22q11.2 deletion syndrome, also known as DiGeorge syndrome or Velocardiofacial (Schprintzen) syndrome, is a medical condition caused by a small, missing piece (called a deletion) on one of the #22 chromosomes. Patients with this diagnosis have a variety of medical and developmental concerns, and our multidisciplinary clinic was built to provide patients a comprehensive annual review in one morning of clinic.
Medical specialties in the 22q clinic include general pediatrics, cardiology, genetics, audiology, allergy/immunology, child development, neuropsychology, endocrinology, and speech. A genetic counselor is present at these clinics to educate families about the syndrome and to coordinate patient management.
About 5-10% of all cancer is hereditary, which means it is due to inherited changes in the genes. There are approximately 15-20 known cancer predisposition syndromes, and individuals with these conditions often have very high risks of cancer and have cancer at younger ages than average.
In our genetics clinic, we see individuals with personal or family histories of cancer as well as individuals with known mutations in the family. We obtain and interpret personal and family history in the context of cancer genetics. We provide educational counseling about the genetic contribution to cancer and the specific predisposition syndromes in question. We facilitate decision-making for genetic testing, coordinate the testing and results disclosure, and explain the implications of the results. We also help individuals share their test results and information with their family members.
The craniofacial team sees patients with birth defects involving the head and neck, such as cleft lip, cleft palate, underdevelopment of one part of the face (hemifacial microsomia), and syndromes affecting the facial bones (Treacher-Collins syndrome).
Members of the team include plastic surgery, oral-maxillofacial surgery, speech therapy, audiology, dentistry, genetics, psychology, and social work. The genetics providers assess patients for possible syndromes that may have caused the birth defect and to provide families with information regarding other health-related issues and risks for future children to have the same condition.
Our infusion services are available for patients that have been diagnosed with particular genetic disorders. Our infusions consist of Enzyme Replacement Therapy (ERT). Enzyme Replacement Therapy is available for patients with certain lysosomal diseases. ERT works to lessen the symptoms of the lysosomal disease and increase the concentration of the deficient enzyme.
ERT can be administered at UMMC in our outpatient infusion center at the Children's Cancer Clinic, or we can coordinate care for the patient to receive ERT at home or at a local infusion center. Most ERT is administered weekly or biweekly.
Inpatient consult service
An inpatient genetics consult is called when the primary care team requests assistance in diagnosis or management of a known or suspected genetic condition. The on-call geneticist and a genetic counselor will evaluate the patient and make recommendations for evaluation and management to the primary team.
To aid in our recommendations, the consult team will obtain a family history at the bedside if the family is available or by phone if family is not present. Our team will counsel the family regarding our thoughts and recommendations and will schedule the patient in our hospital follow-up clinic to review test results and make a plan for further testing if indicated.
Medical nutrition therapy
Our metabolic genetics and nutrition clinic offers children and adults comprehensive evaluation and compassionate care for more than 25 inherited metabolic disorders (IMD). Our team consists of a metabolic geneticist, a metabolic dietitian, and a nurse practitioner. Our metabolic dietitian provides individualized plans of dietary treatment for our patients who have been diagnosed with an inborn error of metabolism. This includes disorders of amino acid, intermediary, fat and carbohydrate metabolism.
In our clinic, the dietitian will evaluate the patient's current nutritional status, obtain nutrition history from patient/parents, and develop dietary treatment plans by correlating blood levels with intake of target nutrients. In addition, extensive nutrition education and counseling during routine outpatient visits, including hands on diet and formula preparation instructions are provided.
We provide comprehensive preconception and prenatal genetic counseling services for numerous indications. These include, but are not limited to, advanced maternal and paternal age, family history of genetic disease, abnormal maternal serum screening and non-invasive prenatal screening results, pregnancies with congenital birth defects, recurrent pregnancy loss, and other high-risk indications. We also assist other prenatal providers in the coordination of prenatal genetic testing, including prenatal chromosomal microarray and pan-ethnic carrier screening.
Patients are seen by a genetic counselor for prenatal and preconception counseling Tuesdays, Wednesdays and Fridays at the Center for Maternal and Fetal Care. Genetic counselors are a part of the University Center for Fetal Medicine multidisciplinary team that coordinates care for more complex prenatal patients. They play an integral role in the coordinated care of high-risk pregnancies both before and after delivery.