Abstract
In an era of rapidly advancing medical technologies, personalized diagnostics offer promising opportunities for improving disease prevention and management. This study explores patient preferences and systemic readiness for the implementation of individualized diagnostic approaches, with a focus on hereditary colorectal cancer.Methods. A pilot genetic testing project integrated with questionnaire-based assessment was conducted among 113 participants from the general population. A panel of 184 single nucleotide polymorphisms associated with colorectal cancer susceptibility was analyzed.Results. Among 113 respondents, only 3.5% had in-depth knowledge of personalized diagnostics, with accuracy, affordability, and accessibility cited as key factors. The majority of users were women aged 36–45, mostly from Almaty and Karaganda. While 71.4% were open to online consultations, cost remained a barrier—50% were willing to pay over 20.000 KZT. Among 133 professionals, only 8.7% had strong expertise, and just 17.4% used such diagnostics in practice, though 62.3% saw their high potential.Four genetic polymorphisms were significantly associated with colorectal cancer susceptibility within the analyzed cohort. The rs4779584 (T/T) and rs16892766 (C/C) genotypes increased the risk by 1.7-and 4-fold, respectively. Conclusions. Personalized diagnostics have the potential to completely transform how diseases are managed and prevented. However, to enable them widespread acceptance, it is essential to overcome obstacles related to economics and education. When it comes to guaranteeing the sustainable expansion and accessibility of customized medicine, it is vital to take a comprehensive and integrative strategy that combines education, affordability, and regulatory support.Keywords:personalized diagnostics, genetic markers, colorectal cancer, healthcare accessibility, medical marketing strategies.