Pediatric Genetics

Metabolic Clinic/PKU

• to recognize the symptoms of inherited metabolic disorders (IMD) and PKU in medical emergency situations
• to know what screening/testing a PCP should order for IMD patients in emergency situations
• to interpret results of biochemical and metabolic testing

Prenatal Diagnosis Clinic

• to learn the differential diagnosis of abnormalities detected by prenatal ultrasound
• to understand the implications of maternal serum screening tests results and indications for further testing
• to learn what prenatal techniques and at what gestational age are appropriate to address the parents' concerns
• to be able to accept and support all parental decisions regarding the management of an abnormal fetus

Cancer and Adult Genetic Clinic

• to understand the hereditary bases of familial cancers and adult genetic, cardiac and endocrine disorders
• to learn the clinical variability of cancer syndromes
• to gain the current knowledge regarding diagnostic and pre-symptomatic molecular testing in hereditary cancer families, including the psychosocial considerations
• to understand the indications, benefits and potential harm of testing

Hemophilia Clinic

• to learn the genetic mechanisms involved in bleeding disorders
• to understand the burden of these disorders, the natural histories and treatment modalities
• to be able to provide genetic counseling and order carrier testing

Neurofibromatosis/RASopathy:

• approved Children’s Tumor Foundation Center clinic
• to learn the current diagnostic criteria for NF and TSC
• to understand the natural history and indications for available interventions
• to know the status of molecular testing for these conditions

Muscular Dystrophy Clinic

• to recognize the phenotypes of the hereditary neuromuscular disorders
• to understand the genetic bases of these disorders
• to become familiar with the available molecular and other diagnostic and carrier testing

Cleft Palate Clinic

• to differentiate isolated facial cleft from syndromes associates with clefts

Sickle Cell Clinic

• to learn the phenotypes and genetic bases of hemoglobinopathies

Velocardiofacial Clinic

• to learn the spectrum of concerns for this disorder

Cystic Fibrosis Clinic

• to learn about the burden of the disorder and prevention of complications and treatment modalities

During the regular daytime hours, residents are notified of each request for consult. The resident is the first to respond to the consult.

On call genetic faculty call residents during the off-hours anytime there is a consult for a rare condition or if it has significant educational value for other reasons.

Goals and Objectives of Rotations:

1. To see at least 100 patients annually.
2. To be exposed to the greatest possible variety of genetic disorders.
3. To have the opportunity to appreciate the phenotypic variability of these disorders.
4. To gain competency for diagnosing genetic diseases, including the recognition of the physical features, clinical variability and natural history, all of which will help to formulate a differential diagnosis.
5. To understand the benefits and limitations of diagnostic tests; indications for ordering the tests and interpretation of test results.
6. To gain competency to understand management choices for the patients, including medical as well as ethical and psychosocial considerations.
7. To develop counseling skills allowing them to interact with the family and provide genetic counseling in a sensitive, individualized, professional manner.
8. To be comfortable communicating the impressions and recommendations from patient evaluations to other health professionals.

Immediately upon entering the program, the resident will be expected to complete a short self-study online module that will allow them to learn or review basic biology, Mendelian genetics, and molecular genetics. This will ensure that the resident possesses sufficient background knowledge to be successful in the "Translational Genetics" course that the resident will complete during the fall semester. This course will provide an overview of clinical genetics, current genetics technologies available in research and clinical practice, and will encourage the resident, through a course-long final project, to work to utilize new technologies in developing new tests and therapies.

The second semester "Clinical Genetics" course will be entirely based on patient care and will focus on practical, psychosocial, and ethical issues in the field of clinical genetics. This course will be given in alternate years so it will be completed during the second semester of either their first or second year.

Educational Objectives

1. To acquire the basic science knowledge in all areas of genetics and learn to apply it to specific clinical situations.
2. To be exposed to presentations given by local and nationally known scientists; to gain the most current scientific information; to learn how to/not to structure a presentation; to establish professional contacts with nationally known scientists for possible future scientific collaboration.

The residents are assigned a 2-month rotation encompassing the following clinical diagnostic genetic laboratories:

1. Cytogenetics Laboratory
2. Molecular Genetics Laboratory
3. Biochemical Genetics Laboratory

Sequencing and Bioinformatics

Introduction to laboratory technique, bioinformatic resources, databases and molecular clinical tools needed for research rotation.

Goals and Education Objectives

1. To understand the diagnostic techniques used at the laboratory.
2. To learn the advantages and limitations of each test.
3. To learn what specimens are used for each test.
4. To interpret the clinical significance of the test results, the need for further testing to clarify any ambiguity or further define an abnormality.

Note: The objective is NOT to be proficient in performing the tests.

Each resident will be involved in a clinical or bench research project resulting in some form of peer review project ( i.e. meeting poster, abstract or case report). The chosen project has to have a realistic chance to produce publishable results before the completion of residency.

Goals and Educational Objectives

1. To learn research methodology.
2. To learn an approach to a clinical research study.
3. To learn about Informed Consent and IRB approval process.
4. To learn how to evaluate the results, including the utilization of statistical methods.
5. To experience writing and the submission of an abstract to a national meeting.
6. To experience writing and submitting a manuscript.

Goals and Objectives for Training

The primary objective is to train a physician in medical genetics so that he/she can function independently as a subspecialist in this field. At the end of the training the resident trainee should have acquired enough training, expertise, and experience to pursue an academic or clinical career. Two basic necessities emphasized for this training program are clinical care and research. Each of these components is given equal importance during the two years of training.

Clinical
Outpatient and inpatient care is an integral part of medical genetics training. In both years 1 and 2, the resident will be assigned to six months of inpatient and outpatient pediatric medical genetics primarily based at CHW. There will also be a 2-month rotation that includes Prenatal, Fetal Concerns, and Adult Cancer Genetics. Residents will present the patients after they have made their own independent assessment and developed a plan of action. Residents will also be responsible to present their patients at the weekly patient care conference.

Research – Clinical or Laboratory
The resident’s research experience begins in the first year and continues to progress in a meaningful way. Residents will learn how to select a research project and a mentor. A Research Methods Workshop is offered and those interested in clinical research are encouraged to take the course. Residents will meet biannually with the oversight committee to review the progress of their research project. Residents will spend six months in the laboratory of their choosing during the second year of their medical genetics residency.

Weekly Conferences

• Small group discussions with faculty, fellows, residents and students
• Patient care conferences with multidisciplinary teams
• Clinical Case Conference
• Metabolic Staffing

Monthly Conferences

• NF/RASopathy Staffing and Radiology Rounds
• Genetics Radiology Rounds
• Lab Case Conference
• Maternal Fetal Medicine
• Neurooncology
• Tumor Board
• Joint Fellows Curriculum
• Journal Club

Evaluations

Residents
In addition to self-evaluations, performance is evaluated after each learning experience by the Program Director as well as other members of the medical genetics section. Twice annually a summary evaluation is conducted based upon compiled data received from faculty and staff evaluations.

Program
Residents meet annually and participate in a confidential group interview where strengths of program as well as areas for improvement are gathered and disseminated to the Program Director.