The objectives of this rotation are to expose residents to the evaluation, diagnosis and treatment of genetic disorders. During this rotation, trainees have the opportunity to participate in both inpatient and outpatient care. We do not expect residents to become geneticists but do expect that at the end of rotation, they will know when to suspect a genetic disorder and seek genetic consultation.
Key Learning Objectives
- Learn how to systematically evaluate a patient with a suspected genetic disorder.
- Learn how to perform a physical examination with emphasis on detecting dysmorphic features and congenital anomalies.
- Be able to obtain, construct and interpret a three-generation pedigree and know how to use this tool in a clinical practice.
- Be familiar with the steps involved in genetic testing, including pre- and post-test counseling, the informed consent process, sample processing and interpretation of results.
- Learn how to use available online genetic resources in clinical practice.
- Learn the indications for patient referrals for genetic services.
- Be familiar with the management of neonates who have abnormal newborn screening results.
Orientation
Dr. Angela Grochowsky will conduct orientation of the rotation. Please contact Samantha Kisiel to set up this meeting.
Samantha Kisiel, Sr. Administrative Assistant
Division of Medical Genetics and Genomic Medicine-Pediatrics
DD-2205 Medical Center North
samantha.e.kisiel@vumc.org
Clinical Responsibilities
Outpatient Setting
Genetics is primarily an outpatient consultative service. The majority of your responsibility will be evaluation and management of patients in the genetics outpatient clinics (see tentative clinic schedule on VSTAR). Your responsibilities will include evaluation of the patient (including review of past medical records, history and physical exam), generation of a differential diagnosis and management plan, and discussion of the case with the attending physician. Depending on the case, the particular issues and the learning opportunity presented in that case, you may or may not be asked to create a specific encounter note in Star Panel. We expect you to continually improve these skills as the rotation progresses.
Inpatient setting
On the inpatient service, you will have the opportunity to provide care to metabolic and/or genetic patients who are on the general pediatric floor or in the ICUs. In addition, you will be working with the genetic attending on call and nurse practitioners to provide inpatient consults. We provide consultation services for patients at Children's Hospital and Vanderbilt University Hospital. The genetic attendings rotate call on a weekly basis. The rotation is designed for you to learn primarily in the outpatient clinic, and thus as a general rule, outpatient clinics have priority over inpatient consultation. However, if the on-call geneticist feels that there is an interesting inpatient case, he/she will discuss your availability with the clinic attending. Priority will always be given to the case with better learning potential.
Newborn Screening Service
Tennessee has a comprehensive newborn screening (NBS) program and neonates born in Tennessee are screened for more than 60 genetic conditions. If a neonate in middle TN has an abnormal NBS result, the genetics team at Vanderbilt is notified, and the baby is referred for further management. The rotating residents will be required to assist in the management of neonates with abnormal NBS.
Contact information for genetics providers, counselors, and office staff can also be found on VSTAR.
Please contact Angela Grochowsky for questions or guidance about any matter during or after this rotation.