As an Advanced Practice Registered Nurse (APRN) in Wichita, KS, I’ve spent the last 20 years dedicated to oncology care. I lost my sister-in-law to breast cancer at a young age—she was only 29 years old when she was diagnosed and passed away at the age of 36. I became particularly interested in inherited cancers because of my niece. I wanted to know: “Is she at risk for breast cancer, too?”  

And so, I started to see each of my patients as a puzzle: “What might we not be seeing? Can it be prevented? If not, can we catch it at the earliest stage possible?” Many young individuals want to know the possibility for their future—with hereditary cancer testing, I feel empowered to help them unlock these answers. 

Many of my patients live in areas of Kansas where there are a limited number of genetic counselors, presenting an educational opportunity to share the impact genetic testing can have in patients’ lives. I am a passionate advocate for genetic testing and the game-changer that is concurrent RNA/DNA testing. I’ve recently presented a poster on the topic at a state-wide conference, which allowed me to discuss the benefits of concurrent testing with practicing providers and medical students, which was very well received. 

Finding More Answers for Patients with +RNAinsight^®

My Genomic Science Liaison (GSL) at Ambry, Caitlin Reid, is knowledgeable and showed me the difference RNA can make in a patient’s results when it is run concurrently with DNA. And it just made sense to me. There are studies and literature to support it; plus, it doesn’t take any additional time and there’s little to no extra cost to the patient—so, why not? 

I’d like to share just a few examples where +RNAinsight has made a difference for my patients—where they’d be otherwise missed with a DNA-only or reflexive RNA approach. 

Patient #1 

• Patient: 40 y/o female
• Family history: she was adopted and had learned that her biological maternal grandmother was diagnosed with breast cancer at a fairly young age. She didn’t know any additional biological family history.
• Findings: +RNAinsight helped to find a likely pathogenic ATM mutation deep in the introns, which qualifies her for pancreatic cancer screenings beginning at age 50, as well as additional breast cancer screening, to include annual breast MRIs, off-setting her annual mammograms by six months. 

Patient #2 

• Patient: 26 y/o female 
• Family history: her mother was diagnosed with breast cancer at a young age 
• Findings: +RNAinsight helped to uncover her likely pathogenic BRIP1 mutation in which medical management guidelines recommend she consider removing her ovaries and fallopian tubes at age 45-50 to reduce risk. 

Offering Advice to Providers Assessing Hereditary Cancer Risk 

If a patient isn’t going to have genetic counseling, make sure you are educating them up-front on the potential results, and the implications it could have for screening and intervention recommendations—for them and their first-degree relatives, such as their children. Knowing the possibilities up-front helps them mentally prepare for potential findings.