This position enhances the diagnosis, medical management and emotional adjustment of patients and families with genetic disorders and congenital anomalies.
- Family-Centered care that focuses on the need of the child first and values the family as an important member of the care team
- Excellence in clinical care, service and communication
- Collaborative within our institution and with others who share our mission and goals
- Leadership that set the standard for pediatric health care today and innovations of the future
- Accountability to our patients, community and each other for providing the best in the most cost-effective way.
- Assists medical geneticists in diagnostic visits for a wide range of genetic and metabolic conditions. Conducts counseling sessions for pediatric and adult cases, explaining basic principles of genetics, diagnoses, inheritance patterns, recurrence risks, diagnostic and molecular testing, and management of genetic conditions. Obtains detailed family, pregnancy, medical, and developmental histories.
- Participates in multidisciplinary specialty clinics, including metabolic, spina bifida, neurofibromatosis, tuberous sclerosis, and sickle cell anemia clinic. Coordinates patient visit by reviewing and preparing patient histories prior to patient visit. Provides follow-up support, community resources, and literature to families.
- Coordinates the follow-up of patient visits by obtaining additional diagnostic information/records and facilitates genetic testing and the delivery of those test results. Coordinates the care and enzyme replacement therapy for patients with Lysosomal Storage Diseases and Mucopolysaccharidoses.
- Performs miscellaneous job related duties as requested.