In my professional career, I have been working in the field of rare and complex human disease genetics. I have been mostly involved in the application of high-throughput sequencing approaches for clinical diagnostics and research.
Currently, my work is focused on diagnostics based on exome, genome and RNA sequencing. I am particularly enthusiastic about finding novel approaches to improve genome-level clinical variant interpretation, create resources of national variation and to increase use of data sharing to facilitate the diagnosis of rare genetic disorders. I am also interested in the application of novel computational approaches to improve the diagnosis and novel gene discovery.
Since 2002, I have been involved in various research projects in the fields of rare and complex genetic disorders, neurodegenerative disorders and immune disorders.
The power of small – how Slovenia used genomics to transform diagnosis of genetic diseases
Provision of quality genetic services within health systems in smaller countries remains a significant challenge. These challenges stem from the wide heterogeneity of genetic disorders, the underrepresentation of nation’s genetic data in international resources of pathogenic and population variability, and the reliance on expertise from centers abroad. In the past, these limitations have delayed diagnosis, restricted the potential for personalized management of rare disease patients, and consequently, negatively impacted care for individuals with genetic disorders.
In Slovenia, we have taken proactive steps to address these issues through the early implementation of genomics at the core of patient care. At the Clinical Institute of Genomic Medicine, we introduced exome and genome sequencing in 2013 as the primary diagnostic approach for patients with suspected rare genetic disorders.
By adopting exome- and genome-based diagnostics early on, we enabled timely diagnoses and resolution of previously undiagnosed cases. Furthermore, we have continually enhanced these approaches to address a wide spectrum of mutational mechanisms, increasing the feasibility of sequencing as a singular diagnostic tool for genetic disorders. We also perform consistent reanalysis and reinterpretation of exome data in undiagnosed patients and have successfully participated in match-making initiatives, leading to the identification of over 20 novel Mendelian disease genes.
Additionally, the implementation of genomic approaches has supported the development of national resources for pathogenic and population variability and catalyzed the launch of the Slovenian Genome Project. Insights gained from more than a decade of experience now guide the development of preventive genomics programs, improve the registration of rare disease patients, and continue to enhance diagnostic outcomes.
In conclusion, we demonstrate the transformative impact of genomics-based approaches on the national health system’s ability to provide improved care for patients with rare genetic disorders. In particular, these efforts have promoted efficient diagnostics through national capacity, facilitated the discovery of new disease mechanisms, and enabled the creation of valuable national genetic resources.