Understanding Your Child's Genetics
Pediatric Genetics is a specialty that looks to identify and understand how genes and inherited conditions affect a child's growth, development and health. Everyone has genetic variants—small differences in their DNA that make each person unique. Most variants are harmless, but some can contribute to medical conditions. Pediatric genetics helps identify when genetic variants may be connected to a child's symptoms, diagnosis, or future health needs, and guides families on care, treatment, and inheritance.
Overview
As the only pediatric geneticist in the Lehigh Valley, we care for infants, children, and families with genetic conditions across the lifespan. We will work closely with other specialists to diagnose conditions such as congenital differences, growth and feeding concerns, and neurodevelopmental disorders, including autism. Using advanced genetic testing we help families better understand diagnoses and connect to resources, with the goal of supporting informed care and more personalized treatment.
Our genetic counselors can guide you in deciding whether genetic testing may be appropriate and help you make informed, confident decisions about your child’s care. They also remain involved after your visit—reviewing test results, explaining genetic findings in clear, understandable terms, and providing ongoing counseling and support as new information becomes available.
Pediatric Genetics: Diagnosis & Care
We use the history and physical exam, in addition to comprehensive or targeted genetic testing to determine if there is an identifiable genetic explanation for a medical problem. The pediatric genetic specialists at St. Luke's care for the following—and more:
- Autism spectrum disorders
- Birth defects
- Chromosomal disorders
- Conditions caused by new genetic changes
- Connective tissue disorders
- Craniofacial differences
- Developmental delays or intellectual disabilities
- Growth problems
- Hearing or vision impairments
- Inherited conditions (passed down in families)
- Metabolic or biochemical conditions
- Neurocutaneous disorders
- Neurological conditions
- Pediatric cancer predisposition conditions
- Skeletal dysplasias
- Single gene disorders
- Syndromes that affect multiple parts of the body
- Vascular and overgrowth conditions
Family-centered care
At St. Luke’s, you and your family are members of your child’s care team. That’s why we make receiving care easy and accessible. Our comprehensive care model includes several key features:
Convenient location
We offer genetic services at St. Luke’s Pediatrics Specialty Center.
Translation services
We provide translators (as needed) to ensure clear and comfortable communication.
Available provider support
MyChart - our electronic health record portal provides access to your child’s care team to answer your questions or address non-emergent concerns, see test results and more.
Understanding Genetics
Genetics is the study of genes, which are the instructions that tell our bodies how to grow and function. Because genes are passed through families, they can sometimes help explain health conditions, developmental differences, or traits that run in a family.
Your child may have been referred by their healthcare provider to help better understand their health, growth, development, or family history. A genetics evaluation can help determine whether genetics may play a role and provide answers, recommendations, or guidance for next steps.
A genetic counselor helps families understand how genetics may affect their child's health and development. They review family history, explain genetic testing and results, answer questions, and help families make informed decisions about their care.
A Geneticist (physician) can diagnose and manage genetic disorders, guide medical treatment, place referrals and create care plans. A genetic counselor helps families understand genetic conditions and results, while providing education and support.
Your visit & results
During your visit, the genetics team will learn more about your child’s health, development, and family history. The Geneticist will perform a physical exam, review previous records, discuss whether genetic testing may be helpful, and answer your questions. A genetic counselor may also be part of the visit to gather family history and help coordinate genetic testing, if needed.
Not necessarily. Some children may benefit from genetic testing, while others may not need testing. Your provider will explain the options and help determine whether testing is appropriate.
After your child's consult, the genetics team will discuss recommendations and any next steps, which may include additional testing, referrals, treatment recommendations, or follow-up visits. If genetic testing is completed, results typically take about 2–3 weeks to return. Once the results are available, a member of our genetics team will contact you to review the findings and discuss any recommended next steps.
Sometimes. Genetic testing can help guide medical care, identify helpful resources, connect families with support groups, and provide information about what to expect in the future. However, not every child receives a definitive diagnosis.
If genetic testing is recommended, your genetics team will explain what the test may help identify and what the results could mean. Most genetic testing completed in our office is done with a simple, painless cheek swab. We will also review any insurance or cost considerations before testing is completed.
A normal genetic test does not mean your concerns are not real. Some conditions cannot yet be identified through current testing. Your genetics team will discuss whether additional testing or follow-up is recommended.
Some genetic conditions can run in families. If a genetic diagnosis is identified, the genetics team can discuss whether testing or evaluation may be helpful for other relatives.
Find a Pediatric Geneticist
Call 484-658-KIDS (5437) to find the specialized care your child needs close to home.