Preconception genetic risk Mmanagement through personalized preventive medicine

Abstract

The preconception period is critical for preventing genetic diseases, congenital anomalies, and neurodevelopmental disorders. Early identification of genetic risk allows effective interventions before pregnancy, optimizing the couple’s health and enabling informed reproductive decisions. Community genetics, integrated with primary health care and the principles of personalized medicine, supports a proactive, predictive, and preventive approach centered on the individual, the family, and the community. Risk assessment includes family history, consanguinity, reproductive age, chronic diseases, and environmental exposures, using tools such as structured anamnesis and pedigree analysis. Personalized medicine enhances risk stratification and the selection of interventions tailored to each couple, including carrier screening and preventive measures such as folic acid supplementation and management of maternal conditions. Primary health care provides the ideal setting to implement these strategies, promoting prevention, equity, and ethical, informed reproductive decision-making.