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Training Genetic Mutation Reporting Process for Transplant Centers

December 7, 2022


As of Jan. 30, 2023, the NMDP is implementing a protocol consent change and introducing a standardized way to report genetic mutations detected in donor-derived cells

Historically, the process to report findings has not been outlined and occurs on a case-by-case basis. By standardizing this reporting process, NMDP will be able to

  • Respond to the results of next-generation sequencing technology for disease surveillance
  • Notify donors about the process
  • Have donors opt in at workup if they want to be notified about genetic changes of unknown significance

The NMDP Transplant Medical Services team will notify donors, regardless of opt in status, of any/all medically actionable genetic changes with known significance

Genetic mutations may be identified during post-donation marrow and/or peripheral blood genetic testing. In such cases, the transplant center is expected to report any genetic mutations found in their recipients that may be donor-derived back to the NMDP. Transplant centers will submit findings through FormsNet3 via an intake form

In this training, your center will be provided with an overview of the process and how to fill out the intake form. There is also a Q&A to follow.

Learning Objectives 

  • Why this reporting process for genetic mutations is being implemented
  • An overview of the reporting process
  • How to report on genetic mutations via the intake form

Target Audience 

Coordinators at transplant centers


  • Heather Stefanski, MD, PhD, Vice President, Transplant Medical Services, NMDP
  • Meghann Cody, DNP, APRN, NP-C, Nurse Practitioner & Senior Manager, Medical Quality, Transplant Medical Services, NMDP
  • Ruth Bakken, Senior Nurse Coordinator, NMDP
  • Jason Oakes, PA-C, Transplant Medical Services, NMDP
  • Anna DeSalvo, MS, CGC, PLY, Practice Implementation Principal, Patient Services, NMDP