As genetics professionals, we are continuously advocating for the integration of genetic services into clinical specialties, such as oncology or cardiology, where patients greatly benefit from these services. Genetic counselors continual work to expand these benefits to other specialties to reach as many patients as possible. However, there are many areas of health care that lack access to genetics services, which could have tremendous impact on patient health outcomes.
In this featured article, Kelsie Bogyo, MS, CGC; Natalie Vena, MS, CGC; and their committee demonstrate the utility of genetic services within an adult nephrology clinic. Their work illustrates the many variables involved in implementing a successful kidney genetics clinic. The model focuses on genetic counselors working collaboratively with nephrologists to reduce barriers to genetic counseling services. One of the elements contributing to their success was the integration of a multidisciplinary team; Vena states that this provided patients with, “personalized, comprehensive care that addresses their unique needs.” Additional key aspects of this model included: offering multiple appointment types, short wait times, options for telemedicine visits, multiple points of entry into the clinic workflow, and allowing various providers to order genetic testing along with the support of genetic counseling services. This study attributes its success to strong interdepartmental collaboration which facilitated referrals and identification of patients most likely to benefit from a kidney genetics clinic visit. Additionally, providers were involved in many efforts to increase the recognition of appropriate patients, such as educational initiatives, case series, and seminars.
Although previous research surrounding genetics services within adult nephrology has had limited data, Bogyo and Vena’s clinic had a high referral rate resulting in a greater diagnostic yield, that further supported the need for this clinic. Their research illustrates the many benefits of genetics services within the nephrology space including, establishing a genetic diagnosis, treatment eligibility and approval by insurance, referrals to other specialists, understanding risk to family members, identification of eligible donors for kidney transplantation, and clinical trial eligibility. After several years of collecting data, the authors felt it was important to publish their work and advocate for genetic services in this relatively new field.
Currently, Bogyo and Vena work at Columbia University in the Division of Nephrology. Bogyo’s role is multilayered and includes a mix of clinical work, research, and education. She graduated from Icahn School of Medicine at Mount Sinai in 2019. Vena’s position also includes clinical work and education but is primarily focused on clinical research. She graduated from Boston University in 2012. They remain actively involved in ongoing research to build upon their initial study, Vena states that she “feels that contributing our experiences to the literature helps grow our professional community.” Their current research investigates access issues, patient outcomes, and the perceived and clinical benefits of genetic testing of both patients and clinical providers.
Lastly, Bogyo and Vena pursued research in a setting where they were already actively and passionately involved. Bogyo recommends that students and professionals in genetic counseling pursue topics that excite them and then connect with others who are interested in that topic. Vena also suggests finding a good mentor who can provide guidance, support, and constructive feedback. It’s crucial to foster connections with those who are involved in work that we are passionate about, Bogyo states, “much of our research comes out of questions and conversations that we have about our clinical work.” The authors hope that their work inspires others to advocate for a genetics clinic model in their own specialties, so that more patients have access to genetics services.
Bogyo, K., Vena, N., May, H., Rasouly, H. M., Marasa, M., Sanna-Cherchi, S., Kiryluk, K., Nestor, J., & Gharavi, A. (2022). Incorporating genetics services into adult kidney disease care. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 1-13. DOI: 10.1002/ajmg.c.32004
|Natalie Vena, MS, CGC
||Kelsie Bogyo, MS, CGC