How do epigenetic marks get passed down from one generation to the next?
What are the different mechanisms that are thought to be involved? If epigenetic marks can be passed down from one generation to the next, what are the ethical implications of this? For example, could parents be held responsible for the epigenetic health of their children?
Category: Genetics
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)?
Students will individually complete a five (5) page paper in length (not including title and reference page), utilizing proper APA format. Students will analyze and synthesize peer reviewed literature that discusses a clinical decision support for management of populations with sickle cell anemia and incorporate the following genetic/genomic concepts:
Genetic/Genomic Pedigree, Family History & Assessment
Health promotion; risk-based genetic screening and testing,
Prescription of pharmacogenomic-based drugs,
Precision medicine or gene-targeted therapy, and
Use of genetic/genomic information in symptom management
Go to www.pubmed.com or the new site at https://pubmed.ncbi.nlm.nih.gov/Links to an external site.
In the search window enter the terms: “polytene chromosome” with the word inversion or with the word translocation
Press Search:
Filter articles for 2 criteria: A) Date range: the years 2012-2024, ) B) secondly the article you select to write about must be a “journal article”- that contains a material and methods section within the authors paper. Reviews and Techniques papers usually don’t have this.
You are looking for a paper where the authors went out and did experiments on fruit flies or other insects and extracted their polytene chromosomes from their salivary glands in order to do their studies.
Select each of those criteria from top left panel of web page;
Once you find an article that interest you……..download the pdf of the article…………read the article
Read the journal article about polytene chromosomes, take notes as you read it
Then—> put together a — TYPE WRITTEN— two page double spaced ( 1 inch margins) synopsis/summary
of the article you read .
Provide a separate title page with the name of the journal article you are writing a synopsis for and who the authors are..
Provide a separate page for citations and sources for “quoted” or paraphrased sections of what you wrote.
the rubrics chose any Gene name to make the presentation for. use FlyBase to obtain information of your gene of interest by name including the sequence, chromosome location, mutant phenotype and what the protein looks like- for example transmembrane protein or kinase. Basically, your introduction material is all on FlyBase. Then, go to NCBI. This YouTube video is quite helpful (above). I am managing to generate the necessary nucleotide and protein comparisons just using NCBI. Watch the movie. Also, NCBI makes the phylogenetic trees. https://www.youtube.com/watch?v=WRKQGwh_Mw0
Bio-informatics Presentation Rubric
– First slide- title of presentation and your full names
– Introduce gene, what the gene encodes, show mutant phenotype
– what is the function of the protein, why does the gene product produce the mutant phenotype?
– identify the genomic location for the gene
– Using NCBI, identify 2 other organisms that have a similar gene -OR- similar genes from different species
– Align the three DNA sequences. Where do sequences diverge
-Align the three protein sequences. Where do the sequences diverge?-
– Provide a phylogenetic tree for the three DNA sequences
– Provide a phylogenetic tree for the three protein sequences
– Conclusion slide including bibliography
Please provide an answer that is 100% original and do not copy the answer to this question from any other website since I am already well aware of this. I will be sure to check this.
Please be sure that the answer comes up with way less than 18% on Studypool’s internal plagiarism checker since anything above this is not acceptable according to Studypool’s standards. I will not accept answers that are above this standard.
No AI or Chatbot! I will be sure to check this.
Instructions: Please be sure to address and follow all of the instructions listed and attached.
Requirements: Few Lines Per Question Times New Roman Size 12 Font Double-Spaced APA Format Excluding the Title and Reference Pages | .doc file
lease provide an answer that is 100% original and do not copy the answer to this question from any other website since I am already well aware of this. I will be sure to check this.
Please be sure that the answer comes up with way less than 18% on Studypool’s internal plagiarism checker since anything above this is not acceptable according to Studypool’s standards. I will not accept answers that are above this standard.
No AI or Chatbot! I will be sure to check this.
Please be sure to carefully follow the instructions.
No plagiarism & No Course Hero & No Chegg. The assignment will be checked for originality via the Turnitin plagiarism tool.
Please be sure to include at least one in-text citation in each paragraph.
https://academic.oup.com/narcancer/article/3/3/zcab025/6313250
Use this article and other sources
The paper should be a summary of what you present. Your paper should be done on an individual basis and should include your interpretation of the information.
Present proper background.
Discuss all the experiments in the research paper.
Discuss the significance of the research.
Comment on whether the results of the experiments used in the research paper support the conclusions made.
What is the length of your term paper?
The paper should be 5-6 pages double-spaced.
Paper should be WORD document with Arial 11 font with no greater than 1 inch
margins. No PDF or GOOGLE Docs.
Included in the five pages should be figures (more than one if you wish).
However, figures should not add up to more than one of the five pages.
– In addition to the five pages, you should have a page that lists the references you used to write your paper. (The reference page is not included in your five pages).
References can follow any scientific format you wish. You are encouraged to use as many additional references as you need.
You are NOT allowed to use quotes in your paper. The paper should be written in your own words.
Be careful with plagiarism
The essay topic has debatable issues that involve ethical, legal, social or cultural factors as well as scientific
knowledge.
The essay should both explain the relevant genetics and weigh these other considerations.
Approach
the topic with an open mind, but don’t hesitate to express any well-reasoned opinion or recommendation.
Essay must be between 800 and 1400 words long. It must be your own work: all submissions will be scanned
for plagiarism. You may not present as your own work the output of any artificial intelligence text generator such
as ChatGPT, in whole or in part.
Write for a general, educated audience.
You are expected to do some research: starting with Wikipedia or other reputable
sources is OK, but check them, and use primary sources if possible. General, textbook-level genetic knowledge
need not be sourced, but relevant specific findings, and other writers’ analyses or opinions, should be referenced
with in-text citations and a bibliography. There is no required format for references and no specific number of
references is required. The bibliography is not included in the word count.
Below I have listed two prompts. Pick one of them.
1) Should older men have children? Women over 35 who are pregnant are often advised about the increased risk,
with advancing maternal age, of their child having a chromosomal aneuploidy such as Down syndrome, and are
offered prenatal testing. Recent findings suggest that the risk of neurodevelopmental disorders such as autism
increases significantly with paternal age. Why is this? Should older men be advised against fathering children?
After what age? Explain how the risk may arise, and assess whether a recommendation can and should be made.
Or
2) Should first-cousin marriages be allowed? The laws on cousin marriage vary widely between states in the USA.
First-cousin marriages are illegal in 25 states; some states recognize such marriages performed elsewhere, but
others do not. Laws and practices also vary between countries and cultures. Are there any good reasons, genetic
or otherwise, to prohibit or discourage first-cousin marriages? Your essay should make and justify a
recommendation to state legislators, to keep or change the current law in your state.