Medical Genetics Rotation

Welcome to Residents, Fellows, and Students

Goals of Medical Genetics rotation
Genetics Staff
Genetics Calendar
Clinics Information & Assignments
Reference List

Goals of the Medical Genetics rotation for residents and medical students

1. Develop a genetics knowledge base.
    a. How to take a genetic history.
    b. How to take a family history and analyze a pedigree.
    c. How to perform and interpret a dysmorphology exam.
    d. Genetics readings - book list, journals, computer searches.
    e. Genetics network - where to refer and where to ask for help.
    f.  Read one recent issue of American Journal of Medical Genetics or other Genetics Journal to learn
        about breadth of medical syndromes.

2. Genetic diagnosis: Solving complex clinical problems.
    a. Collect data - green sheet, medical records. Complete a genetics database green sheet on each patient.
    b. Organize data - problem list.
    c. Literature search - Computer competency in: OMIM; London Dysmorphology Database; Medline; Reprotox.
    d. Diagnostic plan - is there clinical testing available?
    e. Interpretation of genetic laboratory data: cytogenetics, metabolic, molecular
    f. Follow-up.

3. Long term clinical care plans for children with chronic problems.
    a. Team participation in order to understand the roles of genetics counselors, therapists, and education specialists.
    b. Interact with parents.
    c. Interact with other specialists.
    d. Generate a list of resources in Missouri (Regional Centers for the Developmentally Disabled, Early Intervention
        Programs, Genetic Disease Associations - neurofibromatosis, Down Syndrome, etc.)
    e. Learn management protocols for genetic conditions.

4. Genetic Counseling: Learn what counseling entails, techniques and steps.
    a. Recurrence risk assessment.
    b. Options.
    c. Supportive counseling.

5. Develop an appreciation and contribution to the genetics literature (for residents on one month rotations)
    a. Select one case or topic early in the rotation that may be suitable for publication.
    b. Complete a literature review including: texts, journals, computer search, and personal communication.
    c. Consider patient review of the University of Missouri "experience".
    d. Prepare an abstract suitable for submission to a meeting for presentation.
    e. Complete paper for publication, if possible.
    f.  Present discussion of topic in Genetics Monday Rounds.

MEDICAL GENETICS STAFF

Clinical Staff
Judith H. Miles, M.D., Ph.D.
    Clinical Genetics
    Cytogenetics

Richard E. Hillman, M.D.
    Clinical Genetics
    Metabolic Genetics

Stephen R. Braddock, M.D.
    Clinical Genetics
    Dysmorphology
    Teratology

Genetics Counselors/Nurses/Dietitian
Jennifer Kussman, M.S. - Genetic Counselor - Coordinates General Genetics Clinic, Hannibal and Kirksville Genetics Outreach Clinics, H.D. Presymptomatic Testing Program, and Down Syndrome Clinic
Dawn Peck, M.S. - Genetic Counselor - Coordinates Metabolic Genetics Clinic, Versailles & Springfield Outreach Clinic
Robin Troxell, M.S. - Genetic Counselor - Southern Missouri Outreach (Springfield, Poplar Bluff, Rolla)
Janda Bucholz, M.S. - Genetic Counselor - Prenatal Diagnosis & Counseling Coordinator
Donna LeBlanc, R.N., M.S. - Certified Nurse Practioner - Southern Missouri Outreach
Carrie Chou, M.S.. - Coordinator, MO Teratogen Information Service and Missouri Fetal Alcohol Clinic
Cyndy Jones, R.N. - Autism Nurse Clinician & Coordinator
Julie Grasela, R.D. - Metabolic Clinic Dietician

Laboratory/Research
Tim Huang, Ph.D. - Director, Cytogenetics Laboratory/cancer molecular genetics
Dennis Lubahn, Ph.D. - Molecular Biology, Biochemistry
Charlotte Phillips, Ph.D. - Molecular Biology, Biochemistry
Joyce Mitchell, Ph.D. - Director of Information Sciences, Asst Dean
Merribeth Muskopf - Senior technologist, Metabolic Lab
Nicole Takahashi - Autism Research Specialist

Office staff
Diane Kirby - Administrative Assistant, Room NW507
Nayshea Rice - Office Support Staff III, Clinic scheduling and organization, GOAS, files
Kelly Arndt - Administrative Assistant, MSAFP program and prenatal scheduling
Trisha Morris - Autism secretary
Donna Nale - Southern Missouri Regional Genetics Program Outreach

GENETICS CALENDAR

CLINICS INFORMATION AND ASSIGNMENTS: Click here for description of what a genetics patient work up entails.

* Obtain clinic patient assignments for the next week at the Friday 1:00 rounds and prepare by:
   1) reading the available files/charts
   2) reading about the disorder in appropriate Genetics books (not Nelson) which are in the genetics Library
   3) run a medline search and OMIM search and pull at least paper that up dates the information in the text book
   4) make a plan for what needs to be done in clinic for that patient.

* Give your beeper number/home number and schedule to Diane Kirby when you start the rotation so it
  can be posted on Division black board.

* Meet with Dawn Peck on the first day of your rotation for orientation

Clinics
1. Prenatal Diagnosis & Counseling Clinic - Tuesday for counseling only and Wednesday and Friday
    mornings for prenatal counseling with amniocentesis or other procedures. Patients may be scheduled
    throughout the week according to emergency situations.  Overflow patients are scheduled Monday
    mornings.

    a) Attend at least one (if on genetics for one week) counseling appointment with one of the genetic
        counselors to become familiar with genetic history and prenatal diagnosis counseling.

2. Medical Genetics Clinic - Wednesday afternoon and Thursday morning

    a) Clinic for evaluation and follow-up of children and adults with genetic or metabolic diseases,
        dysmorphic features, mental retardation and birth defects.

    b) Work up at least one new patient each week and dictate comprehensive consultation report.
         1. Green chart is given to Nayshea Rice and dictation is put in the transcriptionist work box.
         2. Genetic history must be completed (green form), along with the visit and diagnosis sheet (blue form).
              This information is recorded into the GOAS (Genetics Office Automated System.)
    c) See one to two follow-up patients.

3. Metabolic Clinic - Wednesday with Dr. Hillman, Dawn Peck and Julie Grasela.
    Obtain patient assignment from Dawn Peck.

4. Genetics Outreach Clinic - Every other Wednesday.
    a) Work up one or two new patients and dictate consultation report.
    b) See one or two patients in follow-up.

5. Down Syndrome Clinic - 3rd Thursday afternoon of the month.

6. Cleft Palate Clinic -Third Friday of the month. Students and residents don’t generally attend because
    of time constraints for the evaluations but may observe if approved by Dr. Braddock.

7. FAS Clinic - 4th Friday of the month. Need permission from Dr. Braddock.

8. Autism Clinic - Tuesdays and Thursdays. Genetics and Psychiatric Autism Clinics - Miles, Hillman, Jones.
    Obtain patient assignment from Cyndy Jones

Inpatient Consultations
1. See in-hospital consultations; do family history, dysmorphology exam, and formulate diagnostic plan and
    differential diagnosis. Diane Kirby or one of the counselors will page you with consults as they are received.

2. Review with genetics staff before writing the consultation.

3. Complete blue consult sheet within 24 hours.

4. Complete green sheet on each patient and return to attending with copy of the consult.

Medical Genetics Conferences - Genetics Library
1. Clinical Genetics Rounds - Monday 1:00-3:00 p.m. All staff, residents and students present cases
    evaluated during previous week.

2. Prenatal Counseling Conference - Friday 1:00-2:30 p.m.

3. Pediatric Grand Rounds - Friday 8:15 a.m.

4. Molecular Journal Club - Tuesday, noon - 1:00 pm. Each week a geneticist presents a recent research
    article to the group.

5. X-ray Rounds - 3rd Monday of the month with Dr. Brown in radiology booth. Give patient names and
    numbers to Diane Kirby for each film you want to review by the previous Friday (announced as scheduled).

6. MRI Rounds - 1st Monday of the month with Dr. Vaslow in MRI reading room. Give patient names
    and numbers to Diane Kirby for each film you want to review by the previous Friday (announced as scheduled).

REFERENCE LIST - MEDICAL GENETICS

Clinical Medical Genetics
* Emery & Rimoin (eds): Principles and Practices of Medical Genetics, Churchill- Livingston, 1996, Vol I & II,
  2nd edition. (Excellent, up-to-date coverage of Medical Genetics including basic principles and specific diseases.)

* Gorlin, R., Cohen, M.M., Levin, L.S.: Syndromes of the Head and Neck, Oxford Press, 1990, 3rd edition.

* Gorlin, Toriello, Cohen: Hereditary Hearing Loss and Its Syndromes, Oxford Press, 1995.

* King, Rotter, Motulsky: The Genetic Basis of Common Diseases, Oxford Press, 1992.

* Stevenson, Hall, Goodman (ed): Human Malformations and Related Anomalies, Vol I & II, 1993.
   (Excellent treatise on malformations.)

* Milunski (ed): Genetic Disorders and the Fetus: Diagnosis, Prevention & Treatment, Johns Hopkins Press, 1992,
   3rd edition.

* Jones, Kenneth L.: Recognizable Patterns of Human Malformation, W.B. Saunders, 5th edition, 1997.
   (Clinical handbook of syndromology.)

* McKusick, V.A.: Mendelian Inheritance in Man, Catalogues of Autosomal Dominant, Autosomal Recessive and
   X-Linked Phenotypes, 10th edition, Johns Hopkins Press,1992. (See OMIM on-line)

* Spranger, et al: Bone Dysplasias, An Atlas of Constitutional Disorders of Skeletal Development, W.B. Saunders,
  1978. (still the best handbook, in HSC library and Dr. Miles office)

Basic Genetics
* Thompson & Thompson: Genetics in Medicine, W.B. Saunders, 5th edition, 1991.
   (excellent clinical genetics overview and good book to read cover to cover during rotation.)

* Jorde, Carey, & White: Medical Genetics, Mosby, 1995.
   (excellent overview of clinical genetics, easy to read.)

* Vogel & Motulsky: Human Genetics, Springer-Verlag, 1985, 2nd edition.
   (comprehensive Human Genetics textbook.)

* Mange, A.P. & Mange: Human Genetics Aspects, Sinauer Ass., 1990.

Cytogenetics
* de Grouchy, Jean and Turleau, C.: Clinical Atlas of Human Chromosomes, John Wiley & Sons, 2nd edition, 1984.
   (catalog of chromosomal disorders)

* Gardner, R.J.M., Sutherland, G.R.: Chromosome Abnormalities and Genetic Counseling, Oxford Press, 1989.

* ISCN, An International System for Human Cytogenetic Nomenclature, Cytogenetics and Cell Genetics, 21:6, 1978.

* Sandberg, A. A.: The Chromosomes in Human Cancer & Leukemia, Elsevier, 2nd edition, 1986.

* Heim, S., Mitelman, S.: Cancer Cytogenetics, Alan R. Liss, 1987.

* Thurman, Eva: Human Chromosomes, Structure, Behavior and Effects, Springer-Verlag, 2nd edition, 1986.

Metabolic Genetics
* Adams & Lyon: Neurology of Hereditary Metabolic Disease of Children, McGraw-Hill & Hemisphere Publishing
  Corp., 1982.

* Ampola: Metabolic Diseases in Pediatric Practice, Little, Brown & Company, 1982.

* Scriver, C.R., et al: The Metabolic Basis of Inherited Disease, McGraw-Hill, 6th edition, 1989.

Molecular Genetics
* Ross, D.W.: Introduction to Molecular Medicine, Springer-Verlag, 1992.

* Strachan & Read: Human Molecular Genetics, Wiley-Liss, 1996.
   (Comprehensive Text Book)

Counseling
* Applebaum & Firestein: A Genetic Counseling Casebook, The Free Press, A Division of MacMillan, Inc., 1983.

* Kelly, T.E., Clinical Genetics and Genetic Counseling, Year Book Publishing, 1986.

Journals
*American Journal of Medical Genetics
*Clinical Genetics
*Journal of Medical Genetics
*Clinical Dysmorphology
*American Journal of Human Genetics
*Molecular and Genetic Medicine
*Prenatal Diagnosis
*Birth Defects Research (formerly Teratology)
Human Genetics
Human Heredity
Annals of Human Genetics
Cytogenetics and Cell Genetics
Cancer Genetics and Cytogenetics
Human Molecular Genetics
*Journal of Autism and Developmental Disorders 
 

Computer Software
Ovid Access to Medline, etc.
Robin Winter Dysmorphology Database, OMD
On-Line Mendelian Inheritance in Man: OMIM
*Reprotox Teratology Database
 

* denotes located in Genetics Library (Do not take books or journals out of the genetics library on penalty of rearrangement of your DNA!)

Additional Medical Genetics Schedules are available at our website www.genetics.missouri.edu
 

Back to Genetics Home Page

Division of Medical Genetics
University of Missouri Health Care
One Hospital Drive
Columbia, Missouri  65212
phone: 573-882-6991
fax: 573-884-3543