Genetic issues in the care of the adolescent patient

Genetic issues are important in the primary care of adolescents. A genetic diagnosis may not be made until adolescence, when the teenager presents with the first signs or symptoms of the condition. The physician's knowledge of the natural history of a genetic disease will aid in the anticipatory guidance for teens and their parents. The physician may be called upon to advise the patient regarding hormone therapy or contraception. The paediatrician may initiate topics such as sexuality and sex education for the developmentally delayed patient. The paediatrician is also the advocate for the teenager, who must gain independence from the family in medical as well as other aspects of life. This article examines some of these issues, using cases to illustrate the genetic problems and approaches in the care of the teenaged patient.