Who is a Pediatric Genetic Counselor?

Why do we need one?

A pediatric genetic counselor specializes in genetic counseling services for children who may be at risk for a rare disease, children who are facing a rare disease diagnosis, and for children who have a confirmed rare disease diagnosis. They are also as much a service for the parents of these children, as the children themselves, in terms of offering education and support.

Just 12% of genetic counselors work in pediatric counseling, making them a highly specialized and sought after service, within genetic counseling as a whole. 

An increase in genetic testing options, as well as increased awareness about genetic testing and rare diseases, has led to a growing demand for pediatric counselors and their specialist services.

What is the role of a pediatric genetic counselor?

Pediatric genetic counselors translate medical language and information into a language and explanation, parents can understand. Terms relating to and surrounding genetics are not easy for non-medical professionals to make sense of, and pediatric genetic counselors are able to explain it to parents in non-medical terms.

This is very important when it comes to reducing confusion and fear amongst children and their families when faced with a rare disease diagnosis. The world of rare diseases, including their causes and symptoms, is not an easy one for parents to understand. Information and education are crucial to reducing their confusion and fear, by empowering parents with knowledge and understanding about their child’s potential or confirmed condition.

Pediatric genetic counselors identify and explain the genetic causes of rare diseases, as well as the risk of future children in a family developing the same condition or syndrome. They are able to explain how specific rare diseases are inherited, and what this might mean for the long term health of the entire family, including current and future children.

Pediatric genetic counselors are able to make recommendations for genetic analysis, screening, and testing options. They walk families through each of the different processes and screening steps involved in reaching a confirmed diagnosis. They are able to prepare families for any potential results, and what each might mean. 

To work closely with, and cooperate with, a team of multidisciplinary specialists involved in the care and treatment of a child with a rare disease. Ensuring cooperation between these different medical professionals and teams is important in providing consistent, high quality care for a child with a rare disease. A pediatric genetic counselor makes sure this cooperation happens, and that parents are included and involved within this network.

In their role counselors can also make recommendations for treatments, although the final decision rests with the medical team and the parents. But pediatric genetic counselors are able to suggest different options, and their outcomes, with families. 

Pediatric genetic counselors play an important role in offering emotional support to families facing a rare disease diagnosis in their child. This is a life changing event for all families, and counselors play a vital role in providing this crucial emotional support, as well as in helping families understand how they can manage the mental and physical elements of long term care of a child with a genetic syndrome.

Why might someone be referred to a pediatric genetic counselor?

There are several reasons why a family might be referred to a pediatric counselor. A family history of a rare disease, specific symptoms in a child, or genetic testing that seems to suggest evidence of a rare disease, are all reasons why a referral might happen.

Other more specific issues will usually relate to medical symptoms in a child that might suggest the presence of a rare disease. Anyone of the following symptoms may lead to a referral to a pediatric genetic counselor. 

  • Delayed growth, and failure to thrive
  • Growth that is abnormally fast
  • An autism spectrum disorder diagnosis, or autistic-like behaviors even without a confirmed autism diagnosis
  • Issues with newborn screening results
  • Developmental delay: in gross motor skills, speech and language ability, cognitive development, and social and emotional skills
  • Learning challenges
  • Heart defects- these may be congenital and diagnosed before birth, or shortly after
  • Neurological issues affecting the brain or other parts of the body
  • Physical concerns, or medical issues relating to physical development
  • Issues with vision or hearing, including partial to complete loss of either 

Finding a pediatric genetic counselor online

In recent years, genetic counseling has become increasingly available as an online, virtual service- connecting families to experts, from the comfort of their own home. This is improving accessibility to genetic counselors, and specifically to specialist genetic counselors, such as those specializing in pediatrics. This is an important step forward in improving care outcomes for rare disease children and their families, as it makes more targeted, accurate care accessible. 


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