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Pediatric Genetics

Responsible faculty: Shivarajan M. Amudhavalli (samudhavalli@cmh.edu)

The Division of Clinical Genetics includes two clinical geneticists/dysmorphologists (Dr. Holly H. Ardinger, Dr. Shivarajan M. Amudhavalli) and one biochemical/clinical geneticist (Dr. Bryce A. Heese).  In addition to the physicians, there are eleven genetic counselors, two metabolic dietitians and a social worker.

Division manager: Susan Hughes, MS, CGC, (sshughes@cmh.edu), (816)-302-3107

Contact person: April Gerry, BS (algerry@cmh.edu), (816) 234-1367

Educational objectives:

  1. Collect a family history and construct a pedigree.

  2. Become familiar with the evaluation of a patient with a suspected genetic condition (syndrome or inborn error of metabolism).

  3. Become familiar with the process of genetic counseling for pediatric and prenatal patients.

  4. Become familiar with expanding newborn screening program.

  5. Learn the management of several common inborn errors of metabolism.

  6. Recognize many common genetic syndromes that are present with dysmorphic features.

  7. Become familiar with how genetic testing is done including karyotyping, CGH array, SNP array, molecular gene testing and biochemical testing.

  8. Learn to interpret and explain a chromosome report.

  9. Become familiar with different types of tests (cytogenetic, molecular and biochemical) used in genetics and be able to give an example of when each type of test might be ordered and what results can indicate

**The rotation includes clinical and laboratory components along with educational conferences. Rotating students, fellows and residents are encouraged to make a case presentation at the end of the rotation.

Elective duration: One month

Format: The purpose of the rotation is to provide a broad overview of the field of medical genetics, including clinical and laboratory experiences. There are a number of different clinics and laboratory opportunities that vary throughout the period of a rotation. Schedules will be individualized to meet the needs and schedule of the rotating medical student, resident or fellow. We request that individuals planning to rotate through the division provide us with any known planned vacation dates or other dates that might interfere with attending clinics. We are aware that availability will be dependent upon call schedules and other clinical duties outside of the division. This information will allow us to prepare a schedule prior to the beginning of the rotation. 

There is a formal Genetics Clinic Conference on Wednesday afternoon from 3-4 p.m. twice a month and a Radiology round with Dr. Neil Mardis on Wednesdays at noon twice a month.

Please note that arrangements will be made for you to rotate through the Cytogenetics, Molecular and Biochemical labs that may conflict with clinic times. If you are scheduled to attend a lab, that takes precedence over the clinic on that day. You may also be asked to participate in off-site prenatal clinics as well as on-site consultations since these are all integral components of a rounded Genetics rotation experience.

Punctuality is expected! Patients can be quite complicated and the evaluation can often be lengthy. It pays to be considerate of the patients and their families.