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Clinical Genetics Evaluations


The American College of Medical Geneticists recommends that all individuals diagnosed with Autism Spectrum Disorder (ASD) be evaluated by a medical geneticist. A medical geneticist is a medical doctor whose specialty is the diagnosis and management of hereditary disorders. A medical geneticist sometimes works with a genetic counselor.

There are two main reasons to get a clinical genetics evaluation. The first is to serve as a screening for other medical problems. Sometimes ASD occurs as part of a syndrome, such as Fragile X syndrome, Tuberous Sclerosis, or Rett syndrome. Children with these syndromes may have other medical problems, such as seizures, sleep problems, skin conditions, or problems with motor skills.

The second reason families see a medical geneticist is to better understand the likelihood of other family members to be diagnosed with ASD. In families where the genetic cause of ASD has not been identified, the risk of siblings developing ASD is 15-20%. In families with two or more affected siblings, the risk of future children developing ASD may be as high as 35%. A clinical genetics evaluation may help to determine the specific risk in a family.

A clinical genetics evaluation usually begins with the geneticist or genetic counselor asking questions about your child's medical history, including details about birth, developmental milestones, and learning problems. You will also be asked about family history from both sides of the family. The geneticist will ask specifically about other family members on the autism spectrum, those with intellectual disability or learning problems, or those that had any type of developmental delay (for example, a speech delay). This information helps the geneticist decide which testing, if any, may be helpful for your family.

The next part of the evaluation is a physical examination. A clinical genetics physical exam includes many of the same procedures as a physical exam performed by your child's pediatrician. During the physical exam, the medical geneticist is looking for clues that might lead to a diagnosis of a genetic syndrome. The clinical genetics physical exam may include:

  • Measurements of hands, feet, ears, eyes, or other body parts
  • Examination of skin with a special light
  • Photographs of body parts

The final part of the evaluation is usually a discussion between the genetics team and the family about any significant findings that came up during the medical and family history questions and the physical exam. Recommended genetic testing, if any, is often discussed at this time. Families also have the opportunity to ask questions about any findings or genetic testing. The family may be asked to schedule a follow-up appointment to discuss the results of the genetic testing and to follow the child's development.

The Center for Autism Research and The Children's Hospital of Philadelphia do not endorse or recommend any specific person or organization or form of treatment. The information included within the CAR Autism Roadmap™ and CAR Resource Directory™ should not be considered medical advice and should serve only as a guide to resources publicly and privately available. Choosing a treatment, course of action, and/or a resource is a personal decision, which should take into account each individual's and family's particular circumstances.