Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

L Kasak; K Lillepea; L Nagirnaja; KI Aston; PN Schlegel; J Gonçalves; F Carvalho; D Moreno-Mendoza; K Almstrup; ML Eisenberg; KA Jarvi; MK O'Bryan; AM Lopes; DF Conrad; M Punab; M Laan

Journal article

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

L Kasak, K Lillepea, L Nagirnaja, KI Aston, PN Schlegel, J Gonçalves, F Carvalho, D Moreno-Mendoza, K Almstrup, ML Eisenberg, KA Jarvi, MK O'Bryan, AM Lopes, DF Conrad, M Punab, M Laan

Human Reproduction | OXFORD UNIV PRESS | Published : 2022

DOI: 10.1093/humrep/deac100

Abstract

STUDY QUESTION: What is the load, distribution and added clinical value of secondary findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive azoospermia (NOA)? SUMMARY ANSWER: One in 28 NOA cases carried an identifiable, medically actionable SF. WHAT IS KNOWN ALREADY: In addition to molecular diagnostics, ES allows assessment of clinically actionable disease-related gene variants that are not connected to the patient's primary diagnosis, but the knowledge of which may allow the prevention, delay or amelioration of late-onset monogenic conditions. Data on SFs in specific clinical patient groups, including reproductive failure, are currently limited. STUDY DESIGN, S..

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University of Melbourne Researchers

Moira O'Bryan Author

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Grants

Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development

Funding Acknowledgements

This work was supported by Estonian Research Council grants IUT3412 and PRG1021 (M.L. and M.P.); National Institutes of Health of the United States of America grant R01HD078641 (D.F.C., K.I.A. and P.N.S.); National Institutes of Health of the United States of America grant P50HD096723 (D.F.C. and P.N.S.); National Health and Medical Research Council of Australia grant APP1120356 (M.K.O'B., D.F.C. and K.I.A.); Fundacao para a Ciencia e a Tecnologia (FCT)/Ministerio da Ciencia, Tecnologia e Inovacao grant POCI-01-0145-FEDER-007274 (A.M.L., F.C. and J.G.) and FCT: IF/01262/2014 (A.M.L.). J.G. was partially funded by FCT/Ministerio da Ciencia, Tecnologia e Ensino Superior (MCTES), through the Centre for Toxicogenomics and Human Health-ToxOmics (grants UID/BIM/00009/2016 and UIDB/00009/2020).