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1. Let’s look at a pdf version of 23andme’s Breast Cancer tutorial that a user has to click through before unlocking a BRCA1/2 report: https://medical.23andme.com/wp-content/uploads/2019/04/BRCA-Tutorial.pdfLinks to an external site.
a. How good a job do you think this tutorial does in explaining cancer and hereditary cancers? Why?
b. Does the tutorial mention whether these genes have any effects besides Breast and Ovarian Cancer in women, and if so, what?
c. Does this tutorial mention the effect of these variants on men? What are they?
d. Does this tutorial mention what it means to have a negative result for the variants tested for by 23andme?
e. Does it make sound like genetics and the variants 23andme test for are a big contributor of overall breast cancer risk to make their product seem more impressive? Is there a visual representation of this given?
f. Opinion: as a user would you think this is actually better than a browsewrap (or even clickwrap) contract, or is it a waste of time that you’d be annoyed to click through?
2. Having looked at the tutorial to unlock the report, let’s look at the actual BRCA test result now.
a. How many variants were tested for?
b. Why were these variants chosen?
c. Are these the only variants in this gene that cause cancer risk to increase?
d. Why might other variants not be chosen to include in the test?
e. How big an impact does a BRCA1 variant have on breast and ovarian cancer risk: more than or less than a BRCA2 variant? f. Is this a dominant or a recessive trait?
g. Does 23andme recommend any additional tests before taking medical action on this report?
h. What are the chances that someone’s genotype is wrong, and what is the regulation that makes sure this number is acceptably low?
i. What are three different actions this report suggests to reduce risk?
j. Do you think this report does a good job of highlighting the importance of talking to medical professionals, or do you think it attempts to administer medical advice?
k. Why does 23andme suggest that people should discuss this result with their family: just to sell more genetic test kits?
l. Is the variant looked for more common in a particular ancestry group (heads up that this might be referred to as an ethnicity by 23andme, even though that’s not exactly right)?
m. Does this mean it’s ONLY found in this ancestry group? (More information on this variant in lecture slides if you need help, but you can just answer generally.)
n. What does that mean for the residual risk of an individual who is NOT in this ancestry group as compared to someone who is in this ancestry group?
o. Does overall ancestry matter or just where the chromosome 17 and 13 patches that carry these genes are from?
p. Does this report and the tutorial before it do a good job of using sex or gender to describe which aspects are relevant to this phenotype? Note that individuals who go on gender-affirming hormone therapy start having a cancer risk that approximates their gender rather than their sex assigned at birth, depending on the duration of hormone treatment — but not all trans individuals chose to undertake hormone therapy.
q. If you were a genetic counselor and you were trying to assess breast cancer risk, would you want to have a medical record or pedigree (visual chart of family structure) that depicted gender, sex-assigned-at-birth, or both? What would you find the most useful and sensitive way to present that information?
3. Let’s compare this to a company that is not technically direct-to-consumer, but direct-through-physician. You can chose *either* Invitae or Color’s website to explore, pretending you are a consumer who is interested in being proactive about assessing your risk for hereditary disease, including cancer susceptibility (perhaps because you don’t know your family health history or because you know that your family health history might not accurately represent genetics). Work in section with someone who is looking at the other company’s website, and then report back about what it looks like. (If you’re doing this outside of section, look at both.)
a. Can you as a consumer order a test? (Don’t put in credit card info, but go so far as to give it a try.)
b. Who is the physician involved: does it have to be your doctor or can it be someone on payroll at the company?
c. Could you bill insurance? Do you have to? (E.g. does your insurance even need to know you took this test?)
d. If this result shows up on your medical record, what kind of insurance would it hamper your ability to get?
e. Do you, as a consumer, get access to some kind of medical professional if you have a positive test result? If so, what kind?
f. Let’s watch Invitae’s video: https://vimeo.com/871895311Links to an external site. – do you think that a video like is a better or worse way of communicating about the limitations of a test than the tutorial click through that 23andme offered?
4. Let’s look at a sample positive test result for Invitae (here: https://www.bumrungrad.com/getattachment/6a410a19-b98b-43c5-a20c-be1cca9ceeb1/Proactive-Cardio.pdf?lang=en-USLinks to an external site. ) and a negative test result for Color (here: https://www.color.com/wp-content/uploads/2022/07/neg_h30_F_20220713.pdfLinks to an external site. ) – both for the proactive “I just want to know my disease risk” kind of testing.
a. What is different about the view that these companies are taking of cancer susceptibility as compared to 23andme, in terms of number of genes?
b. What is different about the view that these companies are taking of each gene, in terms of what view of this part of the genome they are taking?
c. Do Invitae and Color test for all of the diseases that 23andme has been approved by the FDA as offering health tests for? Check the list of genes. d. What are three differences you note between these reports and the 23andme’s test report above?
e. Do you think that the positive predictive value of the test is accurately described by the report that tells someone they have a disease-associated variant? f. Do you think that the negative predictive value of the test is being accurately described by the negative test report?
g. If you were to order a test for proactively addressing your genetic disease risk, which company would you go for and why?
5. Let’s look at Parkinson’s disease risk. This report is for an individual who is a carrier for a variant that increases Parkinson’s Disease Risk but is ALSO associated with Gaucher Disease Type 1 (when homozygous).
a. When one variant is associated with multiple, not-obviously-related traits/phenotypes/disease conditions, that’s an example of _____? (insert a vocab word)
b. What is the general population risk of Parkinson’s disease by age 80?
c. Assuming the consumer who purchased this report is of Ashkenazi Jewish ancestry, what is their risk of Parkinson’s disease by age 80? How much is this increased over the general population risk?
d. How does this compare to Google founder Sergey Brin’s rest result (he has a variant in another gene called LRRK2, that confers a 25% disease risk)?
e. Do most people with the variant (listed in this report) go on to develop Parkinson’s disease?
f. Do the majority of people with Parkinson’s disease have this variant? (Consider the quote from Sergey’s blog at http://too.blogspot.com/2008/09/lrrk2.htmlLinks to an external site. — “There are some cases of familial Parkinson’s but they are quite rare. Over the past few years researchers have been honing in on the genes that are responsible for those cases.”)
g. The previous two questions suggest there is not a strong clinical validity to the test (meaning, the genotype is really strongly associated with the disease). Is there a clinical utility that is referenced on the report (meaning concrete steps that doctors or patients can to improve health outcomes as a result of knowing)?
h. In spite of this, Sergey found personal utility in knowing his increased risk genotype, like in motivating his exercise regimen. If you had done 23andme, would you have found enough potential value to click through to unlock this report? Explain why or why not. i. People who sign up for StrainGenie to be matched with personalized cannabis strain recommendations receive this information (along with Alzheimer’s APOE status) dropped into the middle of their report. Would you have expected this result to be a part of StrainGenie’s offerings, given that the company promises to provide “genetic analysis to match you with the right cannabis products”? j. Is the link to cannabis products one that seems evidence-based to you from the report? k. Do you think that Alzheimer’s Disease susceptibility should be a locked report like 23andme offers, or just included with other analysis like StrainGenie?
l. Can you tell what the individual’s APOE alleles are from this report? Is it clear what is meant by “slight” risk?
m. What are three potential harms to a user of finding out APOE and Parkinson’s risk in this format (note this is the entire part of the report dealing with Parkinson’s and Alzheimer’s)?
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