Master of Science, The Ohio State University, 2022, Genetic Counseling

Acute Myeloid Leukemia (AML) affects approximately 3,200 adolescents and young adults (AYA's) annually, a population with unique challenges given their age at diagnosis. Clinicians are becoming increasingly aware that underlying germline mutations in cancer susceptibility genes contribute to familial MDS/AML. Referral for germline testing is contingent on personal or family history, suspicious findings on somatic tumor testing, or a combination of these. Identification of germline mutations may direct treatment or therapies, inform screening or surveillance, and could initiate cascade testing for at-risk family members. Discovery of MDS/AML predisposition genes began in 1999 and proposed referral guidelines for germline assessment were published by experts in 2013. In 2015, somatic sequencing was universally implemented for all AML patients at the Ohio State University (OSU) James Cancer Center. Despite available referral guidelines, knowledge of familial MDS/AML, and cancer genetic counseling services at OSU, patients at the Ohio State University were largely not referred to genetic counseling for discussion of germline testing. Additionally, AYA AML patient somatic and cytogenetic landscapes at OSU are reflective of those reported so far in the literature, findings that contribute to burgeoning research that AYA AML is biologically distinct from AML in children and adults.

Committee: Julia Cooper MS CGC (Advisor); Bhavana Bhatnagar DO (Committee Member); Ann-Kathrin Eisfeld MD (Committee Member) Subjects: Genetics; Health Care; Oncology