- If you're concerned about a genetic condition in your child, you might consider seeing a pediatric genetic counselor.
- Pediatric genetic counselors work with newborns, infants, and children whose doctors have concerns about their health or development.
- Pediatric genetic counselors can recommend genetic tests, work with insurance companies to obtain coverage for genetic tests, and explain genetic test results to families.
Genetics can provide helpful information after a child is born if there are concerns about the child's health or development, whether these concerns happen shortly after birth or later in childhood.
You might want to consider seeing a pediatric genetic counselor for the following conditions:
- Developmental delay
- An autism spectrum disorder
- Multiple health problems or birth defects, including cleft lip or palate, a heart defect or spina bifida
- Metabolic disorders, such as PKU or galactosemia
- Sensory impairments, meaning a problem with vision or hearing
- Intellectual disability of unknown cause
- Abnormal physical features
- Family history of a genetic condition
- Known or suspected genetic disorder such as Down syndrome, cystic fibrosis or muscular dystrophy
- Any suspected genetic condition
Pediatric genetic counselors work with newborns, infants, and children whose doctors have concerns about their health or development. They work in a hospital or clinic as part of a larger healthcare team, which usually includes a specially trained doctor called a "medical geneticist" and other team members.
Their role is to support families, to answer questions, provide emotional support and resources to learn more about their child's condition, and connect interested families through support groups and/or research opportunities if available.
Pediatric genetic counselors also support the testing process and explain test results to families. They will:
- Help recommend genetic tests, work with insurance companies to obtain coverage for genetic tests, and explain genetic test results to families.
- Review a child's genetic test results and family history information to figure out whether other family members might have a chance to develop the condition their child has.
Genetic test results can help guide the child's medical care, and in some cases they can help guide treatment.