Pediatric Genetics and Metabolism

Specialized Pediatric Genetics Care in North Texas

Medical genetics is the branch of medicine concerned with how hereditary factors cause diseases, including birth defects, developmental disabilities, and problems with the body’s metabolism. Genetic diseases know no boundaries by age, sex, race, or country of origin, although many serious and potentially treatable genetic diseases first appear in childhood.

Even with normal prenatal testing using techniques such as amniocentesis, there is still a 3 to 4 percent chance that a child will be born with a genetically defined health problem. New, comprehensive testing approaches are better than ever at pinpointing the genetic cause of these diseases, and ongoing research at UT Southwestern and elsewhere is increasing the number of genetic diseases responsive to treatment. 

Our Genetics Clinic at Children’s Health provides comprehensive evaluation, testing and treatment for known or suspected genetic disorders. Our approach integrates the latest diagnostic techniques with family history analysis, dietary management, psychosocial support services, case management, and genetic counseling for recurrence risks and related questions. Because we function within a tertiary care pediatric center, our patients have the benefit of local consultation with a broad team of collaborating specialists.

We accept referrals from all pediatricians and children's hospitals in the Dallas-Fort Worth area and beyond. We also accept referrals from the Texas Department of Health's Newborn Screening Program for biochemical disorders.

Metabolic Disease Clinic

The specialized Metabolic Disease Clinic offers evaluation and testing for children with known or suspected inborn errors of metabolism (IEM). IEMs are a family of hundreds of rare diseases caused by mutations in the genes that allow the body to produce energy and grow. We are a regional center of excellence for metabolic diseases.

In addition to establishing diagnosis through blood, urine, enzyme, and DNA analysis, we counsel and educate families about these conditions, and optimize therapy tailored to each child. Patients with a confirmed diagnosis are provided with nutritional evaluation, genetic counseling, and a psychosocial assessment as well as long-term care.

We are also a major referral center for the Texas Newborn Screening Program, which seeks to identify newborns with any of 30 treatable diseases, many of which are genetic/metabolic in nature. A large percentage of the nearly 400,000 babies born in Texas each year are evaluated by our team. When a baby in North Texas is found to have a metabolic abnormality on the newborn screen, the family is referred to us for definitive diagnosis, treatment, and long-term care if necessary. Through this program, more than 75 children with genetic metabolic diseases are identified each year, and the coordinated care of these children by the Metabolic Disease Clinic at Children’s Health significantly improves their development and survival.

Learn more about the Metabolic Clinic at Children’s Health and the care we provide.

Genetics/Dysmorphology Clinic

Children with birth defects, developmental delay or mental retardation, or other known or suspected genetic disorders, receive evaluation and testing in our Genetics/Dysmorphology Clinic. In this clinic, we provide chromosomal and DNA analysis for the diagnosis of genetic disease, as well as psychosocial assessment, counseling, and comprehensive case management with referral to medical specialists, community resources, and support groups.

We also provide family history analysis and risk counseling to discuss reproductive options, through a team of board-certified genetic counselors. We also provide counseling services and care coordination for children diagnosed with Down Syndrome.

Learn more about the Genetics Clinic at Children’s Health and the care we provide.

Genomic Testing

Genetics clinicians and researchers at UT Southwestern recognize the positive potential of genetic and genomic testing in personalized medicine and presymptomatic disease management. We also understand that results of all such testing are complex and may have medical, psychological, social, and financial implications for patients and research subjects.

We agree with the policies of the American College of Medical Genetics and Genomics regarding genetic and genomic sequencing. As with all other aspects of medical testing performed through our team, genetic information obtained through sequencing results is considered a confidential component of the medical record, and will not be used for research or any other purpose without consent of the patient.

Research Programs and Clinical Trials

Our physicians and scientists are actively engaged in research and innovation. The Genetic and Metabolic Disease Program in the Children’s Research Institute at UT Southwestern uses the latest innovative approaches to discover new disease-causing mutations and treatments for genetic diseases in children. Current clinical trials focus on a number of critical areas in pediatric health, expanding treatment options, and redefining what is possible in pediatric medicine.