The founding of Sophgena was preceded by many years of individual experience across multiple sectors of healthcare, from serving as an investment analyst at a major Central European investment fund to founding and managing a healthcare group. We recognize that genetics will play an increasingly vital role in diagnosing and preventing both congenital and acquired diseases. This is no secret; even the proverbial “sparrows on the roof” are chirping about it. After all, numerous providers in our region already offer genetic tests, promising clients varying degrees of success in disease prevention and detection.

We put these services to the test ourselves. By comparing their results with our own samples—analyzed through our clinically relevant genome sequencing pipeline—we confirmed our suspicions: the reports showed numerous false positive and/or negative results. Simply put, these available services provided almost no tangible value, rendering them practically worthless. Even after a comprehensive review of the domestic market, we failed to find a product that could genuinely connect highly specialized genome sequencing with clinical interpretations by leading experts in the field and subsequent, multidisciplinary medical care. Additionally, it appears that no one fully leverages the possibilities of in-depth data analysis and artificial intelligence tools that enable, for example, the creation of clinically relevant variant databases tailored to specific “geographical latitudes.”