Genetic disease: effects on human health

Abstract

Genetic variation (chromosomal, single gene, multifactorial) is a significant cause of morbidity and mortality in human populations. It increases in relative importance along with improvement in socioeconomic and environmental conditions and in association with prudent lifestyle. It affects longevity, development, reproductive capability, schooling, work and appearance of individuals. Its evidence is ubiquitous in the health care disciplines. Health care systems in general do not provide resources to meet the demand for genetics. Prevention of mutations, avoidance of their effects by reproductive counseling and treatment to offset mutant phenotypes are increasingly relevant scientific initiatives with broad social implications.