Impact of Pretreatment Genetic Variations on Symptoms in Colorectal Cancer Patients

In this video Kristen Fessele, PhD, RN, AOCN, a post-doctoral research fellow at the University of Utah College of Nursing, discusses a study which examined genetic factors that affected the symptom experience of patients being treated with chemotherapy.

Please note: Due to technical difficulties with the audio during the shooting of this video, we’ve provided a transcript of the discussion below.

My name is Kristen Fessele, I’m a post-doctoral research fellow at the University of Utah College of Nursing. My clinical interest is looking at particulars of severe symptoms and toxicity for patients who are receiving chemotherapy. This comes from my background as an oncology nurse and as a nurse practitioner administering chemotherapy to patients and realizing that some of them had more severe symptoms than the norm. My doctoral work has focused on looking at demographic, clinical, and now genetic factors that may help us, as nurses, understand before we treat patients, who’s going to get into trouble.

So my work presented here in this poster is an integrated work looking at genetic factors associated with patients receiving chemotherapy for colorectal cancer who have genetic polymorphisms or variants, and we might be able to find them, pretreatment, and predict the risk of severe neutropenia, diarrhea, and other factors.

I took a look at the literature from the year 2000 to about 2015, and I chose that date range because that was when the literature began to emerge. I worked with a medical librarian at the University of Utah-interdisciplinary collaboration is very, very valuable. The search terms that I used tended to be a little more broad than I needed, because I got a lot of molecular treatment profiling data in there that I had to then extract out.

My original search through CINAHL, Academic Search Premiere, and PsycINFO-which included MEDLINE and PubMed-brought me over 2,000 citations, which I whittled down to about 1,400, and then had to hand review those to figure out which ones were primarily related to symptoms and not necessarily response. I was really looking at genetic and symptom response.

What I found is there are a key group of genes that have multiple variants or polymorphisms within them that were significantly associated with toxicities such as diarrhea, neutropenia, mucositis, fatigue, and hypersensitivity to pain.

What I did end up finding was that variants are rare-so for those patients who have them they do have extreme reactions, but because variants are so rare there may not be a prospective screening test that we could use on all patients, but what I really hope and what I think is coming clinically is that we’re going to be genomic screening everybody when they walk in the door, because there’s so many applications of that information for clinical treatment profiling to treat the cancer, and pharmacogenetics for all sorts of medication matches that we’re going to be giving.

If nurses can become conversant in this literature and know what factors to look for, and that information is readily available, eventually, for our patients we will be able to say, “Oh, this patient has the SNP that predicts for high diarrhea, so I’m going to put that patient on the high anti-diarrhea protocol before they even start their treatment,” and it will be really interesting to see what difference that makes to keep patients from having treatment interruptions and ending up at the hospital or to be really miserable with these symptoms.

And that’s something nurses will be able to embrace. We have to start early to identify factors to look at. But also nurses have to get comfortable with this literature and these results. So I’m really proud to be doing this work so I can bring that out to a nursing audience.