Double Helix Delights Inc. Presents: DNA DESTINY: A quest for understanding
Embark on an interactive journey of personal DNA discovery with our immersive, choose-your-own-adventure experience, delving into the molecule that defines you: DNA
Start Story
New Layer
Goal: use the information you receive to lead your character to the best possible health outcome
GOT IT! LET’s GO!
New Layer
Skip To End skip_nextBefore you begin…
Here’s a little “cheat sheet” with some helpful refreshers about common genetic terms. Understanding these will help you make smart decisions later on in the game.
I’M READY!
12/ 15
Skip To End skip_nextCHOice #1
Play as one of two different college students who want to be proactive about their genetic health:
Maria, a 21-year-old adopted Hispanic woman who does not know the health history of her biological family and is worried about her risk of breast cancer
OR
Peter, a 19-year-old Caucasian man who has recently heard that two of his older family members have been diagnosed with Alzheimer’s disease and is worried about his own risk for Alzheimer’s
Play as Maria
Play as Peter
01 / 15
Skip To End skip_nextPeter’s story
While surfing the web, you come across an ad for “Genie in a Swab,” a cheap at-home DNA testing kit which promises to assess your risk of developing Alzheimer’s. You simply spit in a tube and send it away to be tested. Your results come back positive for the ε4 variant in the APOE gene; the report tells you that this means you have an increased risk of Alzheimer’s. You are confused as to what this all means. Do you:
Do a web search for APOE and risk of Alzheimer’s
Call your doctor about your results
02 / 15
New Layer
Skip To End skip_nextDOWN THE RABBIT HOLE…
You find an overwhelming amount of confusing and conflicting information about the APOE gene and Alzheimer’s. You become convinced you will eventually develop the disease. All you can think about is your fate of developing Alzheimer’s, and become overwhelmed and anxious. You make drastic lifestyle changes in the hopes of decreasing your risk, but these changes make you miserable.
Try Again
04/ 15
Skip To End skip_nextA SECOND OPINION
Your doctor refers you to a genetic counsellor, Tim. He explains that even though possessing the ε4 variant of the APOE gene may be associated with an increased risk of Alzheimer’s, it does not guarantee you will develop the disease.
Tell me more!
05/ 15
Skip To End skip_nextMaria’s story
Your friend tells you about an at-home DNA testing kit, “Spit ’n Sequence”, which she says is able to assess your risk of breast cancer; you excitedly send in your sample. Your results come back negative for cancer-associated mutations in the BRCA1/BRCA2 genes, two genes closely associated with the development of breast cancer. Do you:
Celebrate! You are in the clear
Call you doctor to discuss the results
07/ 15
Skip To End skip_nextin the clear?
Thinking you don’t need to worry about breast cancer, you do not undergo regular mammograms and other testing procedures as you get older. When you turn 40, you are diagnosed with late-stage breast cancer.
Try Again
08/ 15
Skip To End skip_nextPiecing it together
Alzheimer’s disease, like many other disorders that at-home DNA-testing kits assess risk of, is considered a complex trait [3]. This means that its development is determined by the interactions of many different genes, each of which play a small role in the overall development of the disease. Variants in some of these genes may increase the likelihood of getting the disease-these are called ‘risk genes’. Imagine a puzzle with thousands of pieces, each representing a different gene. Completing the puzzle requires assembling these pieces in a specific way, with each piece contributing to the overall picture, in this case a disease. However, some pieces may be missing or may fit in multiple places, making the puzzle much more challenging to complete.
So How is APOE involved?
09/ 15
Skip To End skip_nextALL ABOUT APOE
“APOE1 is the most common risk gene associated with late-onset Alzheimer’s disease. It stands for apolipoprotein E, and functions in the metabolism of fats in the body [4].
APOE has three main variants:
APOE ε2: The least common form; associated with a reduced risk of Alzheimer’s [4].
APOE ε4: A slightly more common form; associated with an increased risk of Alzheimer’s [4].
APOE ε3: The most common form; neither associated with an increased risk nor a decreased risk [4]. ”
So what does this mean for me?
10/ 15
Skip To End skip_nextTim’s explanation…
“While this is the gene most commonly tested for to determine Alzheimer’s risk, it can not provide a reliable measure of someone’s risk of developing the disease. Someone can have two copies of the ε4 variant and never develop Alzheimer’s [1]. Many other genes are known to be involved in the development of Alzheimer’s, and it is likely that not all related genes have been discovered [3]. At-home DNA tests often do not account for this complexity in their assessments, an issue that is also seen in similar tests for other complex diseases. ”
I think I get it!
11/ 15
Skip To End skip_nexta healthy balance
You feel much better about your risk for Alzheimer’s. Your genetic counsellor recommends some small lifestyle changes to help reduce your risk; you’re confident you’re doing what’s best for your health, and can go about your life without excessive worry or fear.
You Win! Congratulations!
12/ 15
Skip To End skip_nextA closer look…
Your doctor sends you to see Carol, a certified genetic counsellor. Carol sends you for clinical genetic testing.
BUT I ALREADY DID A TEST???
01 / 15
Skip To End skip_nextMORE TO THE STORY…
The counsellor explains that for many diseases, especially cancer, a large number of risk-associated variants exist. In regards to BRCA, over 4000 risk-associated variants are currently known [5]. Furthermore, the prevalence of these variants differs between different ethnic groups [6]. However, most at-home DNA tests assess only a small fraction of the total number of variants, and largely look at variants common only in European populations [6]..
I SEE WHY CLINICAL TESTS MIGHT BE A GOOD IDEA
14/ 15
Skip To End skip_nextTIME FOR answers…
Your clinical genetic tests reveal that you do possess a risk-associated variant in the BRCA1 gene, one that is more frequent in Hispanic populations. Your genetic counsellor recommends that you undergo frequent screening procedures. At age 35 you are diagnosed with breast cancer, but because it was detected at an early stage, treatment was extremely successful.
YOU WON! CONGRATULATIONS!
15/ 15
Skip To End skip_nextIn the end…
DNA is not necessarily your destiny and at-home DNA tests are not crystal balls that you can use to predict the future of your health. While they can be interesting and educational, they are not a replacement for clinical DNA testing.
NOW I KNOW!
01 / 15
At-home dna tests for disease risk do not nearly capture the biological, emotional, or cultural complexities of genetic testing as well as clinical tests do. This can lead customers to make misinformed decisions that negatively impact their health. However, when DNA testing is done in the clinic, a trained genetic counsellor is there to help someone not only understand their genetic health, but also to help manage the emotional and physical consequences of genetic test results. THe end
References
1. U.S. Department of Health and Human Services. (n.d.). Alzheimer’s disease genetics fact sheet. National Institute on Aging. https://www.nia.nih.gov/health/genetics-and-family-history/alzheimers-disease-genetics-fact-sheet#:~:text=Having%20two%20copies%20of%20APOE,allele%20never%20develop%20the%20disease.
2. Hereditary breast cancer and BRCA genes [Internet]. Centers for Disease Control and Prevention; 2023 [cited 2024 Mar 6]. Available from: https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/index.htm
3. Andrews SJ, Renton AE, Fulton-Howard B, Podlesny-Drabiniok A, Marcora E, Goate AM. The complex genetic architecture of alzheimer’s disease: Novel insights and future directions. eBioMedicine. 2023 Apr;90:104511. doi:10.1016/j.ebiom.2023.104511
4. The role of genes in your alzheimer’s risk [Internet]. Mayo Foundation for Medical Education and Research; 2023 [cited 2024 Mar 7]. Available from: https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzheimers-genes/art-20046552
5. 23andMe. BRCA genes – 23andme [Internet]. 23andMe Canada; [cited 2024 Mar 5]. Available from: https://www.23andme.com/en-ca/brca/#
6. DePolo J. At-home genetic tests miss many mutations [Internet]. Breastcancer.org; 2023 [cited 2024 Mar 6]. Available from: https://www.breastcancer.org/research-news/at-home-genetic-tests-miss-mutations
7. Canva Pro [Mobile Application]. [cited 2024 Mar 8]. Available from: https://www.canva.com/pro/
8. Biorender Software [Mobile Application]. [cited 2024 Mar 8]. Available from: https://www.biorender.com/
9. Slider Revolution [Mobile Application]. 2023 [cited 2024 Mar 8]. Available from: https://www.sliderrevolution.com/