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

Area of Science:

• Hematology
• Genetics
• Oncology

Background:

• Hereditary hematological malignancy syndromes (HHMS) are more prevalent than previously recognized.
• Identifying HHMS impacts treatment decisions, transplant eligibility, and family screening.
• Barriers and complexities exist in germline genetic testing for hematological malignancy patients.

Purpose of the Study:

• To describe a structured process for evaluating and testing patients for HHMS.
• To report findings from genetic testing in patients with myeloid malignancies.
• To emphasize the role of genetic counselors in malignant hematology.

Main Methods:

• Review of adult patients with myeloid malignancy referred for genetic counseling (2020-2023).
• Descriptive statistics and frequency data collection.
• Evaluation and germline genetic testing for HHMS.

Main Results:

• Forty-nine patients evaluated; 43 underwent genetic testing.
• Six patients diagnosed with HHMS; two had uncharacterized genetic abnormalities.
• Median genetic counseling timelines: 53 days (inpatient), 96 days (outpatient).

Conclusions:

• The proposed process offers an efficient structure for HHMS evaluation in hematological malignancy patients.
• Genetic counselors are integral to malignant hematology and stem cell transplant teams.
• This approach supports timely diagnosis and informed clinical management.