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Spectrum of secondary findings in the DNA samples from the NMRC TPM biobank
https://doi.org/10.25557/2073-7998.2025.06.37-39
Abstract
Identification of pathogenic genome variants not associated with the referral diagnosis for DNA diagnostics (secondary findings, SFs) allows diagnosing monogenic diseases before they manifest and starting preventive treatment in such patients. The aim of this study was to assess the occurrence of pathogenic variants in clinically significant genes recommended for testing by international guidelines in a cohort of individuals from the NMRC TPM biobank. The study included 4170 persons who underwent DNA diagnostics of hereditary diseases at the NMRC TPM. DNA sequencing was performed on the Illumina platform. 86 SFs were identified in 26 recommended genes in 126 (3%) patients. The procedure for reporting SFs to the carriers and further tactics for managing such patients are currently being developed.
About the Authors
A. A. Bukaeva
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
M. Zaicenoka
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
A. I. Ershova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
O. D. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101990
References
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Review
For citations:
Bukaeva A.A., Zaicenoka M., Kiseleva A.V., Ershova A.I., Drapkina O.D., Meshkov A.N. Spectrum of secondary findings in the DNA samples from the NMRC TPM biobank. Medical Genetics. 2025;24(6):37-39. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.37-39
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