About the Division of Genetics and Metabolism

Dr. Powell and patient 2
Dr. Cindy Powell

Clinical genetics is the field of medicine concerned with evaluating genetic changes that influence growth, development, and health. Genes act as our body’s instruction manual and determine familial traits such as eye color, blood type, and susceptibility to health issues. Changes to our genes, called mutations, can disrupt normal growth and development and may cause birth defects, developmental delay, growth problems, and many other medical issues. These genetic changes can be inherited or they can occur for the first time in an individual.

The Division of Pediatric Genetics and Metabolism provides evaluation for the diagnosis, management, and genetic counseling of genetic conditions in children and adults with known or suspected features influenced by genetic factors. These include birth defects, developmental delay and intellectual disability, hearing and vision loss, seizures, growth issues (short or tall stature, large or small head size, weight issues), remarkable family history, inborn errors of metabolism (defects in the processes by which substances in the body are synthesized and broken down), and many other single gene conditions or chromosomal anomalies.

A genetic evaluation and counseling session is designed to:

  • Confirm, diagnose, or rule out a genetic condition
  • Interpret and communicate information about the disorder
  • Provide recommendations for appropriate medical management
  • Provide information about testing options
  • Discuss recurrence chances
  • Determine if other relatives are at risk for the disorder
  • Provide support to families
  • Help refer families to appropriate community services

Examples of individuals who may be referred to a genetics clinic include those who are affected with or have a family history of:

  • One or more birth defects such as a cleft lip, cleft palate, or congenital heart defect
  • Short stature or other unique physical characteristics
  • Conditions known to be caused by altered genes such as phenylketonuria (PKU), muscular dystrophy, skeletal dysplasia, and other connective tissue disorders
  • Chromosome abnormalities like Down Syndrome
  • Intellectual disability, autism, or learning disabilities
  • Hearing or vision loss
  • Babies with an abnormal newborn metabolic screen or older individuals with a known or suspected metabolic disorder

Other Clinical Genetics for Providers and Patients

UNC Reproductive Genetics Clinic
phone: 984-974-6094

UNC Cancer and Adult Genetics Clinic
phone: 919-843-8724
fax: 919-966-4151