Children's Hospital 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 Medical Genetics. 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 Outpatient Building.

Clinical Staff

The clinical staff at Children's Hospital includes seven American Board of Medical Genetics Certified physicians and two board certified genetic counselors.

Children's Hospital also has a molecular genetics and a biochemical genetics diagnostic laboratory onsite.

Organization of Program

Each resident spends six months at Children’s Hospital during the first year, in two three month blocks. Residents will alternate coverage of the inpatient consultation service and the outpatient genetics clinics.

INPATIENT CONSULTATION SERVICE

The inpatient consultation service sees patients for diagnosis, counseling, or management of genetic disease at the request of attending physicians and residents in the hospital. In addition, the resident on the inpatient service is responsible for rounding on patients followed by the genetics service who are hospitalized for acute illness. Approximately 30 new patients are seen per month; at any time a resident will follow 5-10 patients in the course of work-up or treatment. The consult service consists of a resident and an attending geneticist who round together at least once per day. Sources and types of consultations are listed below:

• Newborns: Residents see patients in the newborn nurseries at Children's Hospital, Beth Israel Deaconess Medical Center, and Brigham and Women's Hospital. Newborns are seen with congenital anomalies, single gene disorders, and inborn errors of metabolism.
• Medical Service: Patients are seen on the infant and toddler, school age, and adolescent services, as well as neurology, oncology, transplantation, and cardiology.
• Intensive Care Unit: There are two intensive care units, one for medical patients and one for surgical and cardiac patients.
• Surgical Services: There are separate services for cardiac surgery, orthopedics, neurosurgery, and general surgery.

Residents on the inpatient service are 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 physician on a rotating schedule.

OUTPATIENT CLINICS

Outpatient clinics are held every day. Residents participate in a general genetics clinic on Monday afternoon, Tuesday afternoon, Thursday afternoon, and Friday morning, and metabolism clinics Monday and Thursday mornings.

• Genetics Clinic: Individuals evaluated in the Medical Genetics Clinic are primarily referred for diagnosis of genetic syndromes or diseases and assessment of recurrence risk and prenatal diagnostic options. Long-term management issues are generally addressed by other physicians or programs, in particular, the Coordinated Care Service, a service of the Division of General Pediatrics. However, some patients are intermittently followed in the Genetics clinics. These include patients with known diagnoses who are returning for yearly follow-up appointments to receive any updated information regarding their condition, or those patients who do not yet have a specific diagnosis who return yearly for re-consultation.
• Metabolism Clinic: Metabolism Clinic is held on Tuesdays and on Thursday mornings. This is a multidisciplinary program that includes physicians, nutritionists, social workers, and psychologists. Patients with a wide range of metabolic disorders are seen, including amino and organic acid disorders, fatty acid oxidation 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 Regional Newborn Screening Program. Residents are expected to see new patients and follow established patients, supervised by attending physicians. The metabolism service follows over 150 patients who have severe metabolic disorders prone to occasional metabolic crisis. First year residents assume responsibility for these patients, serving as the primary contact at Children’s Hospital for these patients, their families, and their primary care providers.
• Specialty Clinics: Outpatient clinics are held in genetics and metabolism and there are specialty clinics for neurofibromatosis, Smith-Lemli-0pitz syndrome, and skeletal dysplasias.

CLINIC SCHEDULE