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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
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
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
• 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”