Lesson 2: Direct to Consumer Gene c Tes ng



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Learning Cycle Stage(s): Adapted from: Explore/Explain Ethical, Legal, and Social Issues of Genomic Research Robert Banks, Malcolm Shabazz City High School, WI Corinne Engelman, University of Wisconsin, WI ASHG Concept(s) Addressed: Gene expression and regula on #11; Gene cs and society #20 Time Required: 100 130 minutes Lesson 2: Direct to Consumer Gene c Tes ng Explore 1) Give each student a set of mock 23andMe Spit Kit results (Appendix I). Have students choose one disease or trait from their report to research using the suggested online resources in Appendix II. a. For the first part of their research, have students create a FAQ sheet (Appendix III) about the disease or trait they have chosen. Note: Students that have chosen the Resistance to HIV/ AIDS trait should create a FAQ sheet about HIV/AIDS itself. b. For the second part of their research, have students visit the 23andMe sample report (h ps:// www.23andme.com/health/all/) for their disease/trait of interest and answer the ques ons in Appendix IV. 2) Group students who have researched the same disease/trait (no more than four students per group) and have them discuss the following ques on: Given the informa on you have collected, how useful do you think the gene c risk assessment on your spit kit reports is for this disease/ trait? Is it accurate? Is it relevant? Jus fy your answer using at least three criteria. While monitoring the small group discussions, prompt students to consider the completeness of the set of markers tested, the validity of the link between each marker and the disease/trait of interest, the magnitude of reported rela ve risk, and the overall heritability of the disease/trait. 3) Ask each group to summarize its discussion for the class. Record reoccurring themes on the board or on chart paper and save for the following lesson. 4) Ask students to return to their small groups and consider the following ques ons: a. Are there benefits to DTC gene c tes ng for your disease/trait? b. Are there drawbacks to DTC gene c tes ng for your disease/trait? 5) Ask each group to summarize its discussion for the class. Again, record recurring themes. Explain 1) Introduce students to the concept of gene c determinism using the opening paragraph on pg. 31 of Chapter 3: Gene c Determinism from DNA: Promise and Peril (McCabe, Linda L. & McCabe, Edward R.B. Regents of the University of California Press, 2008.). 2) Ask students to revisit their research and offer one piece of evidence either in support of or refu ng gene c determinism. Discuss briefly with a partner. 3) Have students read pgs. 44 53 of Chapter 3: Gene c Determinism from DNA: Promise and Peril by Linda and Edward McCabe using the reading guide in Appendix V. Eugenics is discussed in this sec on and may not be a term that students are familiar with. It is defined as applied science or the biosocial movement which advocates the use of prac ces aimed at improving the gene c composi on of a popula on. Usually refers to human popula ons. (Na onal Library of Medicine, h p://ghr.nlm.nih.gov/glossary=eugenics). 45 min 15 min 10 min 10 min 10 min 5 min 5 min 30 min or HW

Appendix I Results from the 23andMe Spit Kit (Sample #1) Resistant to infec on Results from the 23andMe Spit Kit (Sample #2) Carrier Resistant to infec on

Results from the 23andMe Spit Kit (Sample #3) Resistant to infec on Results from the 23andMe Spit Kit (Sample #4) Non carrier Resistant to infec on

Results from the 23andMe Spit Kit (Sample #5) Not resistant to infec on Results from the 23andMe Spit Kit (Sample #6) Carrier Not resistant to infec on

Results from the 23andMe Spit Kit (Sample #7) Not resistant to infec on Results from the 23andMe Spit Kit (Sample #8) Not resistant to infec on

Results from the 23andMe Spit Kit (Sample #9) Not resistant to infec on

Appendix II Online sources for researching non Mendelian diseases/traits www.google.com Google: general search engine. Look for na onal organiza ons, associa ons, support groups for the disease www.wikipedia.org Wikipedia: free online user contributed encyclopedia. Also check the sources sec on at the bo om of the ar cle for further references. h ps://www.23andme.com/health/all/ List of sample reports for all traits/diseases linked to markers 23andMe tests for. h p://health.nih.gov/ Na onal Ins tutes of Health: the na on s medical research agency. Browse general health topics alphabe cally. h p://www.cdc.gov/diseasescondi ons/ Centers for Disease Control and Preven on. Alphabe cal, cross referenced collec on of informa on on diseases and condi ons. www.gene calliance.org Gene c Alliance: not for profit organiza on providing informa on to gene c consumers, researchers, and industry. Lis ngs of gene c diseases as well as corresponding organiza ons. www.kumc.edu/gec/support/ University of Kansas Medical Center. Lis ng of rare and gene c condi ons and informa on. h p://www.mayoclinic.com/health/diseasesindex/diseasesindex Mayo Clinic s disease search site. Consumer health site with symptom and treatment informa on on many common and rare diseases. www.medicinenet.com MedicineNet. Informa onal database of diseases, symptoms, procedures, and tests.

Appendix III Gene c Trait/Disease FAQ Sheet for Pa ents Name of disease or trait: 1) Are there any demographic risk factors (e.g., gender or ethnicity) associated with this disease/trait? 2) Are there any behavioral (e.g., smoking) or environmental (e.g., exposure to UV light) factors associated with this disease/trait? 3) If yes, approximately how much does gene cs contribute to this disease/trait (i.e., how heritable is the disease/ trait)? 4) Generally, how old are pa ents when they develop this disease/trait? 5) What are the most common symptoms or phenotypes associated with this disease/trait? How long do they last? 6) Are there preven ve measures that people can take to avoid the onset of this disease/trait?

7) What behavioral or environmental modifica ons can pa ents make to control their symptoms? 8) Are there any treatments for this disease/trait? Is there a cure for this disease/trait? 9) What sources can pa ents turn to for more informa on?

Appendix IV Name of disease or trait: Answer the following ques ons in complete thoughts. 1) For the disease/trait you are researching, how many total markers does 23andMe test for? How many are Established versus Preliminary Research Reports? 2) What is the difference between an Established Research Report marker and a Preliminary Research Report marker? Is the link to a disease/trait more valid for one versus the other? 3) Are there other known or unknown gene c factors that 23andMe does not test for that contribute to your overall gene c risk for developing this disease/trait? Cite your source(s). 4) Given the ethnicity(ies) used to study the marker(s) linked to your disease/trait, how relevant is the report to you specifically? Jus fy your answer. 5) Certain genotypes for each marker are associated with either increased or decreased gene c risk of developing your disease/trait. What is increased or decreased risk rela ve to? 6) How will the risk assessment reported to you for this disease/trait influence your future behavior?

Appendix V Reading Guide for DNA: Promise and Peril For all the following ques ons, provide evidence from the reading, such as which paragraph, quotes, etc., where it is appropriate to do so. The reading guide is intended to help you to more carefully consider the content, intent, and relevance of the reading. 1) What is the main topic of this sec on? 2) What is/are the ethical, legal, or social component(s) of this issue? 3) Does anything from this chapter resonate with your own personal experience? 4) Briefly describe how your understanding of the topic changed as you read the chapter. 5) What thoughts or ques ons would you like to have shared or asked the authors that are relevant to the content of the chapter?