Health Sciences > Genetics > Genomic Medicine

Genomic Medicine posted by duggu on 11/24/2007

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Abstract/Syllabus

Courseware/Lectures

Test/Tutorials

Course Highlights

Audio of most lecture sessions, in addition to downloadable lecture notes, are available for this course.

Course Description

This course reviews the key genomic technologies and computational approaches that are driving advances in prognostics, diagnostics, and treatment. Throughout the semester, emphasis will return to issues surrounding the context of genomics in medicine including: what does a physician need to know? what sorts of questions will s/he likely encounter from patients? how should s/he respond? Lecturers will guide the student through real world patient-doctor interactions. Outcome considerations and socioeconomic implications of personalized medicine are also discussed. The first part of the course introduces key basic concepts of molecular biology, computational biology, and genomics. Continuing in the informatics applications portion of the course, lecturers begin each lecture block with a scenario, in order to set the stage and engage the student by showing: why is this important to know? how will the information presented be brought to bear on medical practice? The final section presents the ethical, legal, and social issues surrounding genomic medicine. A vision of how genomic medicine relates to preventative care and public health is presented in a discussion forum with the students where the following questions are explored: what is your level of preparedness now? what challenges must be met by the healthcare industry to get to where it needs to be?

Special Features

Complete audio lectures

Technical Requirements

RealOne™ Player software is required to run the .rm files found on this course site.

RealOne™ is a trademark or a registered trademark of RealNetworks, Inc.

Syllabus

Overview

This course is targeted to medical students, biomedical scientists, biomedical engineers, and instructors of future genomic medicine and related courses. Advanced concepts in the bioinformatics field will be carefully introduced and require no advanced math/statistics background. Where computation is needed, the students will be provided with working tools and relevant data sets from real world examples.

Some of the questions addressed in the course include:

What real benefits of genomics can be anticipated in the near future in terms of new drugs and treatments?
Which strategies to date have been the most successful?
How can diagnosis and the diagnostic process be changed today?
How do our prognostic abilities change?
How does one manage the deluge of clinically relevant genomic data?
What constitutes a genomic clinical trial?
What are the useful features of alternative genomic technologies today and for the near future?
What are the different kinds of genomic informational resources and databases? Are they useful and how?
How can the drug discovery process make better use of genomic information?
What are the ethical individual and corporate challenges ahead?
What are the key limitations we face?

Pre-requisites

Molecular Biology and Genetics in Modern Medicine (HST.160) or basic introductory genetics, facility with a programming language (e.g., Perl), or instructor's permission.

Texts

Brown, Terence A. Genomes. 2nd ed. Wiley-Liss, June 15, 2002. ISBN: 0471250465.

Kohane, Isaac S., Alvin Kho, and Atul J. Butte. Microarrays for an Integrative Genomics. MIT Press, August 21, 2002. ISBN: 026211271X.

Dhanda, Rahul K. Guiding Icarus: Merging Bioethics with Corporate Interests. 1st ed. Wiley-Liss, April 5, 2002. ISBN: 0471223808.

Course Requirements

Course meets for 2 lectures/week (1.5 hours/lecture); 3 problem sets assigned. In addition, students are required to give a 20-minute oral presentation and complete a scientific, publication-quality paper, approximately 10 pages long.

Calendar

LEC #	TOPICS	KEY DATES
1	Genomic Introduction
2	Introduction to Biology and Genomic Measurement
3	Measurement Techniques - Butte
4	Microarray - Massively Parrallel Measuremment
5	Limits of Technologies
6	Information Science at the Center of Genomic Medicine
7	Informational Resources
8	Complex Traits: What to Believe
9	Machine-learning Approach
10	Association with Markers
11	The Importance of Data Representation
12	Pharmacogenomics
13	Case Hx: Complex Traits
14	Individualized Pharmacology
15	Microarray Disease Classification
16	Microarray Disease Classification II
17	Direct Prediction of Outcome / Mortality
18	Case Hx: Cancer Diagnostics
19	Modelling and Reverse Engineering
20	Practical Genomic Medicine

Readings

Reading List

Bell, John I. "The Double Helix in Clinical Practice." Nature 421 (23 January 2003): 414-416.

Boffeli, Dario, et al. "Phylogenetic Shadowing of Primate Sequences to Find Functional Regions of the Human Genome." Science 299 (28 February 2003): 1391-1394.

Gilbertson, Richard J., and Steven C. Clifford. "PDGFRB Is Overexpressed in Metastatic Medulloblastoma." Nature Genetics 35, no. 3 (November 2003): 197-198.

Gollust, Sarah E., Sarah Chandros Hull, and Benjamin S. Wilfond. "Limitations of Direct-to-Consumer Advertisingg for Clinical Genetic Testing." Journal of the American Medical Association 288, no. 14 (9 October 2002): 1762-1767.

Green, Mark R. "Targeting Targeted Therapy" (editorial). New England Journal of Medicine 350, no. 21 (20 May 2004): 2191-2193.

Guttmacher, Alan E., and Francis S. Collins. "Genomic Medicine - A Primer." New England Journal of Medicine 347, no. 19 (7 November 2002): 1512-1520.

Harmon, Amy. "As Gene Test Menu Grows, Who Gets to Choose?" New York Times 21 July 2004.

Khoury, Muin J., Linda L. McCabe, and Edward R. McCabe. "Population Screening in the Age of Genomic Medicine." New England Journal of Medicine 348, no. 16 (17 April 2003): 1604-1605.

Korf, Bruce R. "Genetics in Medical Practice." Genetics in Medicine 4, no. 6, supplement (November-December 2002): 10S-14S.

Ledley, Fred. "A Consumer Charter for Genomic Services." Nature Biotechnology 20 (August 2002): 767.

Lohmueller, Kirk E., et al. "Meta-analysis of Genetic Association Studies Supports a Contribution of Common Variants to Susceptibility to Common Disease" (letter). Nature Genetics 33 (February 2003): 177-182.

Lynch, Thomas J., et al. "Activating Mutations in the Epidermal Growth Factor Receptor Underlying Responsiveness of Non-Small-Cell Lung Cancer to Gefitinib." New England Journal of Medicine 350, no. 21 (20 May 2004): 2129-2139.

"The Personal Genome Sequencer." Technology Review (November 2002): 76-79.

Rusnak, James M., et al. "Pharmacogenomics: A Clinician's Primer on Emerging Technologies for Improved Patient Care." Mayo Clinic Proceedings 76 (2001): 299-309.

Sharpe, James, et al. "Optical Projection Tomography as a Tool for 3D Microscopy and Gene Expression Studies." Science 296 (19 April 2002): 541-545.

Tefferi, Ayalew, et al. "Primer on Medical Genomics - Part II: Background Principles and Methods in Molecular Genetics." Mayo Clinic Proceedings 77 (2002): 785-808.

Tilstone, Clare. "DNA Microarrays: Vital Statistics." Nature 424 (7 Aug 2003): 610-612.

Varmus, Harold. "Getting Ready for Gene-Based Medicine" (editorial). New England Journal of Medicine 347, no. 19 (7 November 2002): 1526-1527.

Wang, David, et al. "Microarray-based Detection and Genotyping of Viral Pathogens." Proceedings of the National Academy of Sciences 99, no. 24 (26 November 2002): 15687-15692.

Other Materials

"Informed Consent for Diagnostic Genetic Testing. Fact Form for Patients. " Société Suisse de Génétique Médicale, Berne, Switzerland, 26 November 2001. (Courtesy of Societe Suisse de Genetique Medicale. Used with permission.)

Test Requisition Form. Athena Diagnostics, Worcester, Mass.