I.

Introduction

Genetic Disorders, medical conditions caused by an error in a person’s genetic material. Some genetic disorders result in medical problems that are apparent at birth (see Birth Defects), while other genetic disorders do not become evident until childhood or adult life. Genetic disorders range in severity from those that cause death to those that produce only mild problems, such as color blindness. Scientists have identified more than 9,000 genetic disorders. Some of these disorders are extremely rare, while others are comparatively common.

Genetic disorders pose a medical challenge. Scientists have not yet developed cures or effective ways to treat many genetic conditions. Many genetic disorders are complex, involving several different parts of the body, making treatment difficult. For example, patients with cystic fibrosis require treatment for problems affecting the lungs, pancreas, intestines, and liver. In some instances, doctors must diagnose and treat affected newborns immediately to prevent them from developing complications that would cause impaired development or even death. In addition, genetic disorders have unique personal, family, and social consequences. Parents who have a child with a genetic disorder may blame themselves for having passed on the genetic condition. Healthy siblings or other members of an affected person’s family may feel guilty for having escaped the disorder. Some people with a genetic condition may feel different or stigmatized because they perceive their genes as flawed. People may alter their plans to have children because they do not want their children to develop the genetic condition.

Specially trained health professionals help people deal with the complex medical and social consequences of genetic disorders. Clinical geneticists are physicians who diagnose and treat individuals with genetic disorders. These professionals explain the medical facts related to the disorder, such as the factors that cause the disease and the diagnostic and treatment options available. Genetic counselors are health professionals with graduate training in human genetics. Genetic counselors work alone and with clinical geneticists to help couples understand their risks of having a child with a genetic disorder. Genetic counselors also help patients choose a course of action to deal with their disorder that is in harmony with their feelings about the medical risks, their family goals, and their ethical and religious values.