Medical genetics is the field of medicine concerned with genetic changes that influence growth, development, and health. Genes determine familial traits such as eye color, blood type, and susceptibility to disease. Changes in the genetic material (mutations) can disrupt normal growth and development and may cause birth defects, developmental delay, growth problems, and many other health problems. Mutations that cause health problems and/or abnormal development can be inherited or they can occur for the first time in an individual.
The Division of Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders that are known or suspected to be caused or influenced by genetic factors. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation, many types of short stature, connective tissue disorders, and inborn errors of metabolism (defects in the processes by which substances in the body are synthesized and broken down).
A genetic evaluation and counseling session is designed to:
- Confirm, diagnose, or rule out a genetic condition
- Provide advice and recommendations for appropriate medical management
- Interpret and communicate information about the disorder
- Provide information about testing options
- Determine if other relatives are at risk for the disorder
- Provide support to families
- Help refer families to appropriate community services
Who could benefit from a genetic evaluation?
If you are concerned that you or another relative may have a genetic disorder, a genetic evaluation can be a part of your search for answers. A correct diagnosis – finding out the cause – can be an important step in planning appropriate medical management. Frequently it is also important to learn if the condition is likely to occur again in your family, find other sources of information, and connect with other families who have similar questions and concerns. A genetic diagnosis with recommendations for management may also be helpful to your other doctors, or to therapists and teachers working with an affected child.
Examples of individuals who may be referred to a genetics clinic include those who are affected with or have a family history of:
- One or more birth defects such as a cleft lip, cleft palate, or congenital heart defect
- Short stature, or other unique physical characteristics
- Conditions known to be caused by altered genes such as phenylketonuria (PKU), Huntington disease, muscular dystrophy, dwarfism, and other connective tissue disorders
- Chromosome abnormalities like Down Syndrome
- Mental retardation, autism, or learning disabilities
- Hearing or vision loss
- Babies with an abnormal newborn metabolic screen or older individuals with a known or suspected metabolic (biochemical) disorder
When you are planning a pregnancy, you can find out more about factors that may influence your baby's health. Some of these are the mother's health and age, the family medical history, and exposures during pregnancy to alcohol, illegal drugs and certain medicines.
During a pregnancy, you can ask questions about the risk for birth defects and other genetic conditions in your baby. Tests may be available to help you learn more.