Although genetic diseases are relatively rare, they include a wide range of different conditions with different outcomes. Many genetic diseases cause birth defects that can be detected early in childhood. Other metabolic diseases are detected by a newborn screening test, and many others are manifested as chronic diseases in adulthood.

An individualized approach is necessary because each situation is different, so the particular advice and treatment will depend on the individual’s particular condition. Doctors often rely on a genetic counselor to provide support to families affected by genetic diseases and birth defects. A genetic counselor is a specially trained health professional that provides services in a clinical setting as requested by doctors. Support and information regarding prenatal screening in pregnancy, newborn screening, and genetic testing for children and adults carrying certain genetic traits are among some of the services provided by genetic counselors. Genetic counselors also can review your family history and provide advice that might help detect a genetic disease that has been in your family for a long time. They can educate families on their risk of having inherited traits and review available options for families, as well as advocate for patients or families affected with genetic disorders looking for treatment options.

Genetic counseling is the process of discussing and exploring health related to heredity and genetic disorders. This discussion occurs between a specialist (genetic counselor) and you. A genetic counselor will:

• evaluate your family history and medical records
• determine your genetic risk
• explain your testing options
• suggest who in a family should have genetic testing
• help you understand the risks, benefits and limitations of the testing
• evaluate the results of the tests
• assist you in understanding your options
• provide support

More information about genetic counseling is available at this link:

l Read more   l Watch video

This is a multi-media resource from the Carol & James Herscot Center for Children and Adults with Tuberous Sclerosis Complex at Massachusetts General Hospital, Boston, Massachusetts. Produced by the WGBH Educational Foundation ©2006 The General Hospital Corporation

•Genetic counselors are certified and licensed health professionals who are specially trained in the areas of inherited conditions.

•Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, outline testing options, and lay out possible scenarios.

•They can refer you to a doctor or a laboratory for testing.

•They will explain the meaning of the medical science involved, provide support, and address any emotional issues raised by the results of the genetic evaluation and testing.

More information on genetic counselors is available at this link:

l Read more

•Individuals or families who are concerned about an inherited condition may benefit from consultation with a genetic counselor.

•Genetic counselors offer information and education to patients so that the best health management choices can be made.

•Pregnant women are often referred to genetic counselors after a screening test indicates an increased risk to the fetus or a diagnostic test shows fetal abnormalities.