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Pediatric Metabolic/Genetic Specialist

Pediatric Metabolic/Genetic Specialist

Basic Function

Provides specialized clinical services to JHAH patients for the diagnosis and management of patients with genetic/metabolic diseases.


The Pediatric Metabolic/Genetic Specialist is a staff member of the Pediatrics Department and provides clinical care and consultative services to inpatient and outpatients with genetic/metabolic disease issues.  May provide care for patients above the age of 14 as clinically appropriate and the provider has sufficient expertise by virtue of their medical training or experience. Cover General Pediatric Service as needed. Reports to the Unit Head of Pediatric Specialty, Unit Head and the Chair of Women & Child Health Institute.

Principal Contacts

Has daily contact with patients, family members, staff, nurses, allied health professionals, administrators and physicians.

Principal Duties

  1. Provides person-centered care and consultations to inpatients and outpatients in the area of expertise
  2. Provides diagnostic and therapeutic procedures in accordance with the highest standards of care and within the delineation of privileges as recommended by the Chief of the Division, and approved by the JHAH Credentialing and Privileging Committee.
  3. Completes all medical documentation and reports in a timely and professional manner.
  4. Develops collegial relationships and works collaboratively other physicians, nurses, allied health providers, and administrators across departments and districts at JHAH. Actively participates as a member of multi-disciplinary teams and is a team player.
  5. Shares in the on call responsibilities according to operational need.  Responds to emergency requests for assistance from the emergency rooms at all JHAH facilities.
  6. Actively participates in the monthly Unit, Division, Department and Hospital staff, clinical, education and research meetings.
  7. Contributes to the educational activities of the Division, by attending Grand Rounds, Journal Clubs and fosters the education or professional development of trainees or other health care professionals.
  8. Participates in interdisciplinary, interdepartmental and performance and quality improvement activities including committee service within JHAH.
  9. Promptly responds to all JHAH queries regarding medical documentation, coding, patient concerns, or risk management.
  10. Participates in the development and implementation of administrative policies, medical practice procedures, clinical guidelines, and standard operating procedures.


Three to five years’ experience in the field of Pediatric Genetic/Metabolic Disease post board.


Certifications/Other requirements as applicable

  • Excellent command of verbal and written English.
  • Ability to adjust to group practice in a medical environment.
  • Professional conduct as a medical expert.


6. Person-Centered Care
2. Documentation
5. Health Care Safety
1. Clinical Expertise
4. Health Care Reliability
7. Cybersecurity
3. Health Care Quality