Pediatric Genetic Counseling
Why Genetic Counseling Matters in Pediatric Neurology?
Genes act as the instruction manual for how the brain grows, develops, and functions. When a gene carries a change, called a genetic variant, it can contribute to conditions like epilepsy, developmental delay, movement disorders, and structural brain differences.
Only a few decades ago, genetic testing was slow, expensive, and reserved for rare cases. Today, tools like whole exome sequencing and whole genome sequencing have become one of the first recommendations after a neurological condition is diagnosed or suspected in a child. But the science is only half the picture. Without expert interpretation, a genetic report can feel like reading a foreign language, and families can walk away more confused than informed.
That is where our genetic counselor comes in
What to Expect from Genetic Counseling at NJPNI?
Pre-Test Before Testing: Pre-Test Genetic CounselingBefore any test is ordered, our genetic counsellor meets with your family to:Collect a detailed medical and family historyExplain how genetic variants occur, including why a child can have a genetic condition with no family historyWalk through the benefits, limitations, and possible unexpected findings of testingAnswer your questions so you can make the decision that is right for your childThe goal is informed consent, not pressure. Some families decide to move forward with testing. Others take time, or decide it is not right for them. Both paths are supported.
Post-TestAfter Testing: Post-Test Genetic CounselingOnce results come back, we meet again to translate the report into plain language. Every appointment is individualized, but most post-test visits cover:What the result means for your child's diagnosis and careTreatment implications, including targeted therapies, gene therapies, or clinical trials that may now be optionsFamily planning questions for parents considering future childrenHow to share genetic information with relatives who may also be affectedEmotional support for the adjustment that often follows a new diagnosis
When Results Are InconclusiveGenetics is not an exact science. Some tests come back without a clear answer, or with variants of uncertain significance. When that happens, we help families understand what is known, what is not, and what comes next, including periodic re-analysis as the field evolves and new discoveries are made.
How Genetic Counseling Improves CareA confirmed genetic diagnosis can change a child's care plan in meaningful ways:Predicting outcomes so families can plan aheadGuiding medication and treatment choices based on the specific genetic causeConnecting families to specialists whose expertise matches the diagnosisOpening doors to targeted therapies, gene therapies, and clinical trialsInforming relatives who may benefit from their own testing or monitoringBy combining neurological expertise with genetic counseling under one roof, and coordinating with our Clinical Pharmacy Team, NJPNI families receive personalized care that evolves as their child grows and as the science advances.
Meet Your Genetic Counselor
Jillian Kirk, CGC is a certified genetic counselor at NJ Pediatric Neuroscience Institute. She works directly with our pediatric neurologists to help families navigate genetic testing, interpret results, and understand what those results mean for their child's care and their family's future.
Conditions Where Genetic Counseling May HelpGenetic counseling is commonly recommended when a child has or is being evaluated for:Epilepsy and seizure disordersDevelopmental delay or intellectual disabilityAutism spectrum presentations with neurological featuresMovement disorderHydrocephalus and structural brain differencesNeuromuscular conditionsUnexplained neurological regressionFamily history of a known genetic neurological conditionIf you are unsure whether genetic counseling is appropriate for your child, our team can help you decide during an initial consultation.
Ready to Take the Next Step?
If your child has been diagnosed with a neurological condition, or if genetic testing has been recommended and you want expert guidance before moving forward, we are here to help.
Call us at: (973) 326-9000 to speak with our team, or request an appointment online and we will contact you within one business day.
Serving families across New Jersey from our Morristown office and additional NJPNI locations.
Frequently Asked Questions About Pediatric Genetic Counseling
Jillian Kirk, CGC, helps families understand complex genetic information, consider testing options, and make informed decisions based on their child’s needs and their family’s priorities.
“This is the most common question I am asked after someone is referred for genetic counseling,” says Jillian Kirk, CGC, certified genetic counselor at NJPNI.
“A genetic counselor is a member of the healthcare team who receives specialized training in medical genetics as well as counseling. The field of genetics can be complex and sometimes overwhelming, so my goal is to explain the information in a clear and easy-to-understand way while still providing families with accurate information.”
There are generally two types of genetic counseling appointments: pre-test and post-test.
During a pre-test appointment, Jillian will discuss your child’s medical and developmental history as well as your family health history. She may create a family tree to help identify patterns within the family. She will then explain which testing may be best suited for your child, the potential benefits and limitations of testing, and what different results could mean for your child and other family members.
A post-test appointment may be scheduled after genetic testing is complete. During this visit, Jillian will explain the results in detail and discuss what they mean in the context of your child’s personal and family history.
Come prepared with any questions, concerns, or topics you would like to discuss. Genetic counseling is a personalized process, so understanding what matters most to your family helps Jillian tailor the conversation to your needs.
When possible, gather information about family members with developmental delays, birth differences, congenital heart defects, cancer diagnoses, neurological conditions, or other significant medical concerns. It is also helpful to bring copies of any previous genetic testing reports completed for your child or other family members.
It is completely okay if you cannot collect every detail. The genetic counseling team will work with whatever information is available.
The most appropriate test depends on your child’s symptoms, medical and developmental history, family history, physical findings, and previous evaluations.
Testing may include a focused gene panel, chromosomal microarray, whole exome sequencing, whole genome sequencing, or another specialized test. Jillian and the medical team will explain why a particular test is being considered, what it may identify, and its possible limitations.
Genetic testing may produce several types of results:
- Positive or diagnostic: A genetic change was identified that explains or is likely to explain the child’s condition.
- Negative: The test did not identify a clear genetic explanation based on current medical knowledge and available technology.
- Inconclusive: A genetic change was identified, but there is not yet enough evidence to determine whether it is related to the child’s condition. This is often called a variant of uncertain significance, or VUS.
A negative result does not always rule out a genetic condition. Your child’s DNA does not change, but the medical interpretation of a result may change as scientific knowledge advances. In some cases, future reanalysis or additional testing may be recommended.
Yes. Families may experience a wide range of emotions when receiving genetic testing results, and those reactions are normal.
Jillian’s role is not only to explain the medical information but also to provide support as families process what the results may mean for their child and family.
“Many families wonder whether attending a genetic counseling appointment means they have to do genetic testing. My answer is always no,” says Jillian Kirk, CGC.
“You are not obligated to pursue genetic testing. Every family has unique values, beliefs, and circumstances. My goal is to provide education, answer questions, and share resources so each family can make the decision about genetic testing that feels right for them.”