Medical Genetics

Clinics

General Genetics Clinic

Pediatric genetics focuses on the evaluation, diagnosis, and treatment of genetic causes of disease in children and adolescents. This clinic involves evaluating patients for dysmorphic features, metabolic conditions, and heritable syndromes. Additionally, we see individuals with personal or family histories of cancer as well as individuals with known mutations in the family. Genetic providers can include geneticists (physicians), nurse practitioners, genetic counselors, and dietitians. These team members work together in an evaluation that often consists of patient history, family history, physical exam, and genetic testing. Finding a genetic cause can allow planning for the child’s current and future needs.

Genetic Counseling Clinic

Our genetic counseling clinic primarily serves to provide genetic counseling to patients and families for new diagnoses of genetic conditions and/or positive genetic test results. During this visit, patients and families meet with a genetic counselor, either in person or via telehome, to review test results and the features, causes, inheritance, recurrence, and management recommendations associated with the new diagnosis. The provider also discusses the psychosocial implications of the diagnosis for the patient and family as well as provides available resources. Additionally, the genetic counselor obtains and assesses the patient’s medical and family history to evaluate if any further workup is warranted. If further workup is indicated, the genetic counselor facilitates the process of scheduling the patient to have a separate appointment with another genetic provider.

22q11 Clinic

22q11.2 deletion syndrome, also known as DiGeorge syndrome or Velocardiofacial syndrome, is a medical condition caused by a small missing piece (called a deletion) on one of the long arms of chromosome #22. 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, genetics, audiology, ENT, allergy/immunology, child development, speech, and social work.

Craniofacial Clinic

We have a cleft team that sees patients with cleft lip and/or cleft palate, and we have a craniofacial team that sees patients with craniosynostosis and other birth defects involving the head and neck. Members of the teams include plastic surgery, oral-maxillofacial surgery, speech therapy, audiology, dentistry, genetics, psychology, social work, ENT (cleft team only), and neurosurgery (craniofacial team only). The role of genetics is to 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. The cleft team clinic is every 1^st and 3^rd Wednesday morning, and the craniofacial team clinic is every 1^st Wednesday afternoon.

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. Our team distinguishes between metabolic consults and general genetics consults. For general genetics consults, we have a unique approach that has been published.

Our nurse practitioner works together with the on-call geneticist using asynchronous telemedicine for chart review including patient photographs to evaluate the patient and make recommendations for evaluation and management to the primary team. If the family is available, the consult team will obtain a family history to aid in recommendations. Genetic counseling is available for inpatient consults as needed.

Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center’s solution | Journal of Perinatology (nature.com)

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 nurse practitioner, and metabolic dietitians. Our metabolic dietitians provide 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.

The metabolic dietitians evaluate patients' current nutritional status, obtain nutrition history from patients/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.

Prenatal clinic

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 coordinate prenatal diagnostic genetic testing including karyotype analysis, microarray analysis, multi-gene panels, and whole exome sequencing (WES).

Patients are seen by a genetic counselor for prenatal and preconception counseling on Mondays, Tuesdays, Wednesdays, and Thursdays 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.