Author ORCID Identifier

Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Sarah A Bannon, MS

Committee Member

Courtney D DiNardo, MD, MSCE

Committee Member

Laura S Farach, MD, FACMG

Committee Member

Samuel Hyde, MMSc

Committee Member

Chelsea Wagner, MS


Since 2003, more than 15 genes have been identified to predispose to hereditary hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for prognostication, treatment, and donor selection for hematopoietic stem cell transplant. No studies have examined leukemia patients’ attitudes toward genetic testing for HHM. This study aimed to assess leukemia patients’ attitudes toward genetic testing and elicit current perceived distress due to a leukemia diagnosis. Data were elicited through an electronic survey sent to 5,513 patients diagnosed with a common acute or chronic leukemia, myelodysplastic syndrome, or aplastic anemia. Principal component analysis (PCA) was used to analyze patient attitudes; distress was measured through the Impact of Event Scale-Revised (IES-R). Associations of distress and attitudes toward genetic testing were assessed through multivariable regression analysis. 19.8% (1093/5513) of eligible respondents completed the survey. The majority reported interest in genetic testing for HHM (77%) and would choose to have genetic testing (78%). Slightly over half identified worry about cost (58%) or health insurance coverage (61%) of genetic testing as possible barriers. PCA analysis produced seven components regarding patient attitudes, identifying relevant themes of 1) interest in genetic testing for HHM, 2) impact on leukemia treatment, 3) discrimination and confidentiality, 4) psychosocial and familial impacts, and 5) cost of testing. The majority reported low distress with a median cumulative IES-R score of 7 (range 0-86). Furthermore, 18.5% (202/1093) of respondents reported a cumulative score of zero, indicating no distress. This large cohort of leukemia patients at various stages of treatment report overwhelming interest in genetic testing, concern about few barriers related to genetic testing, and relatively low distress due to a leukemia diagnosis.


genetic counseling, genetic testing, leukemia, hematologic malignancy, hereditary, inherited, survey, distress



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