Balkan Journal of Medical Genetics

VALUE OF OPTICAL GENOME MAPPING (OGM) FOR DIAGNOSTICS OF RARE DISEASES: A FAMILY CASE REPORT
Kovanda A1,2, Miljanović O3, Lovrečić L1,2, Maver A1,2, Hodžić A1,2, Peterlin B1,2,*
*Corresponding Author: *Corresponding Author: Prof. Borut Peterlin, Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia. borut.peterlin@kclj.si
page: 87

INTRODUCTION

Optical genome mapping (OGM) is a novel technol- ogy enabling the detection of structural genomic vari- ants (SV) at a resolution and in size range previously not readily available by other methods, opening new fields of research1,2. In human diagnostics, OGM has so far been applied to cancer genetics / haematology3–6, constitutional molecular genetics1,2, quality control assurance in genome modification (such as detection of off-target effects in genetically modified cell lines)7, and in routine clinical genomic diagnostics of facioscapulohumeral dystrophy (FSHD)8–11. OGM has been in use at the Clinical Institute of Genomic Medicine (CIGM), University Medical Cen- tre Ljubljana (UMCL), Slovenia since 2021 for research and diagnostic purposes. Our research focus (ARIS Pro- gramme P3-0326) involves discovering mechanisms of unexplained recurrent spontaneous pregnancy loss, male infertility, and integration and co-interpretation of whole genome sequencing (WGS) and OGM data (ARIS Pro- gramme J3-4517). The planned integration of OGM data with WGS will hopefully further increase the yield of diagnostics in such cases. In routine genetic diagnostics at CIGM, OGM is currently used for diagnostic testing of FSHD11, characterization and resolution of variants identified by other technologies, and undiagnosed rare disease patients. In this way, we have so far successfully used OGM to characterize variants identified by other technologies, such as microarray, NGS, and karyotyping, to resolve the clinical significance of various SVs12. Herein, we present a family case report of rare dis- ease patients tested using OGM that was performed in collaboration with the Center for Medical Genetics and Immunology (CMGI), Clinical Center of Montenegro (CCM) (BI-ME/21-22-016). In addition to the challenges faced in interpretation of SVs based on strictly applied ACMG criteria and ClinGen guidelines, our work serves to highlight the complexity of the diagnostic journey in rare disease cases.

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