Advanced Practice Registered Nurse - Human Genetics - Full Time

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Advanced Practice Registered Nurse

Human Genetics

Full Time

The Advanced Practice Registered Nurse (H) (APRN) delivers medical care to a wide variety of patients. The APRN also examines and treats patients independently and in autonomous collaboration with other health care professionals. Ensures proper illness and injury care and disease prevention, diagnosis, treatment, and recovery. May prescribe medications and order diagnostic tests. Advises patients about continuing care.  

JOB FUNCTIONS

• Is a medical care provider to primarily newborn screen genetic patients (infants and sometimes their siblings and parents, if needed) using independent discretion and judgment 

• Is as a medical care provider to patients with other genetic or metabolic disorders using independent discretion and judgment 

• Covers for other departmental nurse practitioners and/or clinical fellow(s) when they are out on leave (vacation, sick time, etc) 

• Supervise other members of the NBS team, as directed by NBS Medical Director  

Primary Duties and Responsibilities:  

• Coordinates newborn screening (NBS) cases  

• Initial clinical evaluation of infants with positive NBS – This may be done in the clinic, emergency department, or inpatient hospital setting, depending on the diagnosis 

• Coordinates the follow-up of abnormal newborn screens  

• Collects any necessary information to complete the FL DOH case file 

• Shares at-home call for consults and NBS some nights and weekends – as needed and directed by Program Director and Clinical Chief 

• Performs sample collection (including blood draws, urine bags, buccal swabs, and skin biopsy) in clinic for newborns and older patients, as needed 

• Evaluates and diagnoses new patients referred to UM/JMH Genetics 

• Provides long-term follow-up to diagnosed patients at JMH/UM Genetics clinics (including satellite clinics)  

• Manages clinical care for NBS/metabolic patients admitted to the hospital  

• Provide cross-coverage for the Metabolic and JMH APRN as needed 

• Annual or Q2 year review of NBS Diagnostic Work-Up algorithms and Emergency Letters with updated management recommendations 

• Performs and documents complete physical examinations and comprehensive health histories.  

• Functions independently to perform age-appropriate history and physical for patients. 

• Orders and interprets diagnostic and therapeutic tests relative to patient’s age-specific needs. 

• Prescribes appropriate pharmacologic and non-pharmacologic treatment modalities 

• Implements interventions to support the patient to regain or maintain physiologic stability.