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Evaluation of Somatic Genetic Testing as a Screening Tool to Detect Hereditary Cancer Predisposition in Patients Diagnosed with Myeloid Malignancies


A referral to genetic counseling is commonly made for patients with many types of cancer, given that cancers are hereditary in 5-10% of cases (National Institutes of Health, 2017). However, patients with myeloid malignancies are not often provided with genetic services despite emerging evidence that these cancers are hereditary about 13% of the time (Yang et al., 2022). This study explored the use of somatic genetic testing as a screening tool for hereditary cancer predisposition in patients diagnosed with myeloid malignancies, in the hopes of providing more evidence that this is an appropriate way to identify patients in need of genetics services. The study involved 110 participants whose medical records and somatic genetic test results were analyzed for criteria that indicate a need for genetic counseling and germline genetic testing. Furthermore, this study investigated the current landscape of genetics professionals’ involvement in the care of patients with myeloid malignancies at a single institution. Results from this study showed that 62 out of 110 patients (56%) met criteria for germline genetic testing to assess hereditary cancer risk based on the National Comprehensive Cancer Network 2023 guidelines for AML/MDS and the 2022 European LeukemiaNet guidelines (Döhner et al., 2022; National Comprehensive Cancer Network, 2023). However, none were referred for genetics services on the basis of their diagnosis of myeloid malignancy. Additionally, of those 62 patients, 9 (15%) would not have met those criteria without considering the results of their somatic genetic testing, all of which included genetic variants that could be germline in origin, and as such, would be clinically relevant. This indicates a need for greater awareness among providers (hematologic oncologists, genetic counselors, molecular pathologists, and molecular geneticists) concerning the current recommendations for germline genetic testing for patients with myeloid malignancies and somatic genetic testing. The findings of this study show that utilization of somatic genetic test results is merited as a resource and screening tool for determining whether a patient should receive genetic counseling and consideration of genetic testing.

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