Write a case scenario on genotyping the ApoE gene
Write up a case scenario on genotyping the ApoE gene addressing the following hypothetical situation described below:
Hypothetical Situation:
There is a particular rare cancer which occurs primarily in younger adults (about 80% of the cases initially exhibit symptoms typical of this cancer between the ages of 20-30 years of age) and there is no bias for gender. If this cancer is detected early, then there is a treatment which is highly effective for curing that kind of cancer. There was circumstantial evidence that this cancer could be a hereditary disease. Recently a study had determined that inheritance of certain variants/alleles (8 in all spread throughout the gene, including a couple within intronic sequences) within one gene, ApoE, acted as recessive alleles, and certain recessive homozygotes are very strong predictors of the disease. The researchers also found that heterozygotes of two different recessive alleles can sometimes act as a recessive homozygote. One of those alleles is ApoE4 which
exhibits the weakest association with the cancer (less than 2% of the cancer cases are linked to the ApoE4 allele homozygotes). In fact, when the ApoE4 allele is paired with a different recessive ApoE allele, the ApoE4 allele appears to be equivalent to the normal ApoE gene. Given all of the above, there is a strong desire to develop one or more tests to determine who are carriers of the recessive alleles and who are homozygous for the recessive alleles, including to be able to clearly genotype each of the 8 different recessive alleles.
Write up a case scenario containing the following elements:
- Identify at least three technologies which could do the intended job of genotyping the entire ApoE gene. Briefly describe those technologies (need supporting references) in terms of how they can perform the necessary functions to do the genotyping, and then state the pros and cons for that technology for the task of genotyping the ApoE gene. Select the technology which best supports this application and explain why it is the best of the three (be sure to examine other parameters outside of the technical capability, such as cost, time to result, etc.).
- Provide a plan as to how you would develop the test using the technology you selected. This will include a protocol for verification and validation of the test with anticipate outcomes which denote success. (references need to be included)
- Examine the potential ethical issues regarding the ApoE4 allele (i.e., its association with early onset Alzheimer’s disease). What are the ethical issues and costs of testing for ApoE4 genotyping? This should take into account the benefit of early detection of the cancer versus informing a younger individual that have a genotype indicating a distinct possibility of contracting early onset Alzheimer’s. There should be more than a couple of research articles cited for this section.
- What is your final product in terms of technology and the content (alleles) it can detect? Justify the final decision. Have a list of references of which more than half of them should be published research articles from peer-reviewed journals.
- This paper should be 5-10 pages long (NOT including reference list) using the APA style (double-spaced) format.
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