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Clinical Biochemical Genetics

Introduction

The Biochemical Genetics Laboratory at the Kennedy Krieger Institute is located within the Johns Hopkins medical complex. The laboratory provides training in the diagnosis of inborn errors of amino acid , organic acid, fatty acid, sterol, creatine, and peroxisomal metabolism using a variety of techniques including amino acid analysis by anion exchange chromatography, organic acid analysis by gas chromatography/mass spectrometry, acylcarnitine analysis by tandem mass spectrometry, and sterol analysis by ion ratio gas chromatography/mass spectrometry, as well as numerous staple isotope gas chromatography/mass spectrometry methods. Exposure to the principles of newborn screening is also provided.

Program History

The American Board of Medical Genetics first certified the Clinical Biochemical Genetics Training Program at Johns Hopkins in 1984. George Thomas, PhD directed this program from 1984 until the summer of 2005. Lisa Kratz, PhD is the current laboratory and training program director. 

Training Objectives

  1. Demonstrate proficiency in all aspects of the following methods, including sample preparation, instrument operation  and maintenance, data analysis, result interpretation, and generation of reports.
    1. amino acid analysis in plasma, urine and CSF by ion exchange chromatography
    2. organic acid analysis in urine by gas chromatography/mass spectrometry
    3. carnitine (free/total) and acylcarnitine analysis  by tandem mass spectrometry
    4. organic acid quantification by stable isotope dilution gas chromatography/mass spectrometry
    5. sterol analysis in plasma, amniotic fluid, and tissue by ion ratio gas chromatography/mass spectrometry
    6. evaluation for peroxisomal disorders by various tests, including plasma very long chain fatty acids and red blood cell plasmalogens by gas chromatography and/or gas chromatography/mass spectrometry.
  2. Gain experience in the laboratory diagnosis of inborn errors of amino acid, organic acid, and fatty acid metabolism, cholesterol biosynthesis, creatine biosynthesis and transport, and peroxisome metabolism.   
  3. Demonstrate the ability to direct all phases of a complex testing environment including report preparation and communication of results, laboratory quality control and assurance programs, and proficiency testing and be familiar with laboratory regulatory agency policies and procedures.
  4. Fellows will complete their logbook cases in compliance with the ABMG requirements

Meeting Training Goals

During the first year of training fellows spend the majority of their time participating in all aspects of the clinical laboratory at Kennedy Krieger Institute, including but not limited to: learning laboratory techniques, data analysis and data interpretation. Each fellow is required to attend weekly Chart Review, the Institute of Genetic Medicine (IGM) Journal Club where they will be the presenter at least once during their training, and Clinical Genetics Case Conference where they are expected to present interesting cases regularly. In addition the Fellow attends the monthly IGM Seminar series and the Greenberg Center Clinical Conference, both located at the Johns Hopkins Hospital (JHH) location.  There is an option to do a rotation at the State Newborn Screening Program at the Maryland Department of Health and Mental Hygiene (DHMH) to participate in the usual screening procedures. During the second year of training, in addition to the continued participation in the clinical laboratory meetings and required Case Conference, Journal Clubs, and JHMI Seminars, each fellow takes two graduate level courses: Advanced Topics in Human Genetics and Molecular Mechanism.  A passing grade is required for the Fellow to successfully complete the program.  In addition the Fellow will spend approximately 50% of their laboratory time participating in clinical laboratory testing and 50% of their time performing research. Finally, the Fellows are encouraged to attend the two week, Short Course in Mammalian Genetics at Bar Harbor Maine, in July as well as submit and present at the American Society of Human Genetics, American College of Medical Genetics, or the Society for Inherited Metabolic Disorders scientific meetings.

Obtaining Hands-on Experience

Trainees learn each test/technique by first, observing a staff member who routinely performs the test/technique, then performing the test/technique on quality control and/or previously tested patient samples.  Once the Fellow becomes proficient and obtains approval by the Laboratory Director, they will perform a given test/technique, on patient sample sets periodically throughout their fellowship.  

Supervision

Supervision of all Fellows in the Postdoctoral Clinical Biochemical Genetics Training Program is performed by the Laboratory Training Director, Lisa Kratz, PhD. While in the clinical setting the Fellow is supervised by the clinic Attending.

Initially, Fellows review results of laboratory tests with the laboratory director.  Once the Fellow demonstrates an understanding of data evaluation and interpretation, they interpret the lab data and prepare reports for review by the laboratory director.

Outpatient Genetics Clinic occurs each Monday and Fellows will have an opportunity to attend clinic to observe the process of informed consent, diagnosis (explanation of results and testing), treatment, and follow-up of children and adults with Metabolic Disorders.  Biochemical Genetics fellows with Clinical Genetics training/hospital credentialing will be assigned outpatients in clinic and participate in Metabolism Call under the supervision of the Metabolic Attending. 

In specific instances, the Fellow will communicate results to the ordering physician or patient under the guidance of the laboratory director or patient physician, respectively.

Training in Medical Genetics

Trainees attend educational conferences such as the weekly Clinical Conference and Journal Club.  These meetings are attended by Clinical Geneticists- Laboratory Directors and Clinicians, Genetic Counselors, Genetic Residents, and laboratory technicians.  Furthermore, trainees participate in the week long mini-medical genetics course that occurs during orientation.  This course is taught by genetic counselors and geneticists. In addition, trainees must obtain a passing grade in two graduate level human genetics courses, taught by the genetics faculty.  Finally, Fellows along with Genetic residents attend a monthly luncheon with the Clinical Genetics Residency Director. At this luncheon, trainees discuss interesting cases, career goals and research projects. 

Fellows are also are encouraged to attend a two week rotation in the other Clinical Genetics laboratories at JHU and KKI (Molecular Genetics and Cytogenetics).

Clinical Biochemical Genetics Weekly Schedule

Year One

Monday Tuesday Wednesday Thursday Friday
AM 9:00 Weekly Case Review 9:30 Clinical Genetics Case Conference
10:30 Clinic Chart Review
PM 12:00-1:00 Resident & Fellow Luncheon (monthly) 12:00-1:00 IGM Journal Club 12:00-1:00 Greenberg SKD Conference (monthly)
Outpatient Clinic 1:00 Lab Meeting
2:00-3:00 IGM Seminar Series (monthly)
4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review
100% Clinical Laboratory Actvities

Year Two

Monday Tuesday Wednesday Thursday Friday
AM 9:00 Weekly Case Review 9:30 Clinical Genetics Case Conference
10:30 Clinic Chart Review
PM 12:00-1:00 Resident & Fellow Luncheon (monthly) 12:00-1:00 IGM Journal Club 12:00-1:00 Greenberg SKD Conference (monthly)
Outpatient Clinic 1:00 Lab Meeting
2:00-3:00 IGM Seminar Series (monthly)
4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review 4:00 Data/Report Review
50% Clinical Laboratory Actvities
50% Research Activity