As we learn more about genomics and identify more genes tied to rare disorders, the role of genetic counselors will become even more critical.
As a community, we can get engaged and work together to fill in the education and access gaps to better serve patients with rare diseases.
With more genetic-based medicines on the horizon, it is more critical than ever to ensure swift and accurate diagnoses for patients who likely have a rare disorder. In many cases, it can take more than a year to receive a correct diagnosis—or worse—never get one at all. That's where Indiana University and IU Health's Undiagnosed Rare Disease Clinic (URDC) comes in.
The URDC seeks to connect patients with a team of geneticists and genetic counselors who pour over reams of data and test results in an effort to ultimately deliver a diagnosis. If successful, the clinic's staff can help connect the patient to appropriate specialists and clinical trials.
"Our role as genetic counselors is to provide psychosocial support and educate families about the importance of identifying a diagnosis for their medical decision-making," Vinaya Murthy, MS, MPH, assistant professor of clinical medical and molecular genetics at Indiana University, and a genetic counselor at IU Health, told CGTLive. "If we have a diagnosis, we can help them by discussing symptoms associated with the condition, timeline for presentation, treatment options, and how this may impact their family."
To learn more about the URDC and how it hopes to empower community providers to provide the best possible care, CGTLive sat down with Murthy at the 2022 NORD Breakthrough Summit in Washington, DC.
For more coverage of NORD Breakthrough Summit 2022, click here.