Indications and Limitations of Genetic Testing in Common Adult Diseases
DOI:
https://doi.org/10.52692/1857-0011.2025.2-82.34Keywords:
common adult diseases, multifactorial, genetic risk, risk stratification, polygenic risk score, genetic counselingAbstract
Genetic testing for common adult diseases, such as chronic multifactorial conditions like type 2 diabetes, cardiovascular diseases, cancer, neurodegenerative disorders, and autoimmune diseases, enables individual risk assessment, early identification of predisposed individuals, and optimization of prevention or treatment strategies.Aim : To synthesize data on available genetic tests for major categories of common adult diseases, with relevant examples, indications, and limits. Materials and methods : We analyzed scientific literature published between 2015 and 2025, including narrative reviews, systematic reviews, observational studies, and clinical guidelines. Results: Genetic testing for common adult diseases primarily relies on polygenic risk scores (PRS), SNP genotyping, or targeted panels. Genetic testing is conducted within specialized genetic consultations and is recommended in specific clinical contexts: early disease onset (e.g., cancer before age 50), positive family history across multiple generations, atypical clinical presentations, therapeutic indications (e.g., pharmacogenomics), and reproductive counseling. In each case, genetic testing has specific indications and limitations. Limitations arise from incomplete gene penetrance, meaning not all individuals with a pathogenic variant develop the disease; no single genetic mutation fully determines risk; and variability in gene expression, where individuals with the same mutation may exhibit different clinical forms. Epigenetic and environmental factors also influence risk. Conclusions:Common adult diseases result from complex interactions between genes, epigenetics, and the environment.Genetic tests offer opportunities for prevention, diagnosis, and personalized treatment, with clinical utility varying by disease.The limitations of genetic testing stem from the etiological complexity of multifactorial diseases, requiring genetic counseling for result interpretation and communication.
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