Kristin Daly, MSN, ANP-BC, AOCNP, discusses pathogenic variant testing and what it means for oncology nurses.
As cancer care becomes more precise, testing for pathogenic variants has become even more relevant in optimal treatment planning, according to Kristin Daly, MSN, ANP-BC, AOCNP. As such, oncology nurses can play a role in ensuring that patients do not need to undergo unnecessary or repeat testing.
“It is an exciting time,” she said in an interview with Oncology Nursing News®. “Biomarkers and precision medicine [are] helping us become more and more precise with the way we treat and care for our patients based on the genetic characteristics of their cancer.”
“Documentation [is] not very exciting, or very fun, but [is] really crucial in terms of the patient’s present and future treatment,” she added.
Daly, a nurse practitioner in medical oncology at Siteman Cancer Center at Washington University School of Medicine in St Louis, recently presented a Precision Medicine Primer and Case-Based Workshop as part of the nursing track at the 40th Annual Miami Breast Cancer Conference®.
As part of her presentation, she underscored the importance of properly documenting the results from both genetic and genomic testing, noting that knowing where and how to access this information in the electronic medical or clinical record is crucial as it makes it easy for other providers and the patients to find and use this information.
Further, she noted that some testing results may become more relevant in the future, as patients need a documented variant or test for several targeted therapies, even those that may be approved by the FDA at a later time in a patients’ treatment trajectory. Select drugs may also be denied insurance coverage if patient’s do not have companion testing results. For this reason, Daly encourages patients to also scan or take photos of their testing results and email it to themselves or a trusted family member.
Daly recounted the top takeaways from her presentation in an interview following the presentation.
Oncology Nursing News: What do pathogenic variants mean for oncology nurses and when should patients with breast cancer be tested for biomarkers?
Daly: Part of it is just using the correct terminal terminology. More and more patients are getting genomic reports. A pathogenic variant means [a variant] that causes disease. In oncology, we’re talking about cancer, so you can have different variants. Some of them are of uncertain significance.
So, understanding what a pathogenic variant is, and helping a patient who is looking at a confusing genomic report, helping them to understand what that means, [and] what the language means [is how nurses can bring this into their practice].
[Patients should be tested] at every stage.
I think that’s something that isn't always known. People think it’s a ‘one-and-done,’ but there are different kinds of biomarkers we might want to test for at various stages throughout treatment. Obviously, we want to test for biomarkers routinely at the time of diagnosis and prior to curative therapy.
When patients have recurrent or metastatic disease, we want to do testing. Sometimes, even after they’ve already been on therapy, variants can emerge that may not have been there. Things can change, even within the same cancer in the same patient. The main message I want to get across to oncology nurses is that it is not a one-and-done.
The exciting thing is that testing is getting less expensive. Testing is also getting more specific. We have tests for more variants, and we have more information about those variants.
Please explain the difference between somatic and germline variants.
The majority of biomarkers that we are going to be testing for are somatic. It comes from the words soma or body. Somatic [variants] are changes that have occurred in the body after conception. Those are not inheritable. When we’re talking about somatic variants, we’re talking about what’s present in the cancer.1,2
The variants in the cancer germline are variants that have occurred in the germ cell, sperm, and egg and those are inherited, so those can be passed to offspring. People are often surprised to know that only approximately 5% to 10% of cancers are caused by germline or inherited variants. I was surprised by that when I first found that out. But they’re still important.
In breast cancer, we do have patients who have BRCA-positive cancer, but it’s not germline. That means it can’t be passed on to their children and their descendants. That’s important to know. You can understand how a patient might find that very confusing or be worried if we’re [to say], ‘You have this [variant], and we have this therapy.’ Patients, by and large, aren’t going to know the difference between germline and somatic.
Can you discuss the importance of documentation? How can nurses help ensure that their patients records are being saved and filed correctly following testing?
Documentation is never anyone’s favorite part of the job, right? No one has ever said, ‘Wow, I just love doing the documentation.’ But it’s very important to make sure that patients’ genomic testing results are documented in the chart consistently and in a way that everyone on the treatment team can access [them]. Not just for today; sometimes patients have curative therapy and years later, unfortunately, need therapy for recurrent or metastatic disease. At that point is it still] very important to know the results of those tests. If they are not clearly documented in a way that people can find, then that may delay or affect their treatment or result in unnecessary testing, or retesting. So, finding a way at your institution, or in your own personal practice, to consistently mark down that information in the patient’s chart [is important].
The hard thing is to make sure that it’s accessible—that anybody on that treatment team who needs that information can get to that and so that if that patient moves and we send medical records, their next treatment team will also be able to find that information.
1. Genetics vs. genomics fact sheet. National Human Genome Research Institute. Updated September 17, 2018. Accessed March 31, 2023. https://www.genome.gov/about-genomics/fact-sheets/
2. Mahon SM. Germline and somatic variants: what is the difference? ONS Voice. January 14, 2020. Accessed March 31, 2023. https://voice.ons.org/news-and-views/