Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study

Hereditary hematological malignancy syndromes (HHMS) are more common than previously thought, and identification of an HHMS syndrome can inform the choice of treatments, transplant, and testing of other family members. Genetic testing guidelines for hematological malignancy have broadened; however, there remain a multitude of barriers and complexities with germline genetic testing for these patients. Here, we describe a process for the evaluation and testing of patients for HHMS as well as our respective findings.

Adult patients with a new diagnosis or history of myeloid malignancy and referred for genetic counseling from 2020 to 2023 within a single institution were reviewed. Descriptive statistics were performed, and frequency data was gathered for relevant patients.

A total of forty-nine patients were evaluated by a genetic counselor based on their myeloid malignancy; forty-three patients underwent genetic testing. Genetic testing revealed an HHMS for six patients, with two additional patients found to have abnormalities on ancillary testing that could not be genetically characterized. Thirty-five patients met NCCN age-based criteria for genetic testing; however, this was not mutually exclusive with those diagnosed with HHMS. Inpatient genetic counseling had a median timeline of 53 days from referral to result (range: 32-56.75 days). Outpatient genetic counseling had a median timeline of 96 days from referral to result (range: 64-144 days).

Our proposed process demonstrates an efficient structure for patients with hematological malignancy while supporting the importance of the genetic counselor within the malignant hematology and stem cell transplant teams.