About this course: Learn how advances in biomedicine hold the potential to revolutionize drug development, drug treatments, and disease prevention: where are we now, and what does the future hold? This course will present short primers in genetics and mechanisms underlying variability in drug responses. A series of case studies will be used to illustrate principles of how genetics are being brought to bear on refining diagnoses and on personalizing treatment in rare and common diseases. The ethical and operational issues around how to implement large scale genomic sequencing in clinical practice will be addressed. After completing this course, learners will understand 1. The ways in which genetic variants can contribute to human disease susceptibility 2. How to choose among drug therapies based on genetic factors 3. That the functional consequences of the vast majority of genetic variants discovered by modern sequencing are unknown. This course is targeted primarily at physicians 5+ years out of training. Other healthcare providers, medical/health sciences students, and members of the public may also be interested. Course launches January 15, 2016. * The information presented in “Case Studies in Personalized Medicine” is offered for educational and informational purposes only, and should not be construed as personal medical advice. If you have questions or concerns about a medical matter, please consult your doctor or other professional healthcare provider.
Created by: Vanderbilt University
Taught by: Dan Roden, M.D., Professor of Medicine and Pharmacology
Assistant Vice Chancellor for Personalized Medicine
| Commitment | 2-4 hours/week |
| Language | English |
| How To Pass | Pass all graded assignments to complete the course. |
| User Ratings |
Syllabus
WEEK 1
UNIT 1: INTRODUCTION TO PERSONALIZED MEDICINE
The first module of this course will focus on introducing the concept of personalized medicine. We will very briefly review fundamentals of genetics as these apply to personalized medicine (DNA structure; RNA; protein structures; function of DNA; coding; DNA variations; types of genetic variants), as well as review statistical concepts and skills important to clinical data analysis (odds ratios, relative risk, P values, multiple testing, sensitivity, specificity, ROCs). In Module 2 we will explore drug actions and reactions as we look closely at the general mechanisms underlying variability in drug responses, drug metabolism and transport, and genetic variability in drug-handling molecules.
11 videos, 1 reading
- Video: A welcome message from Dr. Roden
- Reading: About this course
- Video: Introduction to Personalized Medicine
- Video: Genetics Definitions, Part I
- Video: Genetics Definitions, Part II & Types of Genetic Variants
- Video: Data Analysis, Part I: What is a Good Study?
- Video: Data Analysis, Part II: What is a Good Test?
- Video: Introduction to Drug Therapy and General Mechanisms Underlying Variability in Drug Responses
- Video: Variability in Drug Therapy
- Video: Drug Metabolism & Transport
- Video: Genetic Variability in Drug-Handling Molecules
- Video: **Inside VUMC: The Promise of Personalized Medicine
- Discussion Prompt: What kinds of data are helpful?
- Discussion Prompt: What is a good study?
- Discussion Prompt: What is a good test?
- Discussion Prompt: Why might an individual who has a non-sense variant not have a phenotype?
- Discussion Prompt: What are causes of variability in drug action?
Graded: Introduction to Personalized Medicine
WEEK 2
UNIT 2: STUDYING GENETIC VARIATION
Module 3 focuses on how we study genetic variation. We'll start by looking at families and populations. Topics that will be introduced include family history and inheritance patterns, ancestry, and linkage. Then in Module 4 we shift our focus to studying the contemporary techniques and technologies used to study genetic variation, including genome-wide association and sequencing.
7 videos
- Video: Family History and Inheritance Patterns
- Video: Ancestry: Genetic Variation Across Generations and Geography
- Video: Finding Disease-Associated Genes: Linkage
- Video: **Inside VUMC: From Phenotype to Genotype and Back: Studying Heart Disease in Families
- Video: Genome-Wide Association
- Video: Sequencing
- Video: **Inside VUMC: History of Sequencing Technologies
- Discussion Prompt: What are causes of incomplete penetrance?
- Discussion Prompt: How big should your GWAS sample size be?
- Discussion Prompt: How big would the odds ratio need to be?
- Discussion Prompt: Can sequencing inform understanding of common diseases?
Graded: Studying Genetic Variation
WEEK 3
UNIT 3: CASE STUDIES IN PERSONALIZED MEDICINE, PART 1
In Module 5 we will begin to discuss specific cases as these apply to personalized medicine. We will first look very closely at a case of familial hypercholesterolemia as we investigate how we use genomic medicine to move from a rare disease to a common medication, using genomics to find new drug targets, and a discussion of the side effects of statin therapy. In Module 6 we will look at a collection of "high risk pharmacogenetics"cases that illustrate adverse reactions due to drug metabolism and variable drug responses.
13 videos
- Video: From rare to common disease: familial hypercholesterolemia
- Video: Using Genomics to Find New Drug Targets: Familial Hypercholesterolemia
- Video: Muscle Pains During Statin Therapy (Myopathy)
- Video: HLA-Mediated Immune Reactions (Skin Rash)
- Video: Long QT Syndromes, Part 1
- Video: Long QT Syndromes, Part 2
- Video: **Inside VUMC: Studying Cardiac Arrhythmias in Cells
- Video: A Second Heart Attack a Month After a First
- Video: Headache During Venlafaxine (Antidepressant)
- Video: Respiratory Arrest After Tonsillectomy
- Video: A Bleeding Complication 5 Days After Starting Warfarin
- Video: **Inside VUMC: Genotyping
- Video: Drug Metabolism and Variable Drug Responses – Four More Examples
- Discussion Prompt: PCSK9 mutations and familial hypercholesterolemia
- Discussion Prompt: Simvastatin-related myopathy
- Discussion Prompt: Which drug-gene interactions warrant testing?
- Discussion Prompt: Should RCTs be done on every pharmacogenomic association before clinical implementation?
Graded: Case Studies, Part I
WEEK 4
UNIT 4: CASE STUDIES IN PERSONALIZED MEDICINE, PART 2
Module 7 continues our focus on case studies with a look at some cases that illustrate how personalized medicine informs treatment decisions related to specific diseases/conditions. These include cystic fibrosis, Marfan syndrome, heart failure, neuropsychiatric diseases, and diabetes. Three cases/lessons focus specifically on how genomic medicine informs testing for and treatment of cancer.
9 videos
- Video: Cystic Fibrosis
- Video: Marfan Syndrome
- Video: A Case of Idiopathic Heart Failure
- Video: Personalizing Care in Neuropsychiatric Disease
- Video: Personalizing Care in Diabetes
- Video: Genomics to Subtype Cancer
- Video: A Family Member With Breast Cancer
- Video: A Family Member With Colon Cancer
- Video: **Inside VUMC: Organizing Infrastructure to Support Genetic Testing Decisions
- Discussion Prompt: How much should a drug cost?
- Discussion Prompt: What data are needed in decisions about starting lithium therapy?
- Discussion Prompt: Would you order a CYP2D6 genotype before starting venlafaxine?
- Discussion Prompt: When to test for BRCA1 mutations?
Graded: Case Studies, Part II
WEEK 5
UNIT 5: PERSONALIZED MEDICINE IN A SYSTEM OF CARE
Module 8 serves as a review and a continuing discussion of the cases presented in Modules 5-7, as we take a look at where we are now and what's on the horizon in personalized medicine. In Module 9 we will explore some critical considerations for implementing and operationalizing personalized medicine in a system of care, particularly in the area of informatics. We will discuss the role of the electronic medical record in a learning healthcare system, how electronic records support discovery, and using electronic records in the delivery of personalized medicine.
9 videos
- Video: Where We Are Now
- Video: Where We Are Going
- Video: **Inside VUMC: Using iPSCs: Drug Discovery and Drug Efficacy
- Video: **Inside VUMC: Generating iPSCs
- Video: Electronic Medical Records & The Learning Healthcare System (Discovery)
- Video: Using Electronic Records to Personalize Care (Delivery)
- Video: **Inside VUMC: Using the EMR to Ascertain Patients for Genetic Studies
- Video: **Inside VUMC: Biobanking & DNA Extraction at BioVU
- Video: **Inside VUMC: Personalized Medicine is a Team Sport
- Discussion Prompt: What limits our use of genomic sequencing data in practice?
- Discussion Prompt: What are possible drawbacks to widespread use of EMRs?
- Discussion Prompt: What are the barriers to widespread implementation of genomic medicine?
Graded: Personalized Medicine in a System of Care
WEEK 6
FINAL REFLECTION ACTIVITY
We are on the verge of having patients come to their physicians with their entire genome sequenced. How can we best use this information to improve care? This course looks closely at many specific genetic variants that have been identified as playing a role in a person’s susceptibility to disease and/or potential for adverse reaction to certain substances/drugs.
In the peer review activity below, please reflect on how your learning in this course has impacted your understanding of personalized medicine. There are two versions of this activity – one for healthcare professionals (doctors, nurses, pharmacists, medical students, etc.), and one for non-healthcare professionals (patients, consumers, general interest, etc.)
Please be sure to choose the appropriate version of the activity.
2 items
- Peer Review: For Healthcare Professionals
- Peer Review: For a General Audience (not Healthcare Professionals)
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Ratings and Reviews
I learned more about pharmacogenomics and its application, which is crucial for my career development as a young graduate in biology who is pursuing health sciences.
A very interesting, well- structured, sistematic and didactic course.
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Y
This course was such a joy; to learn from leaders in the field as well as the application of the acquired knowledge . The course is very well put together and helps one to understand where and what the roles of genetics are in the health care system. Thank you so much for the opportunity.