Between 3 and 6 percent of babies born worldwide have some form of inherited condition, but not all are serious. Some genetic disorders are detected at birth, while others may not be noticeable until children are older or even until adulthood.
Although family genetics play a role in 20 percent of birth defects, some conditions have unknown or other causes. The following conditions can be genetic, and they may have a major impact on a child's health and well-being:
- Autism spectrum disorders
- Developmental delays
- Learning disorders and intellectual disabilities
- Neurological disorders
- Neuromuscular disorders
- Connective tissue disorders
- Bone dysplasia
- Vision or hearing disorders
- Birth defects, such as spina bifida, cleft palate, brain malformations or heart defects
- Abnormal stature or growth
Highly trained genetic specialists at Riley at IU Health help families learn about genetic disorders and build understanding of treatment or management strategies for children who are diagnosed with a genetic condition. Pediatric genetic counselors focus on children of every age, from newborns to teenagers, using a broad base of knowledge that includes genetics, counseling, social work, psychology and statistics.
Families seek pediatric genetic counseling to arrange early treatment for serious disorders, become aware of potential health complications and help children reach their maximum potential. Our counselors work hand-in-hand with your child's healthcare team to guide your family toward the specialized care that may be needed.
When a family member is diagnosed with an inherited disorder, it can cause significant distress and anxiety. Genetic counselors are skilled in helping families cope with the emotional side of a genetic diagnosis. As part of supportive counseling, pediatric genetic counselors may direct families to other resources, including support groups in their community.
Families touched by an inherited disorder often have questions and legitimate concerns. Genetic counselors at Riley at IU Health are a valuable resource to families who face these issues.
Genetic counselors can:
- Assess the risk of having another child with a genetic disorder
- Assess the possibility of other family members having a child with an inherited disease
- Assess the risk of having an inherited disease that affects your health later in life, such as mitochondrial disorders, Fabry disease and Marfan syndrome
- Make recommendations for genetic testing
- Explain possible scenarios and outcomes
It is important to consider the fact that having a risk for a particular condition does not mean you will develop the condition or pass it to future generations.
What To Expect
What To Expect
A genetic counselor will review each child’s medical and family histories as well as any genetic tests previously performed. If indicated, a pediatric geneticist (physician trained in genetics) will perform a detailed physical exam, noting any subtle physical differences. We may:
- Suggest additional testing
- Make a diagnosis
- Provide education about a diagnosis
- Make suggestions for future medical care for your child
We can also discuss health risks and make recommendations for other family members.
What to Bring
Families who want to participate in genetic counseling are asked to provide a detailed personal and family medical history. This includes gathering information about both sides of your immediate and extended family—including mother and father.
You may be asked to name conditions within your family and provide information on past and present illnesses, pregnancies, intellectual disabilities, history of cancer and chronic conditions. You may want to prepare a list of questions to discuss with your genetic counselor to make sure we address all concerns.
Returning Home
Returning Home
After you seek genetic counseling for your child, our findings are sent to your child’s healthcare team. With your consent, we can communicate with other providers to ensure follow-up care is carefully coordinated based on the information discovered through genetic counseling.
Key Points to Remember
Key Points to Remember
- Inherited conditions can either have a major impact on a child’s life or be a minor factor that requires little follow-up care.
- Pediatric genetic counselors help families address genetic conditions that require further evaluation and specialized care.
- When a child is diagnosed with a genetic disease, families often have concern about whether they could give birth to other children with the same condition, or they may worry that the condition could affect other family members. Genetic counselors help families address these concerns.
- Pediatric genetic counselors are trained to support families who are dealing with the emotional side of a child’s genetic disorder.
Support Services & Resources
Support Services & Resources
Parents and caregivers can use these resources to develop better knowledge of genetic disorders and conditions, or learn more about the benefits and limits of genetic counseling.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The CDC publishes a wealth of information and shares links that can help families learn more about all forms of genetic counseling.
This is an exhaustive, consumer-friendly resource about genetic conditions, published by the U.S. National Library of Medicine.
This website is supported by the American Academy of Pediatrics and offers patient information about pediatric genetic counseling.
This professional organization for genetic counselors shares public information about the benefits of receiving genetic counseling.
The NHGRI was instrumental in mapping the human genome, and is dedicated to research that builds a better understanding of the effects of genes on health and disease. They offer exhaustive educational tools and links for consumers interested in genetics.
This organization publishes easy-to-read content about 1,300 rare genetic disorders and offers support groups for families affected by them.