By: Kelly L. Jones, MD, FAAP, FACMG & Sonja A. Rasmussen, MD, MS, FAAP, FACMG
There are many reasons why your pediatrician might refer your child to see a medical geneticist. Sometimes it's for a health concern. If your child has a heart defect, learning differences or slow growth, for example, the doctor may want help determining whether a genetic condition could be the cause. Other times, a child might already have a diagnosed genetic condition, and the doctor seeks guidance on how best to manage it.
Whatever the reason, here's some information that can help you prepare for a medical genetics appointment and know what to expect.
Key members of a medical genetics team
During the visit, you and your family will meet different members of the genetics team. Team members may include:
a medical geneticist (a doctor who specializes in diagnosing and treating genetic diseases)
a genetic counselor (a health care professional who specializes in talking with families about their genetic conditions)
a metabolic dietician and other team members, including nurses, physician assistants and nurse practitioners
What happens during a medical genetics appointment?
A genetics appointment typically includes asking about the following:
Taking your child's medical history
A genetics appointment usually begins with questions about your child's medical history. The team will ask about the pregnancy, any health issues during the newborn period and whether any genetic testing was done before birth.
They'll also review health concerns that developed later, as well as other specialists your child has seen and any diagnoses already made. If your child has had genetic testing in the past, be sure to bring copies of the results to the appointment.
Family history
The genetics team will ask about at least three generations of your family—your child and their siblings, both parents and their siblings and all grandparents.
They'll want to know whether any relatives have health or developmental issues, and at what age those conditions were diagnosed. They'll ask if there have been miscarriages, stillbirths or infant deaths and causes of death for family members who have passed away. In addition, the team may ask about your family's ancestry and whether your child's parents could be related by blood.
Development
The team will also ask about your child's developmental milestones, such as when they began walking or said their first words. If your child has had developmental testing, bring those results—they're important for the evaluation.
Physical exam
In most cases, the medical geneticist or another provider will do a head-to-toe physical exam, looking for physical features that may offer clues about your child's condition. Geneticists often look for minor differences that other doctors might miss. These include differences in the creases of the hand or in the spacing of the toes.
The physical findings help determine which tests may be most useful.
Genetic testing
The next step is to discuss options for genetic testing. There's no single test that looks for every genetic condition, so they may recommend different types of testing based on your child's needs.
Some tests look for extra or missing genetic material, while others search for a specific change in genes. Past genetic testing may not have looked at the same things as new tests being recommended now. Your team will explain their specific plan, and you can decide whether you want to move forward. Genetic testing is always optional.
Costs of genetic testing
Many families are understandably concerned about the cost of genetic testing. Many times, insurance companies will pay for genetic testing. Sometimes, insurance companies will want to more information on the reason for genetic testing before the geneticist can order the test (this is called "insurance preauthorization"). Other times, the lab testing companies have financial assistance programs that allow cheaper genetic testing costs if families qualify.
Your genetics team will talk about the options for payment/coverage for genetic testing before ordering testing. You always have the option to not go through genetic testing if it is too costly.
Pro tip: There is lot of talking that goes into a genetics visit, and the visit can take an hour or longer. Young kids can get easily bored. It's a good idea to have quiet activities or toys your child can play with while you are talking to the genetics team.
Other tests
Sometimes the geneticist or another provider will order other tests before or at the same time as genetic testing. These tests may include imaging studies (such as an ultrasound) or labs looking at specific chemicals in your child's blood or urine.
Referrals
Sometimes the geneticist or another provider may recommend that your child see another specialist, such as a cardiologist, neurologist or developmental-behavioral pediatrician. There can be many reasons for this. Often, the goal is to learn more about whether your child has medical issues related to that specialty. This information can help guide genetic testing and support your child’s long-term care.
After genetic testing, what's next?
Your child saw a medical geneticist, and genetic testing was sent. What are the next steps?
The wait
Unfortunately, results from genetic testing take a while to come back. Some tests take about 2-3 weeks, while others can take up to 4-8 weeks or even longer. If your genetics team needs to talk with your insurance company before the test can be sent, that can add extra time. Your genetics team will give you an estimate of when to expect results.
The results
Most genetic tests can have 3 possible results:
Pathogenic variant: A genetic change known to cause a condition.
Variant of uncertain significance (VUS): A change where it's unclear whether it causes a condition or is simply a normal difference.
No genetic changes found: This does
not always rule out a genetic condition. The test may not detect the specific condition your child has, or the condition may not yet be identified by current medical science.
Some genetic conditions require two disease‑causing variants, while others require only one. Your genetics team will explain what each result means for your child.
The genetic testing report
The genetic testing report often shows up in your online portal the same day your genetics team sees it. The report can be hard to understand on your own. Your genetics team will review your child's test report and interpret the results based on your child's medical concerns. They will contact you to discuss what the results mean for your child and your family.
The impact on other family members
Sometimes genetic disorders run in families. In some cases, genetic testing can show that the child inherited a condition from a parent. This might mean changes to the parents' medical care as well. The genetic condition may be present in siblings or in future children.
Your genetics team will talk with you about whether other family members might be affected and what the chances are for the condition to occur in future pregnancies.
Follow-up
Follow-up care in a genetics clinic will be different depending on your child's test results.
If testing leads to a diagnosis: Some genetic conditions need regular follow-up with the medical genetics team for genetics-specific care and monitoring. Other conditions may need ongoing care from different specialists. For example, a child with a genetic cause of seizures would need follow-up care with a neurologist.
If testing was inconclusive or negative: Because the field of medical genetics is always advancing, your child may need follow-up in a couple of years. New discoveries or improved testing methods may identify a genetic condition that wasn't detectable before.
Your genetics team will explain when they would like to see your child again and what to expect moving forward.
More information
About Dr. Jones
 Kelly L. Jones, MD, FAAP, FACMG, an executive committee member of the American Academy of Pediatrics Council on Genetics, is a clinical geneticist and an Associate Professor in the Department of Pediatrics at the University of Arkansas for Medical Sciences.
About Dr. Rasmussen
 Sonja A. Rasmussen, MD, MS, FAAP, FACMG, an executive committee member of the American Academy of Pediatrics Council on Genetics, is a clinical geneticist and a Professor in the Department of Genetic Medicine and of Gynecology and Obstetrics at Johns Hopkins University School of Medicine.
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