EL Genetics Medical Genetics Elective

Students participate in the diagnosis and management of fetuses, children, and adults with genetic disorders or who are at risk for genetic disorders. Patients will be assigned to students for counseling, diagnostic evaluation, and for presentation at conferences. A laboratory experience in one of our Genetics Laboratories (Cytogenetics, Biochemical, and Molecular Laboratories) will be arranged according to the interest of the student
Twenty hours per week. General Genetics (Monday/Wednesday/Thursday/Friday); Cardiac Genetics Clinic; Cancer Genetics Clinic; Inpatient Consultation Service; Tuesday Journal Club and Genetics Clinical Rounds.

Length of Rotation: 2 or 4 weeks (maximum-2 students)
Scheduling Restriction(s): 12/23/2015 – 01/04/2016
Student’s Class Level: 3rd, 4th, 5th year
Prerequisite(s): N/A

Learning Objectives:

  1. History skills: By the end of the rotation, students will be expected to gather the important information that is needed to obtain a useful genetic history that includes: a. Recognition of single gene disorders causing specific phenotypes; b. Recognition of Congenital malformations and mental retardation; and c. Recognition of disorders of intermediary metabolism involving cardinal symptoms of inborn errors.
  2. Physical examination skills: By the end of the rotation, students will be expected to complete a physical exam resulting in the: a. Recognition of single gene disorders causing specific phenotypes; b. Recognition of Congenital malformations and mental retardation; and c. Recognition of disorders of intermediary metabolism involving cardinal signs of inborn errors.
  3. Knowledge/diagnostic and treatment skills: By the end of the rotation, students will be expected to demonstrate skills for the following:
    Congenital malformations and mental retardation: a. Recognition and assessment of multiple congenital anomalies, with or without mental retardation; b. Effects of major teratogens and mechanisms of teratogenesis; c. Use of cytogenetic& molecular genetic tests to diagnosis congenital malformations and mental retardation; and d. Use of literature to consider single gene disorders.
    Predictive screening for genetic disease:  a. Principles of newborn screening; principles of follow up for abnormal tests; b. Principles of carrier screening for single gene disorders based on ethnic background; c.  Principles of screening for disease pre-disposition;  and d.  Issues in advising patients and parents about the risks and benefits of screening.
    Recognition of single gene disorders causing specific phenotypes:  a. skeletal dysplasias; b. Distinctive dysmorphology or physical findings (e.g. NF, facial dysmorphic syndromes); and c. Major organ abnormalities (renal, cardiac, gi, pulmonary, cns).
    Disorders of intermediary metabolism: a. Principles of acute management of metabolic emergencies; b. Formulation of a differential diagnosis; and c. Principles of long term management of inborn errors.
    Genes and disease: mechanisms of inheritance:  a. Genes and cancer; b. Unusual mechanisms of gene action (trinucleotide repeats, imprinting); and c. Common disorders , e.g. diabetes.
    Use of genetic testing: a. Special issues in genetic testing in children; b. Principles of selecting appropriate genetic tests; and c. Recognition of pitfalls in genetic testing.
  4. Procedural skills. By the end of the rotation, students will be expected to demonstrate skills in management of genetic disease for the following:
    Predictive screening for genetic disease: a. Principles of newborn screening; principles of follow up for abnormal tests; b. Principles of carrier screening for single gene disorders based on ethnic background; c. Principles of screening for disease pre-disposition; and d. Issues in advising patients and parents about the risks and benefits of screening.
  5. Attitude: By the end of the rotation, students will be expected to demonstrate professional responsibility in working as a team member with other members of the care team, patients and families.  The student should exhibit sensitivity to the use of genetic information: a. How novel scientific discoveries can be evaluated in a clinical context; b. Principles of communicating genetic information to parents and families; c. Cultural and social issues in genetic information; d. Problems in confidentiality; e. Delivery of bad news; and f. Use of genetic consultants.
  6. Career/context: By the end of the rotation, students will be expected to know the training/career pathway for Medical Genetics.