Does Your Child need to see a Medical Geneticist

There are a number of reasons why your pediatrician may recommend that your child meet with a medical geneticist, a doctor who specializes in the diagnosis and management of genetic diseases and syndromes. Some of these reasons include:

  • Abnormal results on newborn screening
  • Growth abnormalities
  • Physical abnormalities or malformations (such as heart defects, spina bifida, etc.)
  • Mental retardation or development delay
  • Autism
  • Seizures and epilepsy
  • Evaluation for a suspected genetic condition or chromosome abnormality
  • Blindness or deafness
  • Family history of a known or suspected genetic condition, congenital birth defect, or chromosome abnormality


Genetic consultations take on average 60 minutes. Pediatric consults may require multiple visits over time as different features may become apparent at specific ages or developmental stages.

In addition to the medical geneticist, a genetic counselor may also participate in the consultation. Genetic counselors are specialists trained in both medical genetics and counseling.

At the appointment, the doctor or counselor will begin by taking a detailed personal and family health history by creating a family health tree called a “pedigree.” The doctor may also perform a physical exam. All of the information gathered in the consultation will be evaluated along with any other relevant genetic and non-genetic test results to:

  • Assess genetic risks
  • Diagnose, confirm, or rule out a suspected genetic condition
  • Discuss diagnostic genetic testing options
  • Discuss condition management or treatment.


Before a genetic consultation, it is helpful to collect your family health information from relatives including disease diagnoses, age of disease onset or death, genetic testing results, as well as non-genetic, medical testing results.

Inherited Health’s Family Health History tool allows you to collect, document and update your family health history online so it can be conveniently printed before any doctor’s appointment. When you better prepare for your appointment, you can be a better advocate for your child.

Published on: November 17, 2010
About the Author
Photo of Jordanna Joaquina MS CGC

Jordanna Joaquina, MS, CGC is a board certified genetic counselor. She is also Co-founder and Director of Genetics of Inherited Health, an online secure resource that combines family health history and hereditary disease risk assessment. Inherited Health helps families take steps to lower their disease risks together.

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