|
Impact of Medical Genetics
In the past two decades, the field of medical genetics has undergone dramatic changes. Advances in knowledge and technology have been rapidly applied to medical practice. Genetics has been transformed from a research oriented academic field dealing with a few rare diseases into an increasingly useful and accessible medical specialty. Advances in the knowledge and application of genetics at the molecular level will continue to have a tremendous impact on health care.
Genetically determined disorders account for a major portion of health care services. Over half of the children admitted to pediatric wards in major medical centers have a significant genetic component in the etiology of their illness.
Although individually rare, specific genetic disorders in aggregate affect five percent of the population. An even greater impact is seen when taking into account the genetic component of many common health care problems, such as cancer, diabetes, and heart disease. Some genetic disorders can be treated; however, many result in disabilities and account for a disproportionate share of the nation's health care expenditure.
Birth defects occur in approximately five percent of all live births. In nearly three percent, the defect is serious enough to threaten life or to cause significant long-term disability. More than half of all birth defects are of genetic etiology.
Some defects result from an abnormality in the number or structure of chromosomes, some are the result of a single abnormal gene or pair of genes, and still others are the result of a combination of genetic and environmental factors (multifactorial inheritance).
Some birth defects are caused by teratogens (infectious agents, chemical or physical environmental hazards), and it is thought that susceptibility to these agents may be, at least in part, genetically determined.
|
