Children are often referred to a geneticist to help diagnose and rule out various genetic causes for a current condition or behavioral development issue. The child’s medical record is needed so the geneticist and the genetics care team can better understand his or her history.
The parents and child will meet with at least one member of the genetics care team, which is comprised of a genetic counselor, clinical genetics fellow and geneticist. Upon arrival for the first visit, families will be directed through the following process:
The child's height, weight and blood pressure will be taken.
A detailed history will be taken by the genetics care team, including questions about the mother’s pregnancy and birth history. Information about the child’s developmental, medical and family history is very important to help find the appropriate diagnosis.
The care team will perform a specialized physical exam, including various genetics tests, blood tests, urine tests, X-rays and/or an MRI.
A follow-up appointment will be scheduled to discuss the results of evaluations and any testing ordered.
The first visit for new patients typically lasts about one hour and return visits are usually shorter.
Follow-Up and Diagnosis
A genetics care team member will explain the results of the physical exam to the family and child. If a diagnosis can be made, the care team will share what is known about the condition, including the cause, pattern of inheritance, prognosis, recurrence risks, available resources and possibilities for prenatal diagnosis as well as genetic testing for family members.
Unfortunately, a diagnosis cannot always be made despite the extensive evaluations performed. The care team will share as much information as they have with parents to help them make informed decisions. A future follow-up visit is recommended, because knowledge of genetics and genetic testing techniques are always evolving and certain genetic conditions may become clearer with time.
Dr. Natalie Gallant, MD
Kathryn Singh, MPH, MS, LCGC