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. 2013 Fall;12(3):441–459. doi: 10.1187/cbe.12-11-0193

Table 1.

Introductory curriculum, Using Bioinformatics: Genetic Testing: lesson activities and learning objectives

Title Learning objectives Activities Featured career and rationale
Lesson 1: Bioinformatics and Genetic Testing Genetic tests are available for many conditions, but vary in their clinical validity and usefulness. Genetic tests can have social and ethical implications. Student-led play, Meet the Gene Machine Teacher-led exploration of DTC company website,23andMeNOVA video, “A Family Disease” Bioengineer: develops devices like the “gene machine” featured in the play
Lesson 2: Navigating the NCBI Biological data are stored in public databases such as the one at the NCBI. Genetic tests are developed using the biological information available in databases such as the one at the NCBI. All organisms need DNA repair proteins like BRCA1, including cats and dogs. Student-led exploration of the NCBI Understanding databases through a comparison of the NCBI and iTunes Veterinarian: genetic testing is now available for animals, too
Lesson 3: Exploring Genetic Testing: A Case Study Genetic testing can have implications for family members of the patient, as they share the same genetic material. Ethical principles can be applied to many situations, assist in considering alternative perspectives, and facilitate engagement in discussion and decision making. Structured academic controversy using a short case study about a woman considering BRCA1 genetic testing Genetic counselor: helps people consider the risks and benefits of genetic testing
Lesson 4: Understanding Genetic Tests to Detect BRCA1 Mutations Reference sequences are used to determine whether patient DNA sequences contain mutations. The bioinformatics tool BLAST can be used to compare DNA and protein sequences. Use a pedigree and Punnett squares to identify family members who should consider testing for BRCA1 mutations Align patient DNA and protein sequences against a reference sequence to identify a mutation using BLAST Laboratory technician: processes patient samples for genetic testing
Lesson 5: Learning to Use Cn3D: A Bioinformatics Tool Bioinformatics tools like Cn3D help scientists visualize molecular structures. A protein is a physical “thing” with a three-dimensional structure that determines its function. A mutation can impact the three-dimensional structure (and therefore the function) of a protein. Student-led exploration of macromolecular structure using Cn3D Teacher-led exploration of the impact of mutations on the BRCA1 protein using Cn3D Three-dimensional animator: utilizes biological information to make difficult concepts understandable (such as the animation featured in this lesson)
Lesson 6: Evaluating Genetic Tests: A Socratic Seminar Discussion Genetic tests differ in their clinical validity and usefulness. There are some conditions for which there are genetic tests but no effective treatment. Medical conditions differ in their penetrance and the number of genes involved. Socratic seminar discussion utilizing one of two readings Bioethicist: helps scientists and society consider the ethical implications of scientific endeavors, including genetic testing
Lesson 7: An Introduction to Bioinformatics Careers Bioinformatics tools are used by people in many different careers. Different careers require different skills and education. Jobs in many fields require submission of a résumé specific to that job. Select a career and read an interview transcript with a career professional from lessons 1–6 Perform Internet research about a selected career Prepare a résumé Students select one career from previous lessons to explore further
Lesson 8: Genetic Testing Unit Assessment: ALAD and SOD1 Demonstrate proficiency using BLAST, Cn3D, and ethical reasoning Application of BLAST, Cn3D, and ethical reasoning skills to a new genetic disease and associated genetic test None