proficiency in genetic counseling and bill for services. And as this case suggests, there may not be sufficient oversight within health systems to ensure providers are performing genetic counseling with sufficient training. "Think of the costs associated with this one case alone — emotional, physical, psychosocial, and the hundreds of thousands of dollars to cover the extensive treatments and hospitalizations she will require," Matloff said. "And this young patient may not survive. Her late-stage diagnosis might have been prevented if she had been referred to a certified genetic counselor."
"No healthcare provider is perfect," Matloff said, but noted that certified genetic counselors have graduate-level training to understand the implications of a positive test result for at-risk family members and are trained, whenever possible, to encourage the patient to invite other at-risk family members for counseling or testing, and to follow up with the patient to make sure that happens. "The system is not always perfect, but that is part of the genetic counseling graduate training and our ongoing certification education."