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. Address application of genomics. Acknowledge students’ aptitudes and interests - include ethical, legal issues. Acknowledge students’ aptitudes and interests - include ethical, legal issues. Specific strategies: Specific strategies: Use case examples of genetic testing. Use case examples of genetic testing. Use popular press articles relating to genomics. Use popular press articles relating to genomics.

Genetic Testing: Biological/Clinical Aspects Multiple causes for given condition Multiple causes for given condition Inheritance patterns as a guide to testing Inheritance patterns as a guide to testing Phenomenon of penetrance Phenomenon of penetrance Significance of polymorphisms Significance of polymorphisms Does ethnicity matter in testing? Does ethnicity matter in testing? What does the mutation tell us about the disease? What does the mutation tell us about the disease?

Genetic Testing: Technical/Practical Aspects Test sensitivity - how is the test done? Test sensitivity - how is the test done? Is the right gene being tested for? Is the right gene being tested for? What tissue is needed and why? What tissue is needed and why? What is the cost? What is the cost?

Genetic Testing: Legal/Ethical Aspects Privacy issues - Who should be told about the results? Privacy issues - Who should be told about the results? Insurability and employability Insurability and employability Testing of children 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. 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? Should she be tested? If so, how?

Relevant Information for Deciding About Testing for Spastic Paraplegia Variable phenotypes, including that shown by patient. Variable phenotypes, including that shown by patient. Over 10 genetic loci, different modes of inheritance (AD,AR,X-linked). Nongenetic causes also common. Over 10 genetic loci, different modes of inheritance (AD,AR,X-linked). Nongenetic causes also common. No specific therapy available. No specific therapy available. Testing available for 3 genes. Testing available for 3 genes. Cost: $ for 1-2 genes. Cost: $ 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. 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? 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. 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. There is questionable preventive treatment for condition X. Should widespread screening for this variant take place? Should widespread screening for this variant take place?

Popular Press Articles: A Source for Teaching Points Topics I’ve used: Topics I’ve used: Cloning and Stem Cells Cloning and Stem Cells “Designer Babies” “Designer Babies” Gene Therapy Gene Therapy Race and Medicine Race and Medicine Cancer Testing Cancer Testing New Genetic Risk Factors New Genetic Risk Factors

Sources of News Articles Almost any major newspaper - look outside your region online. Almost any major newspaper - look outside your region online. Many have free downloads or minimal charges for archived articles. Many have free downloads or minimal charges for archived articles. I’ve used NY Times, Boston Globe, SF Chronicle. I’ve used NY Times, Boston Globe, SF Chronicle. Recommend searching their archives with keywords of interest. Recommend searching their archives with keywords of interest.

Examples of Genomics in the News “The Promise of Therapeutic Cloning” “The Promise of Therapeutic Cloning” “I am a Racially Profiling Doctor” “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”