Global Aspects of Preventive and Personalized Medicine of Orofacial Clefts

Objectives:
Oral diseases represent the most common diseases with significant socio-economic impacts. Orofacial clefts (OFC) and craniofacial anomalies are the second most common and the first most serious congenital anomalies of the orofacial region. Treatment is challenging and costly and involves functional, structural, esthetic, and psychological aspects affecting a quality of life.
Methods:
Birth prevalence from our studies and from studies by others allowed us to estimate world population affected with OFC (cleft lip, cleft lip and palate, and cleft palate). Our studies of primary prevention of recurrences of nonsyndromic cleft lip and palate (NCLP) as well as population based studies of occurrences together with present knowledge of genetic and environmental factors involved in etiology of NCLP were applied to recommendation of a realistic preventive approach.
Results: Combined data revealed birth prevalence of OFC as 17/10,000 birth, 7.3 million individuals with OFC in the world today. With a projected population increase, there will be 1.4 times more 20 years from now. In Lancet in 1982, we first published our study suggesting that NCLP can be prevented by periconceptional supplementation with folic acid (FA). Later, we showed 65% decrease in recurrences, when mothers were daily supplemented with multivitamins containing 10 mg FA (in Teratology 1995) and 27-50% decrease in occurrences, when mother’s diet contained 400 mcg of FA daily (in Lancet 1995). Many other studies were focused on candidate genes, FA, maternal nutrition, lifestyle, and environmental factors
Conclusions:
There is already enough scientific evidence suggesting that a significant proportion of NCLP are preventable. However, different genes creating susceptibility for NCLP and different environmental factors triggering them exist in different populations as well as in different individuals - “one size does not fit all”. Therefore, a prevention approach has to address these differences in specific cleft prevention strategies.