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Choosing Genetic Testing: The Science and Patient Experience

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By: Nicole B. Perez, PhD, RN, PMHNP-BC,

I’ll never forget the sound of my mom’s voice when she called to tell me she had cancer. She was struggling to get the words out, choking back tears that were so uncharacteristic of her typical buoyancy. She told me that she had a large abdominal mass, and her doctors hadn’t yet confirmed her diagnosis. Later that day she emailed me her computed tomography report. Amidst the clutter of radiologic technobabble, I spotted “diffuse,” “metastatic,” and other terrifying adjectives. In that instant, my hopes for anything but cancer evaporated—condensing into the dread that the primary tumor was ovarian.

I suspected ovarian cancer for two reasons, one more rational than the other. In my work as a nurse scientist, I study how the interplay of genetics and our environment contribute to disease risk, so I knew that because my mom was positive for a BRCA2 gene mutation she had an increased risk of breast and ovarian cancer. The other reason—if we can call it that—was me simply assuming the worst-case scenario knowing that the prognosis for ovarian cancer is notoriously poor. In my clinical practice—I’m a psychiatric mental health nurse practitioner—we call this catastrophizing. Knowing this added a nice layer of self-judgment to my state of panic.

Two years earlier, my mom was tested for BRCA1 and BRCA2 gene mutations after finding out that her sister had BRCA-associated breast cancer. Women with mutations in either of these genes have a higher chance of developing several cancers than the general population, especially breast and ovarian. The good news is that advances in breast cancer screening—specifically mammography, ultrasound, and magnetic resonance imaging—mean that women with these mutations can be diagnosed early if closely monitored. But ovarian cancer is much harder to screen for, so it’s not usually diagnosed until it’s stage III or IV. Because of this, prophylactic oophorectomy is recommended for women who are BRCA1 and BRCA2 positive either after age 40 or after childbearing is complete. Unfortunately, when my mom was tested, none of these recommendations were communicated to her. She was diagnosed with stage III ovarian cancer 2 years later, a diagnosis that might have been avoided had she been aided in making an informed decision.

When I asked her about her experience with genetic testing, she recalled that her primary care provider ordered the test and that it was covered by insurance since she had a positive first-degree relative. She was told she was positive for a BRCA2 mutation and then informed by the practice nurse that she could opt for genetic counseling. She declined. As nurses, we know that many reasons influence our patients’ decisions about care, including cost, limitations in health literacy, and anxiety. Genetic counseling may not be covered by insurance even if the cost of the test is, which seems short-sighted considering the benefits of testing rely on appropriate medical management.

At the risk of stating the obvious, it’s important to acknowledge that genetic testing is complex. Misunderstandings surrounding genetic testing can lead to fear and psychological distress that trigger denial, avoidance, and passivity. Anxiety-provoked thoughts founded on misperceptions can affect decision-making and allow patients to overemphasize the risks (such as cost and learning something they’d rather not know) of genetic counseling. But there are benefits to genetic counseling too. Patients deserve to know these benefits so they can make informed decisions.

As nurses, we honor our patients’ autonomous choices as capable adults, but we owe it to them to ensure that they understand the risks, benefits, and alternatives of pursuing or declining care so they can make truly informed decisions. This obligation means we must understand science well enough to explain it and psychology well enough to know when our patients are too overwhelmed to receive new information.

In psychotherapy, we frequently consider the “window of tolerance,” a level of arousal in which growth and learning can occur. In stressful situations, shock and fear can push us beyond this window, inhibiting our capacity for encoding new information. Our patients might indicate understanding, but outside the window of tolerance, brains are like Teflon.

Genetic testing done right

Once my mom was diagnosed, I decided to pursue genetic testing. My testing experience, however, was so different that it made plain how disparate and variable genetic testing experiences care can be.

The care I received was consistent with the current guidelines, which involve pre-testing counseling from a certified genetic counselor before consent for testing is obtained. Genetic counselors are mastered-prepared specialists who perform detailed family histories and are trained to advise on risks of genetic variants based on the specific patterns of penetrance or heritability—which can vary by gene. Results are rarely as simple as positive or negative and direct-to-consumer marketing can mislead both patients and providers without prior genetics training as to the ease of interpretation. Pre-testing counseling includes a discussion of what each possible result would mean and the corresponding preventive recommendations vs. considerations—a nuance I didn’t fully appreciate before my appointment. Considerations—such as prophylactic mastectomy for women with BRCA2 variants—are a step down from recommendations, precisely because advances in screening have made it possible to detect breast cancer earlier. Pre-testing counseling provides an opportunity to ask questions, consider the risks and benefits of testing, and reflect on personal willingness to follow through with recommendations before testing (when someone is more likely to be within a window of tolerance).

Nurses are champion patient educators and advocates, and until pre-testing counseling is required for testing coverage by insurers nurses must continue to be that last line of defense and encourage patients to receive this evidence-based intervention. Without proper genetic counseling, patients are at risk of unnecessary psychological distress and errors in care ranging from ordering the incorrect test to care mismanagement including lack of appropriate surveillance and unwarranted prophylactic surgeries.

As cancer genetic testing becomes more widely available, nurses must have a basic understanding of genetics and an appreciation for the complexity of this rapidly developing field. In addition to referring patients to genetic counselors, nurses also can pursue training to become certified in genetic counseling. Given the level of burden and complexity the healthcare system currently sustains, it’s unrealistic to expect that all nurses and primary care clinicians have the knowledge, training, and time for adequate counseling to support informed consent. When it comes to improving health, advances in science will never be able to surpass the capacity of those who deliver care.

After six rounds of chemotherapy, surgery, and a series of hospitalizations, my mom is beating the odds and remains cancer-free. In light of all that she went through, what a joy it was to be able to call her with the news that she had not passed this variant on to me and by extension her granddaughter. I told her that although our cancer risk isn’t zero, she can be assured our odds are significantly lower. A beat of silence followed. As the tears flowed this time, they were tears of relief, gratitude, and hope.

References

American Medical Association. Informed consent. ama-assn.org/delivering-care/ethics/informed-consent

Beauchamp TL, Childress JF. Principles of Biomedical Ethics. 6th ed. Oxford, UK: Oxford University Press; 2008.

Brierley KL, Blouch E, Cogswell W, et al. Adverse events in cancer genetic testing: Medical, ethical, legal, and financial implications. Cancer J. 2012;18(4):303-9. doi: 10.1097/PPO.0b013e3182609490

Brierley KL, Campfield D, Ducaine W, et al. Errors in delivery of cancer genetics services: Implications for practice. 2010;74(7):413-23.

Siegel DJ. The Developing Mind: How Relationships and the Brain Interact to Shape Who We Are. 3rd ed. New York, NY: Guilford Press; 2020.

Susan G. Komen. Genetic counseling and genetic testing. April 6, 2022. komen.org/breast-cancer/risk-factor/gene-mutations-genetic-testing


Nicole B. Perez, PhD, RN, PMHNP-BC, is a Postdoctoral Associate at the P20 Center for Precision Health in Diverse Populations, NYU Rory Meyers College of Nursing.

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