Department of Genetics

The Department of Genetics provides genetics education and training to students, health professionals, researchers and the public, including graduate education (Ph.D., M.D./Ph.D., genetic counseling), medical student preclinical and clinical teaching, residency training in all medical genetic disciplines, postdoctoral research, training in all ABMG specialties and continuing education for health providers.  Back to Education main page


 

 

 

Overview

Welcome to the Medical Genetics Residency Training Program at the University of Alabama at Birmingham.  In this two year program you will have the opportunity to train in all the various areas that comprise modern medical genetics.  These include a wide variety of clinical experiences in pediatric, adult, prenatal, cancer & biochemical genetics, and clinical laboratories (biochemical, molecular, and cytogenetics).  There is also ample didactic education and opportunities for clinical and laboratory based research.


 

Application Eligibility

  1. U.S. medical graduates must obtain an unrestricted Alabama medical license by the end of the seventh month of postgraduate year two. International Medical Graduates must obtain 1) a limited Alabama medical license by the end of the seventh month of postgraduate year two AND 2) an unrestricted Alabama medical license by the end of the seventh month of the postgraduate year four.
  2. Graduates of medical schools outside the United States and Canada must possess a currently valid certificate from the Educational Commission for Foreign Medical Graduates (ECFMG), or have a full unrestricted license to practice medicine in the US licensing jurisdiction in which they are training.

 

Application Process (Please review the eligibility criteria before submitting an application)

For each training track, applicants will submit the following written materials::

  • Application Form
  • Personal statement addressing training goals
  • Curriculum vitae
  • Documentation of eligibility for medical license in the United States
  • Three letters of reference, including one from previous training program director (if applicable)

 

How And Where To Apply

 
Categorical Medical Genetics Residency

Applicants must have completed two (2) years in an ACGME-approved primary residency. Applicants should apply through Nathaniel H. Robin, MD, c/o Sandra Pilkington (spilkinton@genetics.uab.edu ) , Medical Genetics residency program director.

Maternal-Fetal Medicine-Medical Genetics combined fellowship/residency position

Applicants must have completed a residency in Ob-Gyn.
Applicants should apply through John Owen, MD, fellowship director in the Division of Maternal Fetal Medicine at johnowen@uab.edu .

Pediatrics-Medical Genetics combined residency position
Applicants may enter at the first postgraduate year level (internship), or they may apply during their internship year in Pediatrics. Applicants should apply through Michele Nichols, MD, Pediatrics residency program director at mkhn@uab.edu .
Internal Medicine-Medical Genetics combined residency position

Applicants may enter at the first postgraduate year level (internship), or they may apply during their internship year in Internal Medicine. Applicants should apply through Gustavo Heudebert, MD, Internal Medicine residency program director at gustavo@uab.edu .

Admission Procedure (Based on ACGME Requirements)

  1. Once completed, each candidate’s application packet will be reviewed by Dr. Robin.
  2. Select candidates will be invited for interviews with members of the Genetics faculty.
  3. Dr. Robin and the members of the admissions committee will then make a decision on acceptance based on the interviews and application packet.

Residency Schedule

Overview:

Medical genetics clinical training is accomplished through resident’s active participation at a variety of general and subspecialty clinics, coverage of the consultation service, exposure to the clinical laboratories, and completion of readings for each rotation. These experiences occur during the first 18 months of the 2-year genetics residency training program, with the final 6 months dedicated to research activities. Through participation in these rotations the resident will be exposed to the spectrum of genetic evaluation, testing, diagnosis, counseling, and management of genetic diseases; gain an appreciation for the natural history of genetic disorders and the value of multidisciplinary clinics in the management of genetic disease.

The UAB Medical Genetics Residency Training Program’s clinical rotations are carried out in designated 1-3 month blocks. In Year 1 there are two 3-month blocks designated as “Inpatient/Consultation”, and 6 one month blocks designated as “Outpatient”. The first 6 months of Year 2 consists of three clinical laboratory rotations (cytogenetics, molecular genomics, and biochemical genetics), with the second half consisting of a 6-month block for research activities. While patient care responsibilities are the focus of Year 1, the resident will continue to be engaged in patient care activities in Year 2 by maintaining a regular 2 ½ days per month resident’s clinic; clinical elective rotations; participating in the metabolism service during the biochemical genetics laboratory rotation; regular on-call responsibilities.

A sample rotation schedule is provided below

Year One
Jul - Sep
Oct - Dec
Jan - Mar
Apr- Jun
Out Patient I Inpatient/Consults I Out Patient II Inpatient/Consults II
  • General Genetics
  • Prenatal Genetics
  • General Genetics
  • TCH clinics (Cleft/Craniofacial; Bone)
  • Cancer Genetics
  • General Genetics
  • Prenatal/Cancer Genetics
  • TCH clinics (Cleft/Craniofacial; Bone)
Resident's genetics clinic (two 1/2 days per month)

 

Year Two
Jul
Aug
Sept
Oct - Nov
Nov - Dec
Jan - Jun
Cytogenetics Lab Medical Genomics Lab Elective Biochemical Lab Elective Research
Resident's Genetics Clinic (two 1/2 days per month)

 

Working Hours, Vacation and Leave

 

Elective

Two months are designated as clinical elective time. These can be used for a variety pursuits, but they must be clinical, not research, activities. The resident must discuss the proposed use of elective time with the Program Director at least 2 months in advance of the rotation.

Appropriate use of elective time:
Elective time can be used in a variety of ways. It can be used to supplement areas in which the resident feels less confident . For example, the resident could chose to spend an additional month in pediatric, cancer, metabolism, or prenatal genetics, or some combination thereof. (Note: a resident may be asked to do this if the program director feels that the resident needs the additional educational time in a specific clinical discipline to reach a high level of competence.

Other examples of the use of elective time include:
The resident can design a time during which they attend a variety of clinics to which they may have limited or no exposure during their scheduled rotations. Other examples include prenatal pathology, adult genetics (cardiovascular, lipid, and adult cystic fibrosis), and neurogenetics (muscular dystrophy, cerebral palsy, Huntington disease clinics).
The resident can spend additional time in any of the clinical laboratories. This must be done with the permission of the laboratory director.

Away electives (rotations at other institutions) are permitted. The Program Director must be notified in advance (~6 months) of the start of the proposed elective, and permission must be granted in writing for this rotation to count towards the resident’s required clinical training. The rotation must satisfy a clinical interest that is either not represented at UAB or there must be another compelling reason to do this. The resident must make all the necessary arrangements for this elective, and is responsible for the cost (travel, housing, etc.).

 

On-Call Duty Hours And Responsibilities

During the 1st year regular working hours are generally ~8:00 a.m. to 5:00 p.m., Monday through Friday.  However, it is expected that the resident will spend time outside these hours reading, reviewing patient records, and working on clinic notes. Later in the year, other activities, such as writing manuscripts, preparing presentations and research are expected as well.  Each resident is on-call 6 months of year 1 of genetics training, in two 3-month blocks (see above). Responsibilities of the on-call resident include: staffing all requests for inpatient consultation, including the clinical genetics and metabolism services*; answering phone consultations; attending the specialty clinics at The Children’s Hospital of Alabama (TCH) (Cleft, Craniofacial, and Bone Disorders). The responsibilities of the inpatient service take precedence to attending these clinics. In addition, while on the consultation rotation the resident should attend pediatric morning report, which is held each weekday at 7:45AM in the physician’s dining room on the first floor of TCH.
(*Note: during the months when there is a 2nd year resident on biochemical genetics rotation, the 2nd year resident will take first call on metabolism consults in the hospital and by phone. The 1st year resident should make every effort to participate in these consults, however.)

The on-call resident will take call from home during evenings and weekends for inpatient consultations or to answer questions from referring physicians, and is required to be available by pager 24 hours/day, 7 days/week (respond to a page within 15 minutes and get to TCH or UAB Hospital within 1 hour). There is an on-call attending available for both clinical genetics and metabolism services 24/7 as well, and all after-hours calls must be discussed with the on-call attending. An attending physician will typically accompany the resident to consultations. A resident may switch on-call responsibilities (e.g., weekend coverage) with other residents with approval and notification of the on-call attending. While on the consultation service, the resident is guaranteed every other weekend and one night per week off duty. That time will be covered by other residents in Year 1 and 2, or the on-call attending (if there is no second resident or they are not available).

 

On-call responsibilities when not on consult rotation:
During the 18 months when not on the consultation service, a resident will take call one weekend night (2 per month in Year 1, 1 per month in Year 2), and one weekend per month.


Patient log:
During their clinical months, the resident is required to maintain a log of their patients that includes the information required by the ABMG in their application for certification. The format for the patient log book can be found at the American Board of Medical Genetics’ web page – www.abmg.org

 

 

Clinical Training

It is a primary goal of The UAB Medical Genetics Residency Training Program that a resident, regardless of long-term career goals, learns the clinical skills needed to be an accomplished practitioner of medical genetics. This includes extensive hands-on experience in clinical genetics, learning how to obtain information by taking a personal and family medical history, performing a detailed physical exam, ordering appropriate laboratory tests, interpreting the results, and synthesizing these into a unified plan. Other skills that will be obtained include carrying out treatment for select disorders, conducting clinical and/or laboratory-based research, writing manuscripts and research grants, organizing and delivering lectures and seminars to a wide variety of groups, and obtaining information about the specialty of medical genetics. A broad spectrum of clinical cases, conferences, and readings will cover general medical genetics, dysmorphology and teratology, metabolism, adult genetics, cancer genetics, neurogenetics, prenatal screening and diagnosis, and molecular, biochemical, and cytogenetics laboratory technology.

Residents are supervised by an attending genetics physician during all patient encounters. The attending is actively involved in the patient care, and is present during the main portion of the interaction. For some situations, such as some prenatal visits, the resident is supervised by the genetic counselor, and the attending is available in-house.

Clinical skills are gained during the clinical rotations described below.There are details for each rotation In Goal and Requirement or Policy Manual . The resident should be familiar with these, and review them prior to each rotation.

 

 

Clinical Faculty

  Nathaniel H. Robin, M.D.
Clinical Genetics
Director, Medical Genetics Residency Program
  Bruce R. Korf, M.D., Ph.D.
Clinical Genetics
Chair, Department of Genetics
Director, Medical Genomics Laboratory
  Lisa Guay-Woodford, M.D.
Vice Chair for Research
Director, Inherited Renal Disorders Clinic
  Maria Descartes, M.D.
Clinical Genetics and Metabolism
  Andrew Carroll, Ph.D.
Director, Cytogenetics Laboratory
  Ludwine Messiaen, Ph.D.
Director, Medical Genomics Laboratory
  Paula Cosper, Ph.D.
Director, Prenatal Cytogenetics Laboratory
  S. Lane Rutledge, M.D.
Metabolism
Director, Clinical Genetics Services
  R. Lynn Holt, M.S., C.G.C.
Genetic Counselor
Director, Genetics Counseling Training Program
  Edward J. Lose, M.D.
Clinical Genetics
  Fady Mikail, M.D., Ph.D.
Assistant Director, Postnatal Cytogenetics Laboratory
  Sandra Prucka, MS, CGC
Genetic Counselor
Director, Genetic Counseling Services
  J. Daniel Sharer, Ph.D.
Director, Biochemical Genetics Laboratory

 

 

Policy Manual

You can view the full manual (including all the information about this program) in Adobe PDF format. If you wish to download it to your desktop, right click on the link below. Go to "save as" and choice the location of where you want the file to be saved.

Manual

If you do not have have a PDF viewer please go to here and download Adobe Acrobat Reader.

Contact

Sandra Pilkinton
University of Alabama at Birmingham
Department of Genetics
Kaul 210, 720 20th Street South
Birmingham, AL 35294
Phone: (205) 975-6867
Fax: (205) 975-6390
Email: spilkinton@genetics.uab.edu