We provide comprehensive genetics services to children and adults with, or at risk for, genetic conditions. Our team consists of Medical Geneticists, Genetic Counselors and Metabolic Dietitians. We are open 8 a.m. – 5 p.m. weekdays and are located in the Hillcrest Directions PDF on the hospital’s main campus.
Our Medical Geneticists specialize in diagnosing and managing patients with genetic conditions. Each patient/family has the opportunity to meet with a Genetic Counselor to discuss the condition, testing options, insurance questions and implications of the diagnosis for other family members. The Metabolic Dieticians work with patients with metabolic conditions that require dietary modifications. We also work closely with the Pediatric Supportive Care Team for patients and families dealing with difficult diagnoses. The Genetic Counselors also work closely with the Cystic Fibrosis Clinic and Maternal Fetal Medicine department to offer patients multi-disciplinary specialists in one clinic visit.
Clinics & Counseling
Genetic Counseling services are available to a wide range of patients. This includes pre-conceptional and/prenatal genetic counseling when there is a family history of a known or suspected genetic syndrome. Prenatal genetic counseling is also available for individuals interested in carrier screening, those identified to have ultrasound anomalies, abnormal genetic screening results and individuals with a family history of a genetic disorder.
This is done in coordination with the OSF Perinatology Group. Genetic counseling is also available to patients with a family history of a possible hereditary cancer syndrome, such as hereditary breast and ovarian cancer. Genetic counselors also work with the cystic fibrosis clinic to provide genetic counseling to those families.
Metabolic Genetics Clinic
Children and adults with metabolic disorders, such as Phenylketonuria (PKU), are seen in this clinic for treatment and management. In addition, newborns with abnormal newborn screening for metabolic disorders are seen in this clinic for diagnostic testing and treatment if a diagnosis is confirmed.
General Genetics Clinic
Children and adults with known genetic syndromes are seen in this clinic for management and follow-up. Common syndromes seen include Down syndrome, Neurofibromatosis 1 and Marfan syndrome.
In addition, children and adults are referred to this clinic for diagnostic testing when a genetic syndrome is suspected. Common reasons for referral include birth defects, developmental delays and autism.
Testing & Diagnostics
Rapid Whole Genomic Sequencing
Rapid whole genomic sequencing offers a more effective process for diagnosing and treating critically ill infants with unexplained illnesses. Test results are typically available in less than three days.
Jennifer Burton, MS, CGC