We offer comprehensive counseling and testing services for couples and families who are planning to have a baby, are pregnant or who have a child with a genetic disorder. Our expert pediatric genetics team provides the full range of genetic testing services for everyone from newborns to adults.
We understand that there are difficult decisions that accompany genetic testing. Our goal is to provide you with the education, counseling and resources necessary to make an informed, educated decision about your or your child's health.
Pediatric Genetics in Burlington, VT
As a university hospital, we practice evidence-based medicine, using the latest research and developments in the field of genetics and genetic testing to inform our care. You can feel confident that you are receiving care from a highly skilled and experienced team.
Our team practices multidisciplinary care. Since genetic conditions can affect many different aspects of the body, we work closely with other specialties to provide the most comprehensive, advanced care possible. We run two multidisciplinary clinics:
- Craniofacial clinic, for children with craniofacial abnormalities (including cleft lip and palate among other disorders)
- Marfan Syndrome clinic, for patients with Marfan syndrome, which affects the heart, eyes, blood vessels and skeleton
We collaborate with many other departments, including:
- Neurology, to help diagnose and manage conditions such as developmental delays and autism
- Cardiology, for children with congenital abnormalities
- Pulmonology, to identify newborns who have increased risk of developing cystic fibrosis
- Hemophilia, working with patients who have blood disorders
Pediatric Genetics: The UVM Medical Center Approach
At the UVM Children's Hospital, your child will benefit from access to the most recent therapies and treatments, as well as a personalized, child-centered approach catered to his or her specific needs. In addition to the work at our clinic, we do outreach all over Vermont. No matter where you live, you can find a UVM Medical Center genetics clinic near you.
We provide the full range of genetic counseling and testing. When you come to The UVM Medical Center, you and your family receive care that is:
The only pediatric geneticist in the state of Vermont is right here at The UVM Medical Center. We see patients from all over Vermont and upstate New York.
Our team members have specialty training in clinical genetics and metabolic conditions. Together, we have more than 30 years of experience counseling and treating patients with genetic disorders.
Our team works with genetics experts around the country and around the world on genetics diagnostics, collaborating to put the latest research into practice.
We work with patients of all ages, from couples considering conception to babies still in the womb to children and adults. We provide personalized counseling and education throughout your entire experience, from initial evaluation to ongoing treatment.
Genetic Conditions We Treat
We treat a wide range of genetic conditions, ranging from more common conditions to ones that are extremely rare. We have the experience, expertise and resources in order to diagnose and treat these conditions. Conditions we treat include:
- Developmental delays and autism
- Inborn errors of metabolism, such as PKU
Genetic Disorders: Services We Provide
Treatment for genetic disorders is highly personalized, depending on your specific condition and general health. Treatment services we provide include:
- Enzyme Replacement Therapy - We are the only health center in Vermont and upstate New York to offer this treatment. The goal of enzyme replacement therapy is to replace the missing enzymes the body needs in order to function properly. For example, in patients with cystic fibrosis, certain digestive enzymes are missing. Enzyme replacement therapy provides the body with the natural enzyme, improving nutrition and digestion.
- Metabolic Clinic - We are th only Metabolic Clinic for the state of Vermont and we follow children and adults with inborn errors of metabolim such as PKU and others. Our multidisciplinary team includes a Clinical Geneticist, a Metabolic Dietician and Genetic Counselors. We work closely with the Vermont Newborn Screen Program to make sure that any babies who are identified through newborn screening receive immediate, appropriate and ongoing care.
Genetic Testing: What to Expect
You may be wondering how a genetic evaluation works. Here's what you can expect:
- You arrange an appointment with our genetics team.
- Before your appointment, one of our genetic counselors calls you to discuss:
- What to expect at the evaluation
- Your questions and concerns
- Your family history
- At your appointment you meet with our genetic physician who will review the history and do a physical examination.
- We discuss the findings of the exam with you and counsel you about possible testing and next steps.
- After testing is completed, we meet with you again to discuss the results and what it means for you and your family.
If you need preconception counseling, our counselors and physician will work with you to understand your options. Our goal is to provide you with all the information possible so you can make the most informed decision.
Contact a member of The UVM Medical Center clinical genetics team at 802-847-4310. Our pediatric genetics team works closely with the Vermont Center for Children, Youth and Families.