Medical Biochemical Genetics | Fellowship | Genetics Subspecialty Fellowship

Overview

The Medical Biochemical Genetics Subspecialty Fellowship at St. Louis Children’s Hospital, part of the Barnes Jewish Hospital Consortium/Washington University School of Medicine, is an integrated and progressive educational experience that provides the formal instruction and clinical training necessary to develop an academic career in Medical Biochemical Genetics. This subspecialty is available only to licensed physicians who are Board-certified or Board-eligible by the ABMGG as clinical geneticists. As an academically- based program, physicians who complete our program are expected to engage in evaluation, prevention, treatment, and discovery of diseases due to genetic defects in human biochemical processes. They also are expected to engage in scholarly pursuit to expanding the knowledge of biochemical genetics. Graduates will be equipped with the essential skills to be leaders in the field of biochemical genetics. Acquisition of these abilities and skills will provide the basis for board eligibility in Medical Biochemical Genetics by the American Board of Medical Genetics and Genomics.


Clinical Experience

The Genetics service at St. Louis Children's Hospital has a large and diverse population of patients with inborn errors of metabolism and evaluate hundreds of abnormal newborn screen results; both provide an excellent resource for training in Medical Biochemical Genetics. During this 12 month of the subspecialty fellowship program, fellows will receive a rigorous education and clinical training in medical biochemical genetics. Fellows will evaluate both children and adults in the outpatient setting and provide inpatient consultation to a wide variety of patients with inborn errors of metabolism. In addition to clinical rotations, residents will rotate through the biochemical laboratory to gain experience in the methodologies and interpretations of biochemical laboratory studies commonly ordered on patients with metabolic conditions. The biochemical genetics laboratory at St. Louis Children’s Hospital performs thousands of biochemical studies yearly for follow-up and management of clinic patients, inpatient metabolic consultations, as well as abnormal newborn screens. There is a weekly schedule for inpatient rounds, outpatient clinics, didactic lectures and teaching sessions. The fellow is expected to work closely with and supervise genetics residents in the combined pediatrics/genetics program as they learn to diagnose and manage patients with metabolic disorders in both the hospital and outpatient setting. The fellow will work closely with the metabolic dieticians as they discuss diet management with IEMs patients and their families. Later in training, the fellow is expected to assume more responsibility and actively participate in formulating clinical and diet management plans for metabolic disorders. .Fellows will attend the following clinics:

  • General Genetics Clinic (both pediatric and adult patients are seen)
  • Metabolic Management Clinic
  • PKU Clinic
  • Adult PKU clinic

Medical Biochemical Genetics Block Diagram

Month 1 2 3 4 5 6 7 8 9 10 11 12
Site 1 1 1 1 1 1 1 1 1 1 1 1
Rotation Name MS MGL MS MS/V MS MS MS MS/V MS MS MS MS
% Outpatient 50 0 50 50 50 50 50 50 20 20 20 20
% Inpatient 50 0 50 50 50 50 50 50 50 50 50 50
% Laboratory 0 100 0 0 0 0 0 0 0 0 0 0
% Research 0 0 0 0 0 0 0 0 30 30 30 30

Site 1 - St. Louis Children’s Hospital
Rotation Name: MGL- Metabolic Genetics Laboratory; MS- Metabolic Service; V- vacation

Weekly Schedule for the Clinical Rotations

Monday
Pre-round on inpatients, follow-up on any calls from outside physicians over the weekend or calls from parents regarding an ill metabolic patient

9:00 - 10:00 AM Weekly Transition of Care Conference (NWT 9A)
10:30 AM Inpatient rounds with attending medical geneticist and metabolic dietician
12:00 - 1:00 PM Weekly genetics clinic conference (NWT 9A)
1:00 - 2:00 PM Weekly didactic session (clinical lectures) (NWT 9C)
2:00 PM Be available for inpatient consults, newborn screening calls, calls from parents of ill children

Tuesday
Pre-round on inpatients, follow-up on any calls from outside physicians, abnormal newborn screens, any metabolic testing on inpatients, parent calls

9:00 AM Inpatient rounds with attending geneticist and metabolic dietician
10:00 AM Be available for inpatient consults, newborn screening calls, see add-on patients that need follow-up due to an abnormal newborn screen
12:00-1:00 PM Pediatric Case Conference (optional, attend if relevant to biochemical genetics) (Pediatric auditorium, 3rd floor)
1:00 - 2:00 PM Biochemical Genetics Laboratory Sign-Outs
2:00 PM Be available for inpatient consults, newborn screening calls, see add-on patients that need follow-up due to an abnormal newborn screen
4:00-5:00 PM Fellows research conference (Required) (8th floor conference room, MPRB)
5:00 PM Follow-up as needed on inpatients

Wednesday

7:45 - 8:15 AM Residents Report with Chairman (optional)
Humanism in Medicine Series (optional)
Quality Improvement Conference and M&M (once monthly)
Pre-round on inpatients, follow-up on any calls from outside physicians, abnormal newborn screens, calls from parents of ill children
9:00 AM Inpatient rounds with attending geneticist and metabolic dietician
10:00 AM Be available for inpatient consults, newborn screening calls, see add-on patients that need follow-up due to an abnormal newborn screen
1:00 - 5:00 PM Outpatient metabolic clinic
5:00 PM Follow-up as needed on inpatients, newborn screening calls

Thursday
Pre-round on inpatients, follow-up on any calls from outside physicians, abnormal newborn screens, calls from parents of ill children
Inpatient rounds with attending geneticist and metabolic dietician (timing is flexible, depending on the attending and their outpatient clinic time)

8:00 - 12:00 PM Outpatient metabolic clinic
12:00 - 1:00 PM Pediatric Molecular Medicine Series
1:00 - 5:00 PM Outpatient metabolic clinic
5:00 PM Follow-up as needed on inpatients, newborn screening calls, outside doctors, parents

Friday
Pre-round on inpatients, follow-up on any calls from outside physicians, abnormal newborn screens, calls from parents of ill children

9:15-10:15 AM Grand Rounds (Cloptin Auditorium)
10:30 AM Inpatient rounds with attending geneticist and metabolic dietician
12:00 - 1:00 PM All-Resident Conference (Wellness Curriculum)
1:00 - 2:00 PM Biochemical Genetics Laboratory Sign-Outs
2:00 - 5:00 PM Research time
5:00 PM Follow-up as needed on inpatients, newborn screens, calls from outside doctors, parents

Saturday/Sunday
Round on inpatients as needed

Weekly Schedule for the Metabolic Genetics Laboratory Rotation

Monday

8:00 AM-12:00 PM Metabolic Genetics Laboratory
12:00 - 1:00 PM Weekly genetics clinic conference (NWT 9A)
1:00 - 2:00 PM Weekly didactic session (clinical lectures) (NWT 9C)
2:00 – 5:00 PM Metabolic Genetics Laboratory

Tuesday

8:00 AM-12:00 PM Metabolic Genetics Laboratory
12:00-1:00 PM Pediatric Case Conference (optional, attend if relevant to biochemical genetics) (Pediatric auditorium, 3rd floor)
1:00 - 2:00 PM Metabolic Genetics Laboratory Sign-Outs
2:00 – 4:00 PM Metabolic Genetics Laboratory
4:00 - 5:00 PM Fellows research conference (Required) (8th floor conference room, MPRB)

Wednesday

8:00 AM -5:00 PM Metabolic Genetics Laboratory

Thursday

8:00 AM-12:00 PM Metabolic Genetics Laboratory
12:00 - 1:00 PM Pediatric Molecular Medicine Series
1:00-5:00 PM Metabolic Genetics Laboratory

Friday

8:00 – 9:00 AM Metabolic Genetics Laboratory
9:15 - 10:15 AM Grand Rounds (Cloptin Auditorium)
10:30 AM – 1:00 PM Metabolic Genetics Laboratory
1:00 - 2:00 PM Metabolic Genetics Laboratory Sign-Outs
2:00 - 5:00 PM Metabolic Genetics Laboratory

Saturday/Sunday
No clinical duties


Conferences and Seminars

Genetics Case Conference (Mondays 12-1 PM)
Metabolic/Genetics Didactic Lecture Series (Mondays 1-2 PM)
Pediatric Case Conferences (Tuesdays and Fridays 12-12:45 PM)
Resident/Fellows Early in Research Conference (Tuesdays 4-5 PM)
Genetics Seminar Series (Thursdays at 12-1 PM)
Pediatric Grand Rounds (Fridays at 9:15-10:15 AM)

Residents also have the opportunity to attend many seminars and workshops sponsored by Washington University School of Medicine, giving them the opportunity to hear well-known researchers and clinicians from around the world.


Research Experience

The rich research environment at Washington University School of Medicine opens multiple opportunities for the fellow to perform clinical and basic science projects related to inborn errors of metabolism. Our program supports fellows to participate in scholarly activities and fellows are expected to participate in a basic or clinical research project of their choice during the training program. The project may be clinical, laboratory-based or a project focused on informatics and data mining. Thirty percent of the time during the last 4 months of the one-year fellowship is devoted to research; although the resident may start his/her project before this block of time. During the first 6 months of the fellowship, fellows work with the Program Director and the Director of the Division of Genetics and Genomic Medicine to identify a mentor for their research project. Fellows will have the opportunity to meet with a variety of researchers and clinicians to identify the appropriate laboratory or clinical project of interest to them. Medical Biochemical Genetics fellows have the option to work with researchers in any of the basic science or the biochemical genetics laboratory at the Washington University School of Medicine. Clinical studies are supported by an NIH-funded Clinical Research Center and biostatistics and epidemiology resources. More information about research opportunities may be found Washington University School of Medicine website.


Additional Requirements for Fellowship Training

Each fellow is required to present scholarly research (poster, platform presentation) at one national or regional metabolic meeting sometime during the 1-year accredited training program. The presentation may be related to the research project the fellow selects. Examples of other acceptable presentations that fulfill this requirement include an interesting clinical case of inborn error of metabolism, a review of patients with a specific metabolic condition or a case series of patients with novel inborn error of metabolism or atypical presentation of a known metabolic disorder. Fellows are also expected to present their research at the Tuesday “Early in Research” seminars in the Department of Pediatrics. Finally, fellows also present at the Annual Pediatric Research Retreat, which is held at the St. Louis Zoo every spring.


Quality Control and Patient Safety

All fellows are required to have training in quality control and patient safety. Didactic lectures, seminars, and workshops are available to facilitate this training. In addition, each fellow is expected to participate in a project related to this topic. Examples of acceptable projects include:

  • Review of inpatient management of acutely ill patients with metabolic disorders
  • Review of outpatient management of ill patients with metabolic disorders
  • Review of ICU management of hyperammonemia and outcomes
  • Review of confirmatory testing protocols for babies with abnormal newborn screens

National Meetings and Courses/Workshops

Funding is available for fellows to attend one national metabolic or related meeting of their choice each year. In addition, the Division of Genetics and Genomic Medicine pays for fellows to attend the one-week course sponsored each October by the Society for Inherited Metabolic Disorders / North American Metabolic Academy (SIDM NAMA).


Application Process

Applications for the Medical Biochemical Genetics Fellowship are accepted through emails or letters. Selected applicants will be invited to visit St. Louis to meet our faculty and residents/fellows and to see St. Louis Children’s Hospital and the Barnes Jewish Hospital complex at Washington University. Only applicants who are Board-certified or Board-eligible by the ABMGG as clinical geneticists should apply. Applicants are required to submit a personal statement, three letters of recommendation, and an updated resume.


Contact

For more information on the Medical Genetics Residency Program, please contact:

Dr. Marwan Shinawi, MD
Program Director, Medical Biochemical Genetics Fellowship Program
mshinawi@wustl.edu
or
Dru Nelson, Program Coordinator,
314-454-2863 or nelson_d@wustl.edu
Campus Box 8116, 9th FL NWT
1 Children’s Place
St. Louis, MO 63110

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One Brookings Drive, St. Louis, MO 63130