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A common question in our profession is: "Why did this child develop this disease at this time?"
A common question in our profession is: "Why did this child develop this disease at this time?" According to Dr Barton Childs, who has been described as a founder of pediatric genetics, the answer always lies somewhere on a continuum that begins with genetic endowment but is profoundly and continually influenced by environment and culture.
Childs spent the last 2 decades of his life emphasizing the importance of the interplay among environmental and developmental experiences and the genetic endowment of individuals. He wrote and spoke about genetics, not as an isolated field, but as a means for weaving together traditional basic sciences and clinical medicine, predicting that the future of medicine lies not in categorization of disease but in recognition of individuality.
Now, as in the past, the important questions are: "What disease does this particular human being have? Why does he have it at this time in his life? In what way does he differ from the others among whom he lives? What can I do to restore this person's unique orientation to the environment?"1
Genes and their protein products are fundamental to the individuality of human beings, but even as our understanding of the role of genes in human disease expands, so does the importance of family, social, and environmental history.
Dr McMillan , editor-in-chief of Contemporary Pediatrics, is professor of pediatrics, vice chair for pediatric education, and director of the pediatric residency training program, Johns Hopkins University School of Medicine,Baltimore.
1. Childs B. Genetic Medicine: A Logic of Disease. Baltimore, MD: The Johns Hopkins University Press; 1999.