Clinical Genetics is a medical specialty that deals with individuals who have inherited disorders or birth defects. A genetic condition can require the expertise of a medical geneticist for diagnosis, management and treatment.
Infants and children with birth defects, delayed development or multiple medical problems are often seen by a geneticist to find out if a genetic condition is responsible for the child's problems. If a genetic diagnosis is made, follow-up might include additional testing, specialty referrals, and individualized monitoring. Currently, there are few genetic cures, but there are treatments available for many conditions.
One of your child's doctors, the pediatrician, or you can request a genetics evaluation to better understand some aspect of your child's medical health or development. If your child has been referred to Genetics for a specific reason you can learn more about what to expect at your visit by clicking one of the handouts below:
How to prepare for a pediatric genetics appointment
There are several things you can do to prepare for your genetics visit:
Bring all medical records your child may have from non-Kaiser clinics and hospitals.
Review your child's developmental milestones
At the visit you may be asked about the age each milestone happened. Developmental milestones include the age when your child first rolled over, sat alone, stood alone, walked, first words, etc.
Review your family's medical history
Ask your relatives about any family members with medical issues or developmental disabilities. For relatives who are no longer living, ask about the cause of death and their age when they died.
Consider bringing family photos to the visit
It is sometimes helpful to see photos of others in the family, especially brothers and sisters of the child being seen, a parent who isn't able to come to the visit, or relatives who resemble your child. If your child is older, pictures from infancy and early childhood may also be helpful.
Bring any formal school evaluations your child has had (e.g., developmental assessment)
Bring a written list of questions you would like to ask the geneticist.
What to expect at a pediatric genetics appointment
Appointments in the Genetics Department are often more detailed and somewhat different from other medical appointments. Because of the complex and rare nature of many genetic conditions, initial visits can take an hour or longer. Both a physician geneticist and genetic counselor are typically present.
Some things that often happen during a pediatric genetics appointment include:
Discussion of the reason for the consultation
Review of the pregnancy history and birth history
This includes any special testing done during the pregnancy, problems identified before birth, exposures or illnesses during the pregnancy, and any complications that happened. You are also asked about your child's delivery and any problems in the newborn period.
Review of your child's developmental milestones
Review of your child's medical history
The computerized records and any available paper records are reviewed. In addition, the medical geneticist may ask the parents to go over the history in detail to make sure the history is as complete as possible.
Review of the family history
The counselor draws a family tree, known as a pedigree. The pedigree shows both sides of your child's family for several generations. The genetic counselor asks about birth defects, developmental delays, intellectual disabilities, and medical conditions that may be in the family. The countries of origin (ethnicity) for both sides of the family are helpful to know. Some genetic conditions are more common in certain parts of the world or in certain ethnic groups. It is also routine to ask if a couple is related by blood. Certain genetic conditions are more common when the child's parents are blood relatives, such as cousins. Sometimes the history questions are asked by a genetic counselor by phone before the actual visit.
The physical exam can include measurements of many body parts. You can reassure your child prior to the visit that we do not do anything painful during the exam, such as shots.
Discussion of findings, possible diagnosis, and any follow-up recommendations
In many cases no specific diagnosis is made in the first visit. Laboratory testing or specialty referrals might be recommended to try to learn if the medical problems are due to a genetic condition. When a genetic diagnosis is made, you are provided with detailed information about the condition. The geneticist recommends how to take care of your child's special medical needs. In many cases, the diagnosis lets the genetic counselor or geneticist provide an accurate estimate for a similar condition to affect other family members. Prenatal testing options for future pregnancies are also discussed.
What to expect following a pediatric genetics appointment
After the visit the genetic counselor may contact you to see how you and your child are doing, answer any new questions, and see if you have any further needs. If follow-up recommendations were made, such as laboratory tests, procedures, or specialty referrals, the genetic counselor helps coordinate these and reviews the results when completed. If there is a new pregnancy (or a pregnancy is being planned), the genetic counselor can update the family on current information about the condition and the possibility of prenatal testing. The counselor/doctor team welcomes continued contact after the visit to address any unanswered questions or concerns. You can call the office or send a secure e-mail using The Message Center located on the Kaiser Permanente website.
Last reviewed: January 15, 2013
Reviewed by: Kaiser Permanente Genetics