Human Genetic Variation
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Activity 5 - Making Decisions in the Face of Uncertainty

Question 2 What are some of the family issues that arise in this counseling session?

Beth's mother feels guilty about her breast cancer and about the possibility that she has passed on the associated mutation. The issue of blame also arises, as well as the question of what Beth will do with the information if the test is positive. Note that the counselor stresses the importance of privacy and confidentiality. Emphasize for your students that genetic counselors are trained to handle the social and emotional aspects of counseling as well as the scientific aspects.

Question 3 What reasons does the genetic counselor give for not testing Jennifer? Do you agree that children under 18 should not be tested?

The counselor's reasons are rather nonspecific, simply that "teenagers often have different perspectives about developing breast cancer." Students' views on the testing of children under 18 will vary. Insist, however, that they provide concrete explanations for their positions and be alert to misunderstandings of the science.

The decision for a health care provider to conduct a genetic test is based on a variety of factors. Health care professionals are trained to reduce risks to their patients, including psychosocial risks. Anxiety and depression may arise in response to a positive test. A similar issue received attention in the mid-1980s, when health care professionals had to decide how to handle testing for exposure to the AIDS virus, HIV. At that point, the connection between a positive test for exposure to HIV and development of the fatal disease AIDS was not yet clear (although the correlation has since been established to the satisfaction of virtually all scientists). Keep in mind that not everyone who inherits an altered form of BRCA1 or BRCA2 develops breast cancer; thus, knowing that one carries such an allele may trigger needless anxiety.

Other factors that a health care provider considers when discussing genetic testing include the following questions:

The issue becomes even more complex when the patient to be tested is a minor, that is, under 18 years of age. The request for a genetic test may come from the parents or from the minor. When the minor is an adolescent, the issue becomes particularly complicated because the patient may exhibit a considerable degree of autonomy regarding his or her health care decisions. Experts agree that in these cases the primary goal of genetic testing should be to promote the child's well-being. For example, the child who tests positive may be overindulged or may be treated as a scapegoat. Both of these problems can occur, however, even in the absence of testing. The testing of a child (or indeed any other family member) also has implications for all members of the family. In some cases, this forewarning will be welcomed; in others, it may be unwanted. Genetic testing of a child will ease some aspects of uncertainty, but people differ greatly in their response to such news.

In the case of genetic testing for mutations in the BRCA1 gene, most health care providers and genetic-testing centers adhere to a policy that denies tests to minors. This denial extends to requests from the parents, who are the legal guardians of the child's health. The psychological effects can be mixed. Whereas some individuals prefer the release from uncertainty, others could view a positive result as a death sentence and react in ways that are destructive to themselves or their families. Genetic testing requires informed consent, and some geneticists argue that this requirement automatically rules out children, and even teenagers, who generally are judged incapable of providing such consent. This view of minors, however, may be far too broad and may not be realistic. Some specialists are beginning to recognize that some adolescents and young children have sufficient autonomy in consent and decision making to make such decisions, and recommend that the desires of these youths should be taken into account. In any event, one must weigh the balance of potential harm and benefit in reaching a decision about testing a minor.

One outcome of the current policy is to delay the decision to test until the individual is an adult and can make the decision, rather than letting parents remove this option by making the choice themselves. Note that a change in policy most likely would result in parents being permitted to make the decision, rather than leaving the decision to the minor in question. Either way, issues of ethical decision making will arise.

Question 4 Beth's mother says, "I'm not sure more information is better." Do you agree with her? Explain your answer.

Answers will vary.

Segment 3: The Test Results

Question 1 Beth and her mother have had the genetic test. What new information have we learned?

Beth and her mother are positive for the BRCA1 mutation. Beth has a lifetime risk of perhaps about 60 percent of developing breast cancer. This number is down from original estimates, which were as high as 87 percent. Some recent data suggest an even lower risk figure than 60 percent. In fact, as is often true when a new medical test becomes available, the exact figure is still not yet known. Further, it appears that the exact risk figure may vary, depending upon the particular mutation in the BRCA1 that an individual woman carries.

Students have also learned that Beth may not develop breast cancer even though her test was positive and that Beth can do a number of things (breast self-examinations and mammograms, for example) to help detect any cancer early and, therefore, to begin early treatment.

Remember to emphasize that Beth and her mother were tested for mutations in the BRCA1 and BRCA2 genes, not for cancer.

Segment 4: A Diagnosis of Breast Cancer

Question 1 What new information have we learned about Beth?

It is now three years after the genetic test, and Beth has been diagnosed with cancer in one breast. There is a high risk of cancer in the other breast.

Question 2 What major decisions do Beth and her husband discuss in this segment?

First, they discuss whether Beth should have both breasts removed, and second, they consider whether to tell Jennifer that she is at risk for the BRCA1 mutation. Note that even removal of both breasts does not guarantee that the cancer will not appear elsewhere or even appear in the remaining breast tissue.

Question 3 What do you think Beth and Charlie should do? Why?

Answers will vary, but make certain that students provide sound explanations for their positions. Again, make sure that the science is correct.

Segment 5: Jennifer's Decision

Question 1 What new information emerges in this segment?

Beth has had a lumpectomy, and Jennifer has not been tested. Emphasize that the chance of survival increases with early diagnosis.

Question 2 What is Jennifer's primary concern about the test?

She is concerned that potential employers and insurers will discriminate against her if they find out she has a high relative risk for breast cancer.

Question 3 Do you think employers or insurers should be able to deny employment or insurance to a person who has a genetic predisposition to a disease such as cancer? Explain your position.

Answers will vary. Inform students that at present many states have laws that prohibit health insurers from accessing and using genetic information in a discriminatory way. In addition, the federal Health Insurance Portability and Accountability Act (HIPAA) prohibits those who issue commercial, employer-based, group health plans from discriminating against individuals on the basis of information gained from genetic tests.

Regarding employment discrimination, the Equal Employment Opportunity Commission extends "Americans with Disabilities" protection to individuals who experience discrimination based on genetic information related to illness, disease, or other disorders.

4. Close the activity by challenging students to identify the questions that now face Jennifer, Beth's daughter, about her own health and personal welfare. Encourage students to think deeply about these questions. For each question that they identify as facing Jennifer, have them determine her options and begin to identify arguments that she might use in support of choosing one option over the other. Invite neighboring teams to discuss these questions. Then, use the following questions to stimulate a brief, final class discussion about the activity.

assessmentUse students' answers to these questions to assess their understanding of the activity's major concepts.

. Our understanding of and ability to identify genetic differences among us has increased remarkably in the last few decades and continues to increase. How might Beth's and Jennifer's decisions have been different 50 years ago? What advantages does our knowledge of human genetic variation bring us? What questions does it also raise?

Fifty years ago, Beth and Jennifer would not have been faced with the decision about whether to have these genetic tests. They would have had the option of lumpectomy or radical mastectomy if cancer was discovered. Our increased knowledge of human genetic variation has improved our understanding of the relationship between certain variations and disease and enabled us to test for some of these genetic variations. New knowledge and abilities, however, raise questions about whether we should test and about what we should do with the resulting information. The ability to test also raises the question of whether we should or will come to treat people who are genetically predisposed to illness as if they already are sick, even if they are not and may never be. These people are sometimes referred to as the "asymptomatically ill."Ask the students to react to that designation.

puzzle pieceInsist that students apply the saying to this activity. Then, to close the module effectively, ask students to apply the saying to our growing knowledge of human genetic variation (in general). Students should see that this knowledge offers us new opportunities and choices, but it also brings new challenges.

. How does this activity illustrate the old saying that knowledge plus choice equals power?

The more we learn about a given situation—for example, our status with respect to the BRCA1 and BRCA2 genes—the greater our ability is to make decisions and control our own destiny, so long as the choices are available. The importance of choices emerges in this activity in at least two ways. First, Beth and Jennifer must be confident that information that results from the test will not be used against them. Otherwise they may feel, as Jennifer does, that they are not really free to chose whether to have the test. Second, the general policy not to test children under 18 for mutations in the BRCA1 or BRCA2 genes has restricted the choices for people under 18. This limits their access to knowledge about themselves and restricts their power to make decisions about their own lives.

Potential Extensions

Extend this activity by challenging students to connect what they learned in Activity 5 with what they learned in the two preceding activities. For example, ask students to connect Activity 5 with Activity 3 by suggesting how discovering mutations that predispose people to the development of cancer might help scientists develop new approaches to treating cancer. Then, assign students to learn more about this question by reading the article "Making headway against cancer" by J. Rennie & R. Rusting in the September 1996 special edition of Scientific American.

Likewise, connect Activity 5 with Activity 4 by asking students to research how discovering mutations that predispose people to the development of colon cancer has led to the creation of screening and counseling programs that are already saving lives by alerting people to their increased risk and helping them make good lifestyle and health care choices.

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