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Honors B.3 SUMMATIVE Transfer Task: Genetic Testing & Healthcare

Complete the questions and prompts using the information given in the questions using your own words and ideas. You can refer resources available on the Google Classroom. You are NOT allowed to use AI generated responses and/or copy and paste responses. Answer all questions using your own words. Any detection of AI generated responses will result in an automatic zero. Any detection of copy/paste responses will result in reduced points for each detected attempt.

In this task you will:

  • What are these genetic tests for and what information can they provide us?

Group 1

There has been a dramatic increase in the number of people getting genetic tests in the past few years. Figures 1 and 2 report how many requests and payments have been made to and by Medicare, the government healthcare system.

Source 1.1

Source 1.2

Group 2

Genetic tests with a family history

There are different types of genetic tests. Some tests are designed to look for a specific gene or genes. Usually, people get these kinds of tests when a certain genetic condition is known to be in their family. In the scenario below, you will investigate a case study of José, whose doctor sent him to get a genetic test.

José is a 15-year-old biological male who has been having problems with feeling sick after he eats. He visited the doctor several times. José’s father has both lactose intolerance, which keeps him from digesting dairy products, and celiac disease, which keeps him from digesting wheat. His doctor sent him to get a genetic test to find out if he inherited either of these conditions from his father. This information can help him adjust his diet so he can feel better.

There are two genes on chromosome 2 that code for proteins that are associated with digesting milk (lactase) and wheat (celiac). Consider the pedigree below showing chromosome 2 for José and his parents.

Source 2.1

Question 2a

Multiple choice

Without mutation or crossing over, what are the allele combinations of Lactase and Celiac that José could inherit from his parents? (There is more than one correct answer you need to only select ONE.)

Question 2b

Short answer

José’s doctor tells him that he has inherited BOTH Celiac 4 and Lactase 2. Explain in detail what could have caused this.

Group 3

Genetic tests without a family history

Some people get genetic tests even when they do not have a history of a genetic condition in their family. In this case, Victoria bought a genetic test from a company that would analyze her genome for 14 health concerns, including Age-Related Macular Degeneration. Age-Related Macular Degeneration (AMD) is the most common cause of irreversible vision loss among older adults. The disease results in damage to the central part of the retina, impairing vision needed for reading, driving, or even recognizing faces.

According to the genetic testing company, they test for the two most common variants associated with an increased risk of developing AMD. When Victoria gets her results back, it says both of the genetic variants they tested for are present. It also says that “People with this result have a slightly increased risk of developing AMD. Lifestyle and other factors can also affect your risk.” Currently, Victoria’s risk is low; however, it is possible for Victoria to be diagnosed with AMD later in life.

Question 3a

Short answer

Choose one of the claims that could explain how Victoria could get AMD. Provide evidence and reasoning to support your claim.

Choose one:

  • Claim 1: Victoria gets AMD caused by random mutation
  • Claim 2: Victoria gets AMD caused by exposure to the environment.

Question 3b

Multiple choice

The number of people with AMD varies around the world. While genetics determine many cases of AMD, other factors are associated with increased and decreased risk of AMD. Figure 5 below shows a high rate of AMD in some European countries. While these factors are correlated with AMD, we do not have evidence that they cause or prevent AMD. Choose the evidence below that would best support the following claim: Diet causes AMD.

Source 3b.1

Figure 5: Factors associated with AMD risk and diagnosis

Group 4

Determinants of Health Care: Insurance Disruptions

The table below comes from a study that put together results from several different studies. The researchers asked the question: Do health care insurance coverage disruptions make a difference in whether people get treatment for and survive cancer?

The researchers reviewed all studies systematically, and below is a typical sample of studies they reviewed. Adapted from Table 4. Health insurance coverage disruptions and treatment and mortality (Yabroff et al, 2020).

Source 4.1

Key: OR, AOR = Odds Ratio; HR, AHR = Hazard Ratio; CI = Confidence Interval, P = p-value

Key Terms for Interpreting the Table

  • Odds Ratio: a measure of the likelihood that an event will occur (e.g., survive from cancer), divided by the likelihood that it will not occur. The odds ratio of rolling 1 one on a six-sided die is ⅕ or .20.
  • Hazard Ratio: a measure of the effect of a treatment relative to a comparison group. In these studies, sometimes the reference group is those without insurance and sometimes those with insurance. When the Hazard Ratio is below 1 for a treatment group, it means that group is more likely to survive than the comparison group. When it is above 1, it means the treatment group is less likely to survive.
  • Confidence Interval: when planning studies, researchers decide on a confidence interval to use, which represents the probability or confidence they can expect to have in the estimate of an outcome (such as cancer survival). Confidence intervals are set typically at 95% so that the investigator can be more confident that any difference between treatment and control group averages are not due only to chance. To decide if a difference is significant, it is important to take into account whether the 95% confidence interval for the treatment group includes the mean of the comparison group. If it does, then the result might be due to chance.
  • P-Value: In an experiment, the p-value refers to the probability that any observed differences between treatment and comparison groups are due to chance. The researcher typically sets a cutoff value for p at a very low level so they can be confident that a result is not due to chance (typically, P < .05). The lower the p-value, the more confident the researcher can be in the result.

Question 4a

Short answer

What evidence supports the claim that this social determinant matters for who gets cancer treatment?

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