Pediatric Clinical Genetics
Pediatric Clinical Genetics at Golisano Children's Hospital
Genetic conditions occur as a result of an inherited change (mutation) in DNA. There are multiple types of genetic diseases that can affect your child in different ways.
Starting the process of genetic testing can be overwhelming. At Golisano Children’s Hospital at University of Vermont Health, our geneticists, genetic counselors and metabolic dietitians work together to provide compassionate, comprehensive care. We bring your family our expertise and are closely connected with genetics experts across the world.
Why Choose Golisano Children's Hospital?
We offer:
- Specialized skills and treatment: Our pediatric geneticist has specialized training in advanced therapies, such as enzyme replacement for metabolic disorders. We help you understand what a diagnosis means for your child and family.
- Convenient access: We use digital health as much as possible to increase access to care. We can often review test results and provide genetic counseling in virtual visits.
- Resources and support: As part of Golisano Children’s Hospital, we easily coordinate care with other pediatric specialists as needed. Our Child Life specialists help ease children’s anxiety over procedures with relaxation techniques and play-based distraction.
- Established expertise: As part of a health system anchored by an academic medical center, many of our physicians are active researchers. We are members of national organizations supporting research that has international impact.
Pediatric Genetics Services
Our pediatric geneticists care for children in multiple ways, including through our:
Most children with potential or diagnosed genetic conditions are treated at the outpatient clinic of our Children’s Specialty Center. We offer physical exams, genetic counseling, diagnosis and management for a range of genetic disorders.
Children with genetic disorders that interfere with how their bodies turn food into energy are diagnosed and treated at our Metabolic Clinic.
Often, doctors identify these rare disorders during newborn screenings. We treat metabolic defects in a variety of ways. Treatment may include diet, medications and enzyme replacement therapy, a specialized treatment not widely available elsewhere in our region.
We work closely with a team of experts to care for children with craniofacial disorders, conditions that affect a child’s face or skull. Genetic testing can help us understand what gene changes cause these conditions and guide treatment plans.
We offer genomic sequencing for children in the hospital who are suspected of having a genetic disorder.
Child Life Program
Medical care can be overwhelming for children. Our Child Life Specialists help your child cope with stress, prepare for procedures and understand their care. These highly trained specialists offer your family support as you navigate our health system.
What to Expect with Genetic Testing
When you schedule an appointment with our genetics team, one of our genetic counselors will call you to discuss what to expect. They will ask about your child’s needs, family history and concerns.
During your child’s visit, a genetics physician will:
- Review patient and family medical histories
- Physically examine your child
- Discuss findings with you and recommend possible tests and next steps
We work with insurance providers and genetic testing labs to identify the most appropriate, cost-effective tests for your child. Our goal is to provide you with all the necessary information for you to make the most informed decisions about your child’s care.
When we receive the results of genetic testing, we will call or schedule a visit to discuss test results and what they mean for your family.
Locations near you
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111 Colchester Avenue
Main Campus, East Pavilion, Level 4
Burlington, VT 05401-1473
