Student Rotation: Undiagnosed Diseases Network

For my optional rotation, I had the pleasure of shadowing research genetic counselor, Rebecca Signer, at the UCLA clinical site of the Undiagnosed Diseases Network. The Undiagnosed Diseases Network (UDN) is a national research study supported by the National Institute of Health, with a dozen clinical sites, a sequencing core, metabolomics cores, and model organisms screening center. The goal of the study is to help individuals and families living with rare diseases to find a diagnosis and better understand the genetic etiology of rare diseases.

At the UDN, I had the opportunity to observe and experience the day-to-day work of a research genetic counselor. This included reviewing incoming applications to determine suitability for participation in the UDN, reviewing the medical records of accepted participants to create patient notes, entering data into a research database, practicing variant interpretation, and observing the behind-the-scenes coordination of a research study as massive as the UDN. I also was able to create a resource pamphlet for UDN patients as well as a handout for post-visit expectations.

Because the UDN is partly a clinical study, being a research genetic counselor is a unique position that involves balancing the patient-facing role of a clinical genetic counselor with the organization and analytical role of a study coordinator. A genetic counselor can apply a great deal of their own training into being a study coordinator: an expertise in genetics, an ability to translate study results to experts and a lay audience, and advanced psychosocial skills for interacting with the research participants. 

In fact, the population of the patients participating in the UDN often results in unique, intense psychosocial dynamics. The individuals and families involved in the UDN are people who often spent years living with life-disrupting symptoms and searching for a diagnosis. About 40% of participants in the UDN eventually receive a diagnosis. In addition, the process for finding that diagnosis can take even more years. After hearing a diagnosis, it can be a massive relief to finally have an answer, or it can be something that they are not quite ready to accept. Regardless, even when a family’s diagnostic odyssey ends, it is often the start to a new journey in managing the condition. Every individual and family has a different reaction and a genetic counselor in the role of a study coordinator is uniquely qualified to help them through the process.

My three weeks at the UDN were an interesting and wonderful learning experience. It was a bit out of my comfort zone, but I greatly appreciated the chance to learn more about being in a research genetic counseling role. It has also helped me re-evaluate how I envision my own career as a genetic counselor. Thank you again to Rebecca Signer, Naghmeh Dorrani, the UDN team, and the UCLA pediatric genetic counselors for welcoming me to their site!

Pooja Solanki, class of 2020