Genetics Northern California

Pediatric Genetics

Pediatric pt smallGenetics is a medical specialty that focuses on inherited conditions or birth defects. At a pediatric genetics visit you and your child meet with a doctor who specializes in the diagnosis and care of individuals with genetic conditions. Infants and children with birth defects, delayed development or many medical problems are often referred to Genetics to find out if a genetic condition is responsible.

If your child has been referred to Genetics you can learn more about what to expect at your visit by clicking one of the handouts below:
    What to Expect at Your Child's Genetic Visit
    What to Expect at Your Child's Genetic Visit for Hearing Loss

How to request a genetics evaluation for your child
Your child's doctor or you can request a genetics evaluation to better understand some aspect of your child's medical health or development.

How to prepare for a pediatric genetics appointment 
There are several things you can do to prepare for your child's genetics visit:

  • Review your child's developmental milestones
    At the visit you may be asked how old your child was when they reached important steps in development. For example, you may be asked when your child first rolled over, sat up, stood, walked, or said their first word.

  • 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
    Photos of others in the family or pictures when your child was younger can sometimes help with a diagnosis. You may want to bring photos of your child's brothers and sisters, or a parent who will not be at the visit. If your child is older, pictures from infancy and early childhood may also be helpful.

  • If requested, bring outside medical records or school evaluations
    Non-Kaiser medical records and school evaluations may give the doctor a more complete picture of your child's health. If your child was seen outside Kaiser for medical care, you may be asked to bring a copy of the records. It can also be helpful to bring a copy of any school evaluations that describe your child's learning strengths and weaknesses.

  • Write a list of questions you would like to ask at the visit

What to expect at a pediatric genetics appointment
Appointments in the Genetics Department may be different from a typical medical appointment. Initial visits may last an hour or longer. Both a genetics doctor (called a medical geneticist) and genetic counselor are usually present.

Time will be spent reviewing important details about your child's history including:

  • Why your child was referred 

  • The pregnancy and delivery experience
    This includes any special testing done during the pregnancy, problems seen before birth, exposures or illnesses during the pregnancy, and any complications that happened. You are also asked about the delivery and any problems in the newborn period.

  • How your child is developing 
    You will be asked about your child's learning and behavior. If your child's development has been tested, you will be asked about results from the test. 

  • Your child's medical history
    The electronic records are reviewed. In addition, the doctor may ask questions about the history to make sure the history is as complete as possible.

  • The family history
    The genetic counselor asks about health conditions on both sides of the family. The counselor draws a family tree, known as a pedigree. The family history will include your child's ethnicity (or where your ancestors came from). 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 family history is reviewed by phone before the actual visit.
Some things that may happen during the visit include:
  • Physical exam
    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. Genetic testing or a referral for more evaluations might be recommended. When a genetic diagnosis is made, you are given information about the condition and told about family support resources. The geneticist recommends how to take care of your child's special medical needs. In many cases, a diagnosis lets the genetic counselor or geneticist estimate the chance for the condition to affect other family members. Prenatal testing options for future pregnancies may also be discussed.

What to expect after 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: December 1, 2017
Reviewed by: Kimberly Barr, MS, LCGC