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This introductory seminar course and the materials presented here focus on the science underlying personal genome analysis, comparison of tests available from the varied companies that dominate the direct-to-consumer genetic marketplace (e.g., Ancestry DNAFamily Tree DNAThe Genographic Project, and 23andMe), and building the knowledge to navigate the results obtained from the analysis of your own DNA sample. Materials are organized to support this course, aimed at introducing someone with only a basic understanding of biology to The Personal Genome and the discoveries that lie within, but are available to anyone. The site is actively "under construction".

COURSE OBJECTIVES:  In this course you will:

  • Contrast different types of genetic information indicative of ancestral relationships
  • Recognize the existence of genetic structure among human populations across the globe
  • Build proficiency in the conceptual foundation for the methods that underlie tests of human ancestry
  • Navigate the 23andMe web platform to view the various interpretations of genome data
  • Investigate the relationship between genotype and phenotypic characteristics with known genetic basis
  • Evaluate the personal and the potential societal impacts from commercialization of genetic tests
  • Develop skills for contributing to a productive group discussion about science and humanity


Learning objectives

Week 1

Consequences of DNA Testing

Consider the possible outcomes of DNA testing

Evaluate the value of the results versus potential foreseen and unforeseen consequences

Identify the potential impacts of DNA testing on you and your relatives

Week 2

DNA and the Human Genome

Registering a 23andMe Kit

Relate the molecular structure of DNA to genome sequence

Recognize the presence of a shared genome among cells of your body

Prepare authorization forms and samples for DNA testing

Week 3

Genealogy to Trees: Inheritance and Tracing Ancestry Near and Far

Reading: Genetic Connections Between Organisms from the Tree of Life Project

Integrate parent-offspring relationships into the broader Tree of Life

Apply a ‘tree thinking’ framework to individuals, populations and species

Recognize the utility of shared features, such as SNPs, as indicators of common ancestry

Week 4

Mitochondrial Eve & Y-Chromosome Adam

Reading: The Recent African Genesis of Humans, Cann & Wilson, Scientific American (ICON link)

Trace the uni-parental history of the mitochondrial genome and Y chromosome

Contrast between unique mutations and common SNPs in ancestry analysis

Recognize the geographic patterns and the prevalence of haplogroups

Week 5

Ancestry Composition

Identify your placement within the Y chromosome and/or mtDNA tree of humanity

Interpret the different predictions of the ancestry composition

Recognize the presence of ancient genetic variants revealed by Neanderthal ancestry

Week 6

Geographic Variation Among Humans

Reading: assigned on ICON

Evaluate the importance of reference populations in ancestry analysis

Contrast geographic patterns of shared and private variation in humans

Relate patterns of genetic variation in modern human populations to global colonization

Week 7

Autosomal Inheritance

Contrast different patterns of inheritance; mtDNA, Y, X, and autosomes

Consider the role of recombination in shuffling autosomes and X chromosomes

Calculate degrees of relatedness and expected similarity in autosomal DNA

Week 8

Genetic Genealogy: It’s All Relative(s)!

Evaluate the relationships revealed with other users indicated by shared genome segments

Recognize the value of testing known relatives to partition branches of your family tree

Predict the percent similarity expected based on degree of family relationship

Week 9

Genetic Variation and Phenotypic Diversity

Recognize the influence of the genotype on the appearance of a phenotype

Contrast between traits with simple versus complex genetic causation

Evaluate the association between genetic variants and complex phenotypes

Week 10

Navigating Your Genome

Compare regions of your genome shared with relatives

Use SNPedia to identify variants of interest and explore your genotype

Week 11

Test Results and Health Risk

Interpret the meaning of increased health risks associated with genetic variants

Recognize the impact of genetic variants on the effectiveness of pharmaceuticals

Week 12

FDA Regulation of DTC Genetic Tests

Readings: Green & Farahany Nature 2014 (ICON link), Swan Genetics in Medicine 2010 (ICON link)

Other coverage: The New Yorker, NY Times

Evaluate potential outcomes of learning about disease risks

Recognize the current level of impression in risk assessment from genetic data

Week 13

Downloading and Using Your Genome Data

Download your DNA test results and identify fields of the text file

Identify tools available for further analysis and interpretation of genome data

Week 14

Direct-to-Consumer Genetic Tests; Which Test To Do?

DTC Genetic Testing Companies Compared

Consider the different uses of direct-to-consumer genetic tests

Compare the results and platforms provided by different companies

Identify relatives that can be tested to enhance studies of ancestral relationships

Week 15

The Future of Genetic Testing

Reading: Perfect Genetic Knowledge by Dawn Field

Evaluate the value of personal genetic information relative to its costs

Identify societal impacts of widespread genetic testing

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