Boston Children’s Hospital | Massachusetts General Hospital | Brigham Women’s Hospital

Medical Biochemical Genetics Fellowship Program

The One-Year Medical Biochemical Genetics Training Program is designed for physicians who have completed training in Clinical Genetics. The program is accredited by the Accreditation Council for Graduate Medical Education (ACGME). Fellows work in inpatient and outpatient settings at our affiliated hospitals: Boston Children’s Hospital, Massachusetts General Hospital, Brigham and Women’s Hospital, and Beth Israel Deaconess Medical Center.

The program offers trainees the opportunity to gain foundational knowledge and expertise in the following areas:

  • clinical, biochemical and molecular features of biochemical genetic disorders
  • treatments specific for biochemical genetic disorders
  • laboratory analysis (amino acids, organic acids, acylcarnitines)
  • biochemical features that determine the diagnosis in specific biochemical genetic disorders
  • newborn screening methodologies for metabolic disorders
  • newborn screening for analyte abnormalities associated with biochemical genetic disorders
  • ethical issues of newborn screening
  • communicating biochemical genetic findings to referring physicians
  • research in biochemical genetics

The successful completion of the Medical Biochemical Genetics Training Program prepares trainees for certification by The American Board of Medical Genetics and Genomics.

Laboratory Training and Fellowship Programs

We offer two ACGME- or ABMGG – accredited laboratory-based programs: the two-year Laboratory Genetics and Genomics Training Program, and the one-year Clinical Biochemical Laboratory Training Program.

Laboratory Genetics and Genomics Training Program

The goal of this program is to train laboratory directors and to develop leaders in the diagnostic genetics community who are capable of providing integrated interpretations for genomic testing methodologies. The Laboratory Genetics and Genomics Training Program is a laboratory-based program that integrates both clinical molecular genetics and cytogenetics in a two-year program. A third year is optional and may be added at the discretion of the Program Director, or at the request of a trainee.

Trainees will acquire the necessary skills to analyze and interpret human constitutional (germline) and somatic genetic and genomic changes. This includes acquiring the technical skills and foundational knowledge necessary to perform testing and to interpret chromosomal aberrations, genomic copy number variations, as well as changes in DNA sequence and DNA methylation. Trainees will rotate through various clinical laboratories, including those specializing in clinical cytogenetics, molecular and biochemical genetic testing. Fellows work in the laboratories of the Brigham and Women’s Hospital and the Laboratory for Molecular Medicine.

The program provides the expertise necessary for successful trainees to qualify for a position as a Laboratory Director. The successful completion of the Laboratory Genetics Training Program qualifies trainees for certification by The American Board of Medical Genetics and Genomics  (ABMGG).

Clinical Biochemical Laboratory Training Program

The One-Year Medical Biochemical Laboratory Training Program is designed for physicians who have completed training in Medical Clinical Genetics. The Two-year Clinical Biochemical Genetics Program is for individuals with a PhD, MD/PhD or MD degree. Individuals who have completed training in other American Board of Medical Genetics and Genomics (ABMGG) laboratory programs may only require a one-year training. Both physicians and non-physician fellows develop expertise in the technical aspects of analyses for a diagnostic biochemical genetics laboratory, including: test development, quality control and quality assurance, as well as supervisory roles.

Two laboratories are associated with the Clinical Biochemical Genetics Training Program: the Children’s Hospital Metabolic Laboratory, and the New England Newborn Screening Program.

The program offers trainees the opportunity to gain foundational knowledge and technical skills in the following areas:

  • clinical, biochemical and molecular features of biochemical genetic disorders
  • treatments specific for biochemical genetic disorders
  • laboratory analysis (amino acids, organic acids, acylcarnitines)
  • biochemical features that determine the diagnosis in specific biochemical genetic disorders
  • newborn screening methodologies for metabolic disorders
  • newborn screening for analyte abnormalities associated with biochemical genetic disorders
  • ethical issues of newborn screening
  • communicating biochemical genetic findings to referring physicians
  • research in biochemical genetics

The program provides the expertise necessary for successful trainees to qualify for a position as a Laboratory Director. The successful completion of the Medical Biochemical Genetics Training Program prepares trainees for certification by The American Board of Medical Genetics and Genomics.

Learn More About Specialty Training in Genetics >