Vinaya Murthy, MS, MPH, on Genetic Counseling Services for Rare Disorders


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.

Related Videos
Omar Nadeem, MD, on Initial Efficacy of GPRC5D-CAR in R/R Multiple Myeloma
Omer A. Abdul Hamid, MD, on Improving Gene Therapy’s Effect and Accessibility
George Tachas, PhD, on Tackling DMD Treatment From Multiple Angles
David Suhy, PhD, the cofounder and chief scientific officer of Earli
Deepak L. Bhatt, MD, MPH, MBA, on Incorporating AI into Genetic Research for Cardiovascular Disease
Jeffrey Chamberlain, PhD, on Helping Progress Cell and Gene Therapy Development
Jonathan W. Weinsaft, MD, on Integrating Genetic Research into Cardiovascular Medicine
Jacques Galipeau, MD, on Highlights from ISCT 2024’s Presidential Plenary
Vanee Pho, PhD, the senior director of product management, cell and gene therapy, at Mission Bio
Michael Wang, MD, a professor in the Department of Lymphoma/Myeloma at MD Anderson Cancer Center
© 2024 MJH Life Sciences

All rights reserved.