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GEN B.3 SUMMATIVE Transfer Task: Genetic Testing & Health Determinants

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 from the excerpt 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 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 in Source 4.1 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 Source 4.1

  • 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 from the table in source 4.1 supports the claim that this social determinant matters for who gets cancer treatment?

Group 5

Determinants of Health Care: Distance from Specialists

A number of studies have found that where people live matters for access to health care. Below are summaries of two studies about access to primary care providers (doctors people see on a regular basis for prevention and when they are sick) and access to major cancer centers (where people can get advanced treatments for cancer).

Source 5.1

Study 1: Residential segregation and the availability of primary care physicians. Health Services Research (Gaskin et al., 2012)

This team of researchers examined access to primary care physicians in neighborhoods with different demographic characteristics. They looked at whether neighborhoods made up of a majority of African American, Asian, or Hispanic people were more or less likely to be neighborhoods identified as a “shortage area” with fewer providers. The researchers controlled for other kinds of social determinants of health, like education level and poverty. That way, they could look specifically at the impacts of racial segregation on physician access.

Overall, 9.6 percent of people who identified as Asian and 13.2 percent of people who identified as White lived in primary care physician shortage areas. By contrast, 25.8% of people who identified as African American and 24.3% of people who identified as Hispanic lived in areas with physician shortages. Majority African American neighborhoods and majority Hispanic zip codes were more likely to be in areas with fewer primary care physicians. Majority Asian neighborhoods were less likely to be in shortage areas.

African American neighborhoods with a high level of segregation were more likely to be in neighborhoods with fewer physicians. That was not true for Hispanic and Asian neighborhoods with high levels of segregation.

The study did not examine segregation and access among the Native American population or other ethnic/racial groups.

Question 5a

Short answer

What evidence, if any, from Study 1: Residential segregation and the availability of primary care physicians. Health Services Research (Gaskin et al., 2012) supports the claim that this social determinant matters for who gets cancer treatment?

Question 5b

Short answer

What evidence, if any, from **Study 1: Residential segregation and the availability of primary care physicians. Health Services Research (Gaskin et al., 2012)**suggests this social determinant does NOT matter for who gets cancer treatment?

Question 5c

Short answer

What evidence from Study 1: Residential segregation and the availability of primary care physicians. Health Services Research (Gaskin et al., 2012) is there that this social determinant is a constraint for health equity or cancer treatment?

Question 5d

Short answer

What evidence, if any, from Study 2: Geographic access to cancer care in the U.S. (Onega et al., 2008) supports the claim that this social determinant matters for who gets cancer treatment?

Source 5d.1

Study 2: Geographic access to cancer care in the U.S. (Onega et al., 2008)

This team of researchers estimated how long it would take for people to travel to cancer centers across the country. For every place in the country, they used mapping tools to identify how long it would take to get to a National Cancer Center driving on major and minor roads. They estimated time based on the speed limit for those roads.

Analyses of access to NCI Cancer Centers by race/ethnicity show that Asians had the shortest travel times (median of 28 minutes, with a range of 15–66 minutes), and Native Americans had the longest (median of 155 minutes; interquartile range: 62–308 minutes). Hispanics and White people were similar in their proximity to the nearest NCI Cancer Center (median of 86 minutes for both; ranges of 23–229 minutes and 33–174 minutes, respectively). African Americans had a shorter median travel time (median of 69 minutes; range, 16–193 minutes) than Hispanics and White people.

People living in rural areas also had longer travel times to the nearest NCI Cancer Center.

The median travel time for suburban areas was nearly 2.5 times longer than for urban areas (57 minutes vs. 146 minutes).

Question 5e

Short answer

What evidence, if any, from Study 2: Geographic access to cancer care in the U.S. (Onega et al., 2008) suggests this social determinant does NOT matter for who gets cancer treatment?

Question 5f

Short answer

What evidence from Study 2: Geographic access to cancer care in the U.S. (Onega et al., 2008) is there that this social determinant is a constraint for health equity or cancer treatment?

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