* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Making Genomics Relevant in the Medical Curriculum
Biology and consumer behaviour wikipedia , lookup
Genetic drift wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
BRCA mutation wikipedia , lookup
Genetically modified food wikipedia , lookup
Oncogenomics wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Gene expression programming wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Heritability of IQ wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Nutriepigenomics wikipedia , lookup
Behavioural genetics wikipedia , lookup
Genealogical DNA test wikipedia , lookup
Gene therapy wikipedia , lookup
Human genetic variation wikipedia , lookup
History of genetic engineering wikipedia , lookup
Population genetics wikipedia , lookup
Pharmacogenomics wikipedia , lookup
Medical genetics wikipedia , lookup
Genetic engineering wikipedia , lookup
Designer baby wikipedia , lookup
Microevolution wikipedia , lookup
Genome (book) wikipedia , lookup
DNA paternity testing wikipedia , lookup
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”