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Objectives

  • Given a clinical problem, take an appropriate family history.
  • Given a pedigree, determine the most likely mode of inheritance.
  • Given a disorder, whether Mendelian, chromosomal, or multifactorial in origin, determine the likely risk for other family members.
  • Recognize who might benefit from genetic counseling and provide it if the problem is straightforward, or know to whom to refer patients if the problem is complex.
  • Appreciate how a disease gene is localized, learn the potential benefits of understanding the molecular approach to disease, and appreciate the therapy that can derive from this understanding.
  • Take into account the diversity in genetic makeup as an important factor in preventive health care, diagnosis and treatment.
  • Reduce unnecessary exposure to known and potential physical and chemical mutagenic, teratogenic, and carcinogenic agents.
  • Recognize how environment can affect phenotype.
  • Identify ethical dilemmas in providing genetic services.

Medical Genetics

"Just as our present knowledge and practice of medicine relies on a sophisticated knowledge of human anatomy, physiology, and biochemistry, so will dealing with disease in the future demand a detailed understanding of the molecular anatomy, physiology, and biochemistry of the human genome. We shall have to have physicians who are as conversant with the molecular anatomy of chromosomes and genes as the cardiac surgeon is with the structure and workings of the heart and circulatory tree. Gene therapy will have to be evaluated in terms of alternative and more conventional forms of treatment just as is now done before undertaking heart valve replacements and renal transplants."

Paul Berg at Banbury Center, Cold Spring Harbor Laboratory Conference on "Prospects for Gene Therapy: Fact & Fiction" February 1982

Definition:

Medical genetics involves the application of genetic principles in the practice of medicine. Medical genetics encompasses diagnosis and treatment of genetic diseases, study of inheritance of diseases in families, mapping of disease genes to their chromosome locations, study of the molecular genetics and pathogenesis of inherited disorders, provision of genetic counseling for families, and recently, investigations of methods for gene therapy.

The field of Human Genetics has expanded exponentially over the past twenty-five years. In fact, by the time you graduate you will be able to select residency training in Medical Genetics. Although medical genetics was once thought of as an exotic and arcane subspeciality, advances in the development of new and more accurate methods of diagnosing hereditary disease have led to a greater "genetic awareness" and recognition that medical genetics plays a role in all areas of medicine.

Medical geneticists care for fetuses in utero, newborns, children, and adults with inherited conditions, adults with infertility or recurrent miscarriages, and adults who are genetically predisposed to cancer.

Unlike any other field, genetics represents a true integration between the basic and the clinical sciences.

See also:

American Society for Human Genetics Information and Education Committee. American Society for Human Genetics Report. Report from the ASHG Information and Education Committee: Medical School Core Curriculum in Genetics. American Journal of Human Genetics. 1995 Feb;56(2):535-7.

Methods of Student Evaluation

  1. Final Examination: At the conclusion of the course there is one multiple-choice examination. Students will receive a grade of pass/fail for the course. It is our experience that attending the lectures is an important determinant in passing the exam. The lecturers make a point to discuss and emphasize the concepts on which you will be tested.
  2. Genetics web case: This year we have added an interactive web case that you must complete in order to pass the course. You will not be graded on the case, but you must complete it in order to get credit for this course. Concepts emphasized in the web case will be covered on the final exam.