Children's Hospital Boston

Overview

Children's Hospital Boston (CHB) is an internationally recognized 300 bed pediatric hospital with a full range of medical and surgical specialties as well as a major research program. Training in medical genetics is provided through the Division of Genetics in the Department of Medicine. The division occupies 11,684 square feet of research space in the Enders Research Building, with clinical offices on the tenth floor of the Fegan Ambulatory Building. The Clinical Genetics Program provides services in genetic diagnosis of both postnatal and fetal patients, genetic counseling, and diagnosis and management of inborn errors of metabolism. The major emphasis of the program is on pediatric genetics, although residents participate in the care of families through all stages of life, including evaluation of the fetal patient through the Advanced Fetal Care Center, and genetic counseling and care of adults with genetic diseases. The Metabolism program in particular cares for a large number of adults with inborn errors of metabolism due to the fact that many children identified by newborn screening are now of adult age and the expertise needed for management of these rare conditions is not widely available.

The inpatient consultation service sees patients for diagnosis, counseling, or management of genetic and/or metabolic disease at the request of the attending physicians in the hospital. In addition, the medical genetics residents and attendings supervise the metabolic management of patients with inborn errors of metabolism admitted on the inpatient units. Approximately 30-40 inpatient consultations are seen per month and residents will follow 10-15 patients at any given time in the course of evaluation or treatment. The inpatient consult service consists of a resident and an attending physician who round together at least once per day.

Sources and types of consultations are:

  1. Newborns: Residents see patients in the newborn nurseries and neonatal intensive care units at Children's Hospital, Beth Israel-Deaconess Hospital, and Brigham and Women's Hospital. Newborns are seen with congenital anomalies, single gene disorders, and inborn errors of metabolism.
  2. Medical and Surgical services: Patients are seen on all of the inpatient medical and surgical services for consultation. These include inpatient general medicine and subspecialty units for all age levels, as well as Cardiology, Neurology, General Surgery, Cardiac Surgery, Neurosurgery, Orthopaedics, and the Transplant service.
  3. Intensive Care Units: Consultations are provided on both the medical and surgical intensive care units.

While on the inpatient consultation service, the resident will be responsible for all calls to the service Monday through Friday, including Monday through Thursday nights. Weekend call from Friday night through Monday morning is provided by first and second year residents and an attending on a rotating basis.

 

Outpatient clinics

Outpatient clinics are held every day. Wednesday mornings are reserved for teaching and morbidity and mortality conferences, and journal club. Residents participate in general genetics clinics on Monday and Wednesday afternoons, metabolism clinics on Tuesday and Thursday mornings, and subspecialty clinics on Monday and Friday mornings.

  • Genetics Clinic: Patients are seen for diagnosis of congenital anomaly syndromes, mental retardation, or single gene disorders, referred both from other clinics at the hospital and from outside physicians.
  • Metabolism Clinic: The Metabolism clinic is a multi-disciplinary program that includes physicians, nutritionists, social workers, and psychologists. Patients with a wide range of metabolic disorders are seen, including amino and organic acids disorders, fatty acid oxidations defects, urea cycle disorders, peroxisomal disorders, lysosomal storage diseases, and disorders of energy metabolism. This clinic is the major referral site for newborns in Eastern Massachusetts diagnosed by the New England Newborn Screening Program. The resident is expected to see new patients and follow established patients, supervised by attending physicians. The resident will be involved in all aspects of the outpatient and occasional inpatient metabolic management.
  • Specialty clinics: Specialty clinics are held for Neurofibromatosis, skeletal dysplasias, cardiac genetics, and craniofacial disorders. Residents are expected to attend specialty clinics once a week.