Transcript Making Genomics Relevant in the Medical Curriculum

Making Genomics Relevant
in the Medical Curriculum
Jay Ellison PhD,MD
Director, Medical Genetics Training Program
Mayo Clinic College of Medicine
Teaching Strategies and Tools
• Address application of genomics.
• Acknowledge students’ aptitudes and
interests - include ethical, legal issues.
• Specific strategies:
• Use case examples of genetic testing.
• Use popular press articles relating to
genomics.
Genetic Testing:
Biological/Clinical Aspects
• Multiple causes for given condition
• Inheritance patterns as a guide to testing
• Phenomenon of penetrance
• Significance of polymorphisms
• Does ethnicity matter in testing?
• What does the mutation tell us about the
disease?
Genetic Testing:
Technical/Practical Aspects
• Test sensitivity - how is the test done?
• Is the right gene being tested for?
• What tissue is needed and why?
• What is the cost?
Genetic Testing:
Legal/Ethical Aspects
• Privacy issues - Who should be told
about the results?
• Insurability and employability
• Testing of children
Case Example: A 70 y.o. woman
with leg weakness
The patient has had progressive
spasticity and weakness for 2 years.
There is no family history of similar
symptoms, and she has no children.
A diagnosis of hereditary spastic
paraplegia is being considered.
Should she be tested? If so, how?
Relevant Information for Deciding
About Testing for Spastic Paraplegia
• Variable phenotypes, including that
shown by patient.
• Over 10 genetic loci, different modes
of inheritance (AD,AR,X-linked).
Nongenetic causes also common.
• No specific therapy available.
• Testing available for 3 genes.
• Cost: $2200-3000 for 1-2 genes.
Case Example: A Woman Wants
Breast Cancer Testing
• A 35. y.o. woman has just returned
from her high school reunion, where
she learned that a classmate has
recently died of breast cancer. She
has heard about a gene test and
wants testing. There is no family
history of breast or ovarian cancer.
• Should testing be done?
Scenario: Testing for a New
Genetic Risk Factor
• In one study, individuals with a
certain genetic variant were at double
the risk of getting condition X.
• There is questionable preventive
treatment for condition X.
• Should widespread screening for this
variant take place?
Popular Press Articles:
A Source for Teaching Points
• Topics I’ve used:
• Cloning and Stem Cells
• “Designer Babies”
• Gene Therapy
• Race and Medicine
• Cancer Testing
• New Genetic Risk Factors
Sources of News Articles
• Almost any major newspaper - look
outside your region online.
• Many have free downloads or minimal
charges for archived articles.
• I’ve used NY Times, Boston Globe, SF
Chronicle.
• Recommend searching their
archives with keywords of interest.
Examples of Genomics in the News
• “The Promise of Therapeutic Cloning”
• “I am a Racially Profiling Doctor”
• “Commission Sues Railroad To End
Genetic Testing In Work Injury Cases”
• “Being more than kissing cousins OK”
• “Common Gene Variation in Men
Linked to Heart Risk”
• “Gene Therapy for Hemophilia Shows
Some Promise”