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Precision medicine has the potential to change fundamentally how health care is practiced, but requires a health care workforce that understands the complexities of this field. One important component of Precision Medicine is the use of an individual’s genomic information to offer targeted treatment, tailored to the individual. Our course aims to provide participants with some baseline knowledge of genomics, an overview of the clinical applications of genomic medicine, the skills to evaluate the clinical validity and utility of new tests, and an appreciation of the associated ethical and social issues inherent in this field.
The course is geared toward practicing health care providers, although it should be accessible to anyone with a background in the biological sciences and a basic understanding of genetics. It is designed to be succinct and clinically-focused, offering both conceptual and practical information about real-world applications of genomics. Two lessons offer a basic primer on molecular genomics relevant to the individual patient as well as to patient populations. The remaining five lessons focus on five applications of genomics and present the material as case studies, highlighting the strengths, limitations, and issues that arise in the use of each test.
This week you will learn foundational concepts about the structure and function of the human genome and different types of genetic and non-genetic variation that occur.
This week, Drs. Nussbaum and Norton will describe the use of genomics in the reproductive setting: carrier testing, non-invasive prenatal screening, prenatal diagnosis of Mendelian diseases, and newborn screening.
This week Dr. Nussbaum will review the use of next-generation sequencing for solving diagnostic dilemmas.
This week we will explore the genetics of common, complex diseases and the population genetics methods used to uncover genetic associations.
This week Dr. Mendelsohn joins me to roll play some scenarios to teach you about predictive tests for common, complex diseases and direct-to-consumer testing.
This week we discuss pharmacogenomic testing for drug selection, dosing and predicting adverse effects of commonly prescribed drugs.
Our final lecture explores tumor profiling for targeting cancer treatment and the use of blood-based gene expression profiles in cancer prognosis.
Jeanette McCarthy and Robert Nussbaum