Adapted from: 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
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 moni‐ toring 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, Ed‐ ward 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 re‐ fu 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
45 min 15 min 10 min 10 min 10 min 5 min 5 min 30 min or HW
Lesson 2: Direct‐to‐Consumer Gene c Tes ng
Appendix I
Results from the 23andMe “Spit Kit” (Sample #1)
Celiac Disease Higher risk than average Cys c Fibrosis Non‐carrier
Lactose Intolerance Average risk
Resistance to HIV/AIDS Resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Higher risk than average Colorectal Cancer Average risk
Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk
Lung Cancer Lower risk than average
Obesity Average risk
Schizophrenia Average risk
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #2)
Celiac Disease Average risk Cys c Fibrosis Carrier Lactose Intolerance Average risk
Resistance to HIV/AIDS Resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Average risk
Colorectal Cancer Higher risk than average Coronary Heart Disease Average risk
High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk Lung Cancer Average risk
Obesity Lower risk than average Schizophrenia Average risk
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #3)
Celiac Disease Average risk Cys c Fibrosis Non‐carrier
Lactose Intolerance Higher risk than average Resistance to HIV/AIDS Resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Average risk Colorectal Cancer Average risk
Coronary Heart Disease Higher risk than average High Blood Pressure (hypertension) Average risk
Lou Gehrig’s Disease (ALS) Average risk Lung Cancer Average risk
Obesity Average risk
Schizophrenia Average risk
Melanoma Lower risk than average
Results from the 23andMe “Spit Kit” (Sample #4)
Celiac Disease Average risk Cys c Fibrosis Non–carrier Lactose Intolerance Average risk
Resistance to HIV/AIDS Resistant to infec on Type 2 Diabetes Higher risk than average Bipolar Disorder Average risk
Colorectal Cancer Average risk Coronary Heart Disease Average risk
High Blood Pressure (hypertension) Higher risk than average Lou Gehrig’s Disease (ALS) Average risk
Lung Cancer Lower risk than average
Obesity Average risk
Schizophrenia Average risk
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #5)
Celiac Disease Higher risk than average Cys c Fibrosis Non‐carrier
Lactose Intolerance Average risk
Resistance to HIV/AIDS Not resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Average risk Colorectal Cancer Average risk Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk
Lou Gehrig’s Disease (ALS) Higher risk than average Lung Cancer Average risk
Obesity Lower risk than average Schizophrenia Average risk
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #6)
Celiac Disease Average risk Cys c Fibrosis Carrier Lactose Intolerance Average risk
Resistance to HIV/AIDS Not resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Average risk Colorectal Cancer Average risk Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk
Lung Cancer Higher risk than average
Obesity Average risk
Schizophrenia Average risk
Melanoma Lower risk than average
Results from the 23andMe “Spit Kit” (Sample #7)
Celiac Disease Average risk Cys c Fibrosis Non‐carrier
Lactose Intolerance Higher risk than average Resistance to HIV/AIDS Not resistant to infec on Type 2 Diabetes Average risk
Bipolar Disorder Average risk Colorectal Cancer Average risk Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk
Lung Cancer Lower risk than average Obesity Higher risk than average Schizophrenia Average risk
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #8)
Celiac Disease Average risk Cys c Fibrosis Non‐carrier Lactose Intolerance Average risk
Resistance to HIV/AIDS Not resistant to infec on Type 2 Diabetes Higher risk than average Bipolar Disorder Average risk
Colorectal Cancer Average risk Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk Lung Cancer Average risk
Obesity Lower risk than average Schizophrenia Higher risk than average
Melanoma Average risk
Results from the 23andMe “Spit Kit” (Sample #9)
Celiac Disease Average risk Cys c Fibrosis Non‐carrier Lactose Intolerance Average risk
Resistance to HIV/AIDS Not resistant to infec on Type 2 Diabetes Higher risk than average Bipolar Disorder Average risk
Colorectal Cancer Average risk Coronary Heart Disease Average risk High Blood Pressure (hypertension) Average risk Lou Gehrig’s Disease (ALS) Average risk
Lung Cancer Lower risk than average
Obesity Average risk
Schizophrenia Average risk
Melanoma Higher risk than average
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
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?
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 Estab‐ lished 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?
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 rele‐ vance 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?
