THE CONTRİBUTİON OF GENETİC TESTİNG TO MEDİCİNE - THE EXPERİENCE OF GEORGİA

Since the completion of the Human Genome Project, remarkable advances have been made in understanding the human genome's contribution to health and disease; the wealth of scientific discovery generated over the past 10 years is unparalleled in the history of biomedicine, and the rate of discovery is accelerating [1]. The traditional study of single gene disorders (genetic medicine) has developed into an understanding of how multiple genes interact with environmental factors: genomics [2].

Personalized medicine is health care that tailors interventions to individual variation in risk and treatment response. Although medicine has long strived to achieve this goal, advances in genomics promise to facilitate this process. Relevant to present-day practice is the use of genomic information to classify individuals according to disease susceptibility or expected responsiveness to a pharmacologic treatment and to provide targeted interventions. [3]

Inherited thrombophilia is a genetic disorder of blood coagulation resulting in a hypercoagulable state, which has been suggested as a possible cause of recurrent thromboembolism. Family and twin studies have established a heritable component to venous and arterial thrombosis. For the vast majority of patients, thrombosis is a complex, multifactorial disease caused by a combination of numerous, often unknown, environmental and genetic factors [4]. Since the placenta is rich in blood vessels, it is reasonable to infer that clot formation within the placental vasculature may result in placental insufficiency, intrauterine growth restriction and other complications. Intrauterine growth restriction (IUGR) is defined as estimated fetal weight below gestational age, according to ultrasound data, and birth weight below the 10th percentile of the birth weight for gestational age reference curve. Fetal growth restriction (FGR) affects 5–10% of pregnancies, leading to clinically significant fetal morbidity and mortality.

Aim: The aim of this study was to determine the intensity of connection between inherited thrombophilia (Factor V Leiden, Prothrombin G20210A and MTHFR C677T gene mutations) and IUGR.eng