Medical Biochemical Genetics Fellowship
Curriculum

Curriculum Goals

The goal of the medical biochemical genetics experience is to learn about the diagnosis, genetic counseling, and management of patients with the full range of inborn errors of metabolism. The focus is on clinical care and management, and fellows will hone their skills at recognizing clinical findings and patterns of clinical and laboratory findings that point to inborn errors of metabolism. Further, they will become proficient at recognizing early warning signs of change in clinical status in patients with established diagnoses so that more severe metabolic decompensation can be avoided. As part of this experience, fellows will learn the principles that underlie common analytical procedures such as amino acid, organic acid, and acylcarnitine analyses both by observation in the laboratory and by regular involvement with the interpretation process throughout the fellowship training. During this fellowship the resident will develop the necessary knowledge base and skills to interpret and confirm newborn screening tests, accurately and compassionately counsel families during the process of confirmatory testing, and provide high quality management of those disorders. The fellow will be an integral part of our Metabolic Service that provides hospital care, consultation and outpatient care to individuals with inborn errors of metabolism.

Curriculum Summary

The fellowship program is located at Seattle Children’s Hospital (SCH), along with the Biochemical Genetics Laboratory (BGL) at SCH, and the University of Washington Medical Center with the support of the Department of Pediatrics at the University of Washington School of Medicine. The “Biochemical Genetics Service” provides inpatient care and consultation, outpatient care and consultation, and telephone consultative services to physicians in Washington State and the WWAMI Region (Washington, Wyoming, Alaska, Montana, and Idaho) and other areas in the Pacific Northwest and around the nation. Fellows spend one full year in clinical (patient-care oriented) activities, of which one full month will be spent in the BGL laboratory becoming familiar with the analytical methods used and developing an understanding of the implications of methods and analytical processes on clinical interpretation and application. The remaining training time will be spent caring for individuals with suspected or documented inborn errors of metabolism, both inpatients and outpatients. During that time the trainee is expected to be involved in academic activities, including teaching students and residents, preparing and presenting formal presentations, preparing a publication, and taking part in the clinical research activities of the Biochemical Genetics Service.

Curriculum Scheduling

Year 1 Requirements:

Activity # of participating months Day of week Frequency/month ½-day or full day
BCG Clinic 11 Tue, Thurs, Fri. 7 – 14 1/2
CHDD/LSD 11 1st Tuesday 1 1/2
CHDD/PKU 11 3rd Wednesday 1 Full
CHDD Metabolic 10 1st Thursday 1 1/2
BCG Laboratory 1 Mon – Fri 23 Full

Additionally, fellows will have weekly time dedicated to learning/teaching, education, and research as well as the option to pursue Elective rotations throughout the hospital. 

Curriculum Objectives

Inborn Errors of Metabolism

  1. Evaluation and diagnosis of patients with suspected inborn errors of metabolism
  2. Developing and applying a specific diagnostic and management plan for individuals with abnormal newborn screens ordering appropriate tests for the clinical situation
  3. Accurately interpreting biochemical screening and diagnostic test results, with awareness of important artifacts and sources of metabolites
  4. Acute and chronic medical and nutritional care of individuals with IEMs
  5. Effectively communicating recommendations and follow-up plans to patients, families and referring physicians
  6. Working with, and when appropriate leading, teams of healthcare providers in the management of acutely ill children with IEMs
  7. Prescribing and managing enzyme replacement therapy for IEMs
  8. Skin biopsy for fibroblast culture and diagnostic testing

Phenylketonuria Unit

  1. Evaluation and diagnosis of patients with suspected Phenylketonuria
  2. Developing and applying a specific diagnostic and management plan for individuals with abnormal newborn screens ordering appropriate tests for the clinical situation
  3. Accurately interpreting biochemical screening and diagnostic test results, with awareness of important artifacts and sources of metabolites
  4. Acute and chronic medical and nutritional care of individuals with Phenylketonuria
  5. Effectively communicating recommendations and follow-up plans to patients, families and referring physicians
  6. Working with, and when appropriate leading, teams of healthcare providers in the management of acutely ill children with Phenylketonuria
  7. Prescribing and managing enzyme replacement therapy for Phenylketonuria
  8. Skin biopsy for fibroblast culture and diagnostic testing

Lysosomal Disorders

  1. Evaluation and diagnosis of patients with suspected Lysosomal Disorders
  2. Developing and applying a specific diagnostic and management plan for individuals with abnormal newborn screens ordering appropriate tests for the clinical situation
  3. Accurately interpreting biochemical screening and diagnostic test results, with awareness of important artifacts and sources of metabolites
  4. Acute and chronic medical and nutritional care of individuals with Lysosomal Disorders
  5. Effectively communicating recommendations and follow-up plans to patients, families and referring physicians
  6. Working with, and when appropriate leading, teams of healthcare providers in the management of acutely ill children with Lysosomal Disorders
  7. Prescribing and managing enzyme replacement therapy for Lysosomal Disorders
  8. Skin biopsy for fibroblast culture and diagnostic testing

Biochemical Genetics Laboratory

  1. To develop well-rounded medical providers able to accurately collect and interpret medical and social information, and use that information to formulate and implement appropriate management plans, provide accurate genetic and medical counseling, and initiate preventive services
  2. Learn to use the best available information and tools to develop and implement patient care plans
  3. To develop life-long self-learning skills to complement the body of knowledge acquired during formal training in basic science and to develop analytical thinking skills and investigative techniques
  4. To encourage and nurture the development of sensitive physicians who are effective listeners, emotionally and intellectually supportive of patients and peers, and able to develop therapeutic relationships with patients.
  5. To train physicians with the skills and attitudes to respond to a rapidly changing field, able to keep up with scientific advances and advances in ethical delivery of genetic health care
  6. To develop healthy and caring approaches to delivering ethically sound medical care, to be a good colleague, and to maintain sensitivity to cultural, age, gender and disability issues in patient care and interaction with peers.
  7. To train physicians who understand the role of their practice within the larger healthcare delivery system, are able to practice cost-effective care, and are advocates for their patients within the healthcare system

Elective Curriculum Objectives (Optional, based on prior training)

NICU

During the NICU elective rotation, the Medical Biochemical Genetics Fellow should have the following goals and objectives as they relate to the care of a child with an IEM:

  1. To observe and become familiar with medical care of the critically ill newborn, including principles of medication administration, access, nutrition, and airway support.
  2. To develop a knowledge base and resource base for future learning in neonatal-perinatal medicine.
  3. To learn to recognize unique disorders and co-morbidities in the prenatal infant that may influence the care of the newborn with an IEM.
  4. Understand important patient and family care issues that may impact the newborn as they relate to the newborn with an IEM.
  5. Develop at least one topic or hypothesis where care of the infant with an IEM may be improved when they are admitted to the NICU.
  6. Present an IEM topic in an education session for the NICU care team and residents.

PICU

During the PICU elective rotation, the Medical Biochemical Genetics Fellow should have the following goals and objectives as they relate to the care of a child with an IEM:

  1. To observe and become familiar with medical care of the critically ill child, including principles of medication administration, access, nutrition, and airway support.
  2. To develop a knowledge base and resource base for future learning in pediatric critical care medicine.
  3. To learn to recognize unique disorders and co-morbidities in the prenatal infant that may influence the care of the child with an IEM.
  4. Understand important patient and family care issues that may impact the child as they relate to the child with an IEM.
  5. Develop at least one topic or hypothesis where care of the child with an IEM may be improved when they are admitted to the PICU.
  6. Present an IEM topic in an education session for the PICU care team and residents.