Harms vs.

Benefits:
Ethical Issues in Genetic
Testing
Bioethics Module 4
Issues Explored in this Unit

What are the potential harms and benefits of

getting genetically tested?

Who should get to decide whether an

adolescent will get genetically tested?
Issues Explored in this Unit

How do factors such as age at disease onset,

the predictive value of the test, and whether
there is effective medical therapy for the
condition affect how much decision-making
power an adolescent should have for a genetic
test?
Issues Explored in this Unit

How can genetic testing be done so that the

confidentiality of an individual’s personal
medical information is protected?
Is More Information Always Better?
Is More Information Always Better? (I)
You’re with a group of friends, and some are playing computer games
while others are about to watch a movie in the next room. One of your
friends, Chantal, likes the games but decides to watch the movie
instead. Five of you, including Chantal, decide to watch the movie.
Once the movie starts, you realize that you have already seen the
movie and that the ending is very scary. Although your other three
friends love the suspense of scary movies, Chantal has been
traumatized by scary movies in the past. You’re now faced with this
question:
Should you tell Chantal the scary ending?
Is More Information Always Better? (II)

Before answering the question, you need to

have all the information. You have some
relevant facts already.

What else do you need to know to make a

decision?
What questions do you have?
Is More Information Always Better? (III)

Should you tell Chantal anything about the

ending? Why or why not?
Is More Information Always Better: Genetic Testing

Many genetic tests do not predict a disease

with certainty but allow people to learn about
whether they have an increased chance of a
particular disease or condition arising later in
life. Different people will decide differently
about whether they would want that
information.
Is More Information Always Better: Genetic Testing

What if there was a genetics test that could let

you know whether you were more likely than
many other people to develop Alzheimer’s
disease.

Would you want to know?

Medical Records: Alzheimer’s Test Result

Imagine that the envelope contains

information about your chance of getting
Alzheimer’s disease.
Medical Records: Alzheimer’s Test Result

Your “test results” contain information about

the gene for apolipoprotein E (APOE), found on
chromosome 19, which is known to be a
predictor of Alzheimer’s disease.
Apolipoprotein E (APOE): 3 Alleles

Substitution Mutation
-E2: Protection against developing Alzheimer’s
disease
-E3: Does not affect your risk of developing
Alzheimer’s disease (majority of people)
-E4: Increases a person’s chance of developing
Alzheimer’s disease
Apolipoprotein E (APOE): 3 Alleles

-Some people have inherited a copy of E4 from

one parent, and

-A very small percentage (1 to 2 percent of the

total population) has inherited a copy of E4
from both parents.
Apolipoprotein E (APOE): 3 Alleles

-People who have inherited a copy of E4 from

both parents have the greatest increased
chance of developing Alzheimer’s, as seen on
the chart on Master 4.2, Part I.
Apolipoprotein E (APOE): 3 Alleles
Apolipoprotein E (APOE): 3 Alleles

APOE results for the class reflect the

distribution of the three APOE alleles in the
human population as a whole. Just as only 1 to
2 percent of the total human population has
inherited two copies of the E4 version, the
class should expect only one student’s
envelope to contain the slip of paper with
E4/E4 on it.
Apolipoprotein E (APOE): 3 Alleles

In a few minutes, you will choose whether to

open your envelopes.

Before you make that decision, though, you

need to gather more relevant, scientific
information.
Apolipoprotein E (APOE): 3 Alleles

Master 4.2, Part II

-Read Part II & underline information that
might influence your decision.
-Once done, record your decisions and
supporting reasons on Master 4.2
Apolipoprotein E (APOE): 3 Alleles

Reasons for opening the envelope?

Reasons for not opening the envelope?

Apolipoprotein E (APOE): 3 Alleles

Who decided not to open their envelopes?

Max’s Thyroid Cancer Case
Max’s Thyroid Cancer Case

Different tests yield different kinds of

information.

Medical treatment is possible in response to

some genetic tests but not others.
Max’s Thyroid Cancer Case
Max is 15 years old. Many of Max’s relatives on his
mother’s side died quite young (20s, 30s, and 40s) from
thyroid cancer. Max’s mom died several years ago, but not
from thyroid cancer. There are many genetic reasons for
thyroid cancer, including an inherited mutation that leads
to a rare disorder called MEN II (multiple endocrine
neoplasia II). The MEN II−causing mutation leads to a 100-
percent chance of a kind of thyroid cancer that will be fatal
if left untreated. The thyroid cancer arises early in life,
sometimes even during adolescence.
Max’s Thyroid Cancer Case
Max’s doctor informs Max and his father that there is a
genetic test for this inherited mutation. (None of Max’s
other relatives have ever been tested.) If Max tested
positive, he could soon have surgery to remove his thyroid
gland so that he would never develop thyroid cancer.
Without his thyroid, Max would have to take a daily pill
containing a hormone called thyroxine, an important
chemical produced by the thyroid gland, for the rest of his
life.
Max’s Thyroid Cancer Case
The doctors would determine the appropriate dosage for
Max. If the dosage isn’t quite right, Max could temporarily
experience side effects such as sweating, muscle cramps,
and headaches. However, if he experienced these
symptoms, the doctors would adjust the dosage, and the
side effects normally disappear. If people without thyroids
fail to take their medication for long periods of time, their
metabolism is dangerously affected; eventually, failure to
take the medication can be fatal.
Max’s Thyroid Cancer Case
Max refuses to have the genetic test, insisting it is his life.
He doesn’t want this information, says he wouldn’t want
preventive surgery, and doesn’t like the idea of daily
medication after the surgery. Max’s father and doctor still
insist that he should have the genetic test.
Max’s Thyroid Cancer Case

What are some ethical

questions raised by this
case?
Max’s Thyroid Cancer Case
Ethical Question
Who should decide whether Max will
have this genetic test?
Should Max decide?
Should his father decide?
Should his doctor decide?
Why?
Max’s Thyroid Cancer Case

Share your preliminary thoughts with a

partner at your table.
Gathering Relevant Facts and Concepts
Gathering Relevant Facts and Concepts
Master 4.4: Thyroid Cancer, MEN II, & Genetic
Testing—Relevant Facts.
-Read & underline the most important
information.
Master 4.5: Genetic Testing-Key Concepts
-Read & underline the most important
information.
Gathering Relevant Facts and Concepts
MEN II thyroid cancer and the genetic test for it
have unique attributes:
-Disease onset at a very young age (teens to
30s),
-Nearly 100-percent positive predictor of future
thyroid cancer, and
-Preventive surgery is available.
Gathering Relevant Facts and Concepts

Complete Master 4.6: Thyroid Cancer, MEN II, &

Genetic Testing—Checking for Understanding
Stakeholders
Stakeholders

Who or what will be affected by the way the

question gets resolved—in this case, who
besides Max stands to be affected by whether
Max is tested?
Stakeholders

As you can see from the pedigree that follows,

Max has multiple relatives who have died of
thyroid cancer, including his grandfather Nick.
Stakeholders
Stakeholders

However, remember that there are many

different types of thyroid cancer; there are
many forms of thyroid cancer, and that Nick,
Harriet, and James could have died of a form
unrelated to the one associated with MEN II.
only a small percentage of thyroid cancers are
MEN II.
Stakeholders
Therefore, the fact that Max has relatives who
have had thyroid cancer does not necessarily
mean that MEN II runs in his family.

Diane has been cancer-free, though she has

high levels of thyroxine, which could be a
warning sign of thyroid cancer in the future.
Stakeholders

There is no history of thyroid cancer on Pierre’s

side of the family.
Answer Questions on Master 4.3
 Master 4.7
What Impact Would Max’s Newly Discovered
Mutation Have on Him and Others?

T = MEN II thyroid cancer, as a result of a

specific mutation
t = no MEN II thyroid cancer
 Master 4.7
Assume Max is Tt because of no family history
on his father’s side

Assume Max’s dad (Pierre) is tt.

 Master 4.7

Complete 4.7 with a partner by applying your

knowledge of genetics to the questions.
Relevant Ethical Considerations
Ethical Question

Who should decide whether Max will

have the MEN II thyroid cancer genetic
test?
Ethical Considerations

Respect for Persons

&
Harms vs. Benefits
Respect for Persons
U.S. society usually attempts to give adults as much choice
and as much ability to decide their own course of action as
possible. In bioethics, the belief is that one very important
way to respect adults is to allow them to make their own
choices so they can lead the lives they feel are best for
them. However, Max is less than 18 years old, so there’s
tension between Max, who wants to make his own
decisions, and the law, which gives his parents that
authority.
Respect for Persons

What are some reasons for why Max

should be able to decide whether he
takes the test?
Respect for Persons

What are some reasons why Max’s

father should be the decision maker
and, therefore, limit Max’s ability to
choose his own course of action?
Harms vs. Benefits
In trying to decide whether Max’s father should
trump Max’s preference and insist on the test,
it’s important to determine what benefits and
harms are associated with the test. You will
now have the chance to identify the full range
of harms and benefits associated with having
the genetic test.
Harms vs. Benefits

Master 4.8: Thyroid Cancer and Genetic

Testing—Harms and Benefits
Harms vs. Benefits

Master 4.9: Your Tentative Thoughts

Who Should Get to Decide Whether
Max Gets Tested?
Harms vs. Benefits

Who should get to decide

whether Max gets this test?
Harms vs. Benefits

Vote!
Who Should Have Access to the Results?
Confidentiality

Should Max’s father be able

to distribute—without Max’s
permission—Max’s genetic
information to different
members of the family?
Confidentiality

Brainstorm a list of people in Max’s

family who might benefit from knowing
this newly discovered information, and
write each person’s name on a
different piece of poster paper.
Confidentiality

Brainstorm a list of people in Max’s

family who might benefit from knowing
this newly discovered information.
Confidentiality

Use the red marker to record reasons

in favor of not telling that person about
Max’s mutation and the green marker
to record reasons in favor of telling
that person
Confidentiality

Present your poster.

Confidentiality

Master 4.10: Camilla’s Case—Colon

Cancer and Genetic Testing
Confidentiality

Master 4.11: About Retinitis

Pigmentosa