RESUMO
Background After the completion of the Human Genome Project in 2003, the impact of genetic variations among people on human health was better understood. Precision medicine, also called 4P (Predictive, Preventive, Personalized, Participatory) medicine, is used to determine personal health risks, prevent, diagnose, and treat chronic diseases, and aims to identify the phenotypic, genotypic, and environmental factors that affect individual health risks instead of applying the same approach to everyone. Methods The study was conducted with 24 patients aged between 7 and 57. The patient group was selected from individuals who had undergone genetic and microbiota testing at Epigenetic Coaching Company. The patients' age, gender, and health status were documented. Genomic analysis of buccal samples was subsequently conducted using a custom Infinium HTS iSelect microarray on an Illumina iScan instrument, and microbiota metagenome analysis was performed using an Illumina NextSeq 500 platform. This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Biruni University Molecular Biology and Genetics Ethics Committee, with the decision number 2023/78-03. Results The genotypes of 19 cases carrying genetic variants involved in the metabolism of Vitamin D, Folate, B12, and Choline were analyzed. Eight of the cases were included in our study as autism patients, eight as allergy patients, and three as autoimmune thyroiditis patients. The Vitamin D receptor (VDR) genetic variants and microbiota diversity (using the Firmicutes/Bacteroides ratio, an indicator of dysbiosis) of 11 cases (9 allergy and two autism patients) participating in the study were evaluated together. Conclusions Translating nutrigenetic and nutrigenomic research into multidisciplinary clinical practice is the most challenging aspect. It is now evident that integrating data regarding phenotype and genotype, and using nutrition, lifestyle, and supplements tailored to an individual's genetics can increase clinical success. Importantly, if we wish to adopt an epigenomic approach, we must incorporate analyses of nutrigenetics, microbiota, and personalized risk based on test results.