Pediatric Genetic Counseling

What is pediatric genetic counseling?

Pediatric genetic counseling provides essential genetic counseling services to rare disease patients and their families. Pediatric genetic counseling is a specialist service, within genetic counseling, and it is targeted at patients ranging from newborn to teenagers. 

Pediatric genetic counseling aims to make sense of rare diseases, including their causes and symptoms, in children (birth to 18 years).

Pediatric genetic counselors understand rare diseases, their causes and development in children, and are able to help parents and families navigate the diagnosis process for them and their child. 

The services


Pediatric genetic counseling aims to empower parents about their child’s rare disease, or risk for developing a rare disease. It helps parents understand how rare diseases are inherited, and other possible causes for them, including spontaneous or new genetic mutations.

Pediatric genetic counseling helps parents understand if their own genetic health may impact on their future child’s health and their potential to develop a rare disease. It can also help detail the steps they can take, to ensure the health of their future children. It can help parents understand the risk, if any, of a future child being born with a rare disease. 

It also helps parents understand how a family history of specific medical symptoms, or conditions, may lead to a rare disease diagnosis in their child or children. It can also help place a child’s symptoms or medical conditions within the context of a rare disease.

At the same time pediatric genetic counseling understands how specific rare diseases and their symptoms may develop in children, and they are able to prepare families for this, while also coordinating and suggesting appropriate treatment and long care options where relevant. 

This genetic counseling specialty can also empower rare disease families by connecting them to support groups and networks, as they learn to live with a rare disease. This is very important for families with a new diagnosis, and for families navigating a rare disease as their child grows. 

Pediatric genetic counseling understands the unique needs of families and children facing a rare disease diagnosis, including how rare disease symptoms may vary between a child and adult with the same diagnosis, or even within children within the same family, with the same diagnosis. It can also prepare parents for what is ahead in terms of how their child’s symptoms may alter and change during the course of their childhood, and into adulthood.

Some genetic syndromes present at birth, others only with the onset of puberty. Genetic counseling specialising in the diagnosis and care of children understands the complexities of genetic syndromes and how they are diagnosed. This is important when it comes to ensuring an accurate diagnosis, and a timely one. 

This type of genetic counseling is also important in helping families understand which type of pediatric genetic testing is right for their child, and pediatric genetic counselors are able to recommend the type based on their understanding of a child and family’s health. 


Pediatric genetic counseling provides emotional and medical support for young rare disease patients and their families. 

Emotional support is very important during the diagnosis of a rare disease in a child. This can be a very challenging time for a family as they come to terms with a diagnosis, and understand it better, and what it will mean for their family. 

But this emotional support is also important for any family undergoing genetic testing or screening for a rare disease in a child, even if the testing eventually rules out a rare disease. The process itself can be long, and time consuming, and filled with unknowns and many fears. Pediatric genetic counselors know how to navigate parents and children through all of this, and provide crucial emotional support along the way too. 

Genetic counseling, in any form, also offers important support with coordinating medical teams and professionals. They help parents ensure cooperation between different medical professionals responsible for the short and long term medical care of a child with a rare disease, and they can help act as advocates for this care too. 

Online pediatric genetic counseling

Recent developments in telegenetics are making it possible for families to access pediatric genetic counseling online. This in turn enables families to connect with specialist genetic counselors from all over the world, and at the sane tine it allows them to connect to them faster and more easily. 




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