Reyes KG, Clark C, Gerhart M, Newson AJ, Ormond KE. "I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants. Familial Cancer (2021). PMID: 33855648
Many patients seek clinical genetic testing searching for answers. As we know, some patients don’t get answers. Instead, they are handed results that beg more questions. This is happening more often now that broad gene panels and whole exome/genome sequencing are becoming the norm. This can happen even when a clearly pathogenic variant is identified, but in a gene with moderate disease risk association(s). As is the case for ATM and/or CHEK2 pathogenic variants, exact cancer risks are still being refined, and cancer risk management strategies continue to evolve.
In the featured article, Kathryn Reyes and her research committee do not shy away from asking carriers of ATM and/or CHEK2 variants how they felt about the uncertainty of the results and risk management recommendations they were provided. In fact, they dedicated the research in the featured article to gaining insight into the experiences of patients with ATM and CHEK2 pathogenic variants. One participant excerpt from the featured article poignantly illustrates the uncertainty faced with managing her cancer risk:
And then the doctor recommended or suggested I take one or two drugs to inhibit potential breast cancer, but it wasn’t like: ‘you should take it’. It was just like: ‘we have this, you could take this’. And so that wasn’t helpful. I mean it was and it wasn’t helpful. Oh, there’s something there, but oh, should I take it? I don’t know. (65yo F, ATM+)
Kathryn collected the data published in the featured article as part of her master’s program in human genetics and genetic counseling research project at Stanford University. She states, “My main motivation in publishing our work comes from my desire to ensure patients feel empowered by their genetic test results and feel confident in using their results to navigate their healthcare.”
Kathryn followed her passion for cancer genetics. She is now a clinical cancer genetic counselor at Cedars-Sinai Medical Center in Los Angeles and has been there for just over one year. She stated, “It’s been exciting to see my work on this project come full circle, since now I meet with my own patients who are ATM and/or CHEK2 positive, and I try to keep the perspective of the individuals from our study in mind when counseling them.” She keeps her finger on the research pulse by reviewing journal articles for Journal of Community Genetics and speaking with current genetic counseling students at UC Irvine and Keck Graduate Institute, helping them brainstorm research project ideas. She added that she looks forward to working on other projects examining patient experiences of undergoing multigene panel testing and taking the research from the featured article further.
For those genetic counselors interested in contributing to research in our field, Kathryn offers some suggestions: “In addition to reflecting on questions about the genetic counseling field that you often find yourself wondering [about], reach out to other genetic counselors and other clinicians to get their insight and see what resources they may have to share.” She also recommends reaching out beyond colleagues at your own workplaces and graduate programs to find people who have published on similar topics to your interest area and who may provide invaluable resources.