This position enhances the diagnosis, medical arrangement and emotional adjustment of patients and families with genetics disorders and congenital anomalies.

1. 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.
2. 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.
3. 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.
4. Performs miscellaneous job related duties as requested.

Mission

To advance hope, healing and the best healthcare for children and their families

Vision

Phoenix Children's will be the leading pediatric health system in the Southwest, nationally recognized for exceptional care, innovative research and advanced medical education.

We realize this vision by:

• Offering the most comprehensive care across ages, communities and specialties
• Investing in innovative research, including emerging treatments, tools and technologies
• Advancing education and training to shape the next generation of clinical leaders
• Advocating for the health and well-being of children and families

Values

• We place children and families at the center of all we do
• We deliver exceptional care, every day and in every way
• We collaborate with colleagues, partners and communities to amplify our impact
• We set the standards of pediatric healthcare today, and innovate for the future
• We are accountable for making the highest quality care accessible and affordable