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Health Care Professionals

Genomic Correlations to Childhood Health Outcomes: The First 1,000 Days of Life


Background Update

There is a growing appreciation for childhood health indicators to be predictive of adult health status. Preterm birth, childhood obesity, familial hypercholesterolemia, diabetes, and hypertension are but a few examples of emerging public health concerns. These multifactorial diseases paths include genetic, behavioral, infectious and environmental factors. The interplay among the contributing etiologic factors differs among these disease processes, but there is growing evidence for a genetic contribution in the determination of these various disease phenotypes. As evidence supports the hypothesis that genetic variants are associated with preterm birth, birth-defects, various pregnancy-related problems and childhood health diseases to include metabolic disease and learning and developmental disorders the interplay of genetics and state of health require examination.  

The First Thousand Days of Life is believed to set the stage for many future health outcomes. Observations taken over the gestational development (-270 days) and the first two years of life (730 days) provide the opportunity to document changes due to genetic, environmental, and developmental influences. Notable patterns in child health outcomes are being documented. According to the literature, over ten percent of children have a developmental delay. Many are not diagnosed until school age and yet early intervention is the optimal therapy for many of these disorders. If delays are identified too late then opportunities for optimal development may be lost. There is a growing interest in the genetic correlations with various developmental disorders. Recently, there was a report from England on an association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes.5 If such markers for disease and developmental disorders can be identified earlier, interventions can be designed to optimize childhood health outcomes.

Approximately 10-13 of every 100 pregnancies will be associated with obstetrical disease that often translates into adverse outcome for the newborn and developmentally for the child. As most large-scale genomic studies are limited to studies in cancer, with a significantly lesser number of genomic-based studies in pregnant mothers and neonates, there is a void in the type of research that may identify such markers. 

The burden of preterm birth is great and despite major efforts to elucidate the complex pathophysiologic patterns the process remains poorly understood. The authors/researchers have previously studied and identified the interplay among idiopathic spontaneous preterm birth and various genotype/phenotype contributions. As the science and the practice of genetic medicine have evolved, much attention has been focused on the predictive modeling of conception, fetal growth and childhood development factors on adult health status. From conception, the interplays of genetics and environment produce the health indicators and predictors that drive the health care system.