personal genetics education project
Social, Legal and Ethical Issues in Personal Genetics
Title: What is Personal Genetics?
Aim: How might new advances in personal genetics impact our lives and
medical decisions?
Time: 1-2 days
Guiding Questions:
● How would you decide whether or not to get your genome sequenced?
● How might genome sequencing change health care?
● What are the benefits and risks to you and other stakeholders?
Learning objectives:
After completing this lesson, students will be able to:
● Grasp the rapid rate at which technology is developing
● Define what a personal genome sequence is and how it differs from
typical genetic testing
● Analyze why people would or would not want to know more about their
genome
Materials: Projector or Smartboard, laptop, paper, tape, handouts (at the
end of lesson plan)
Common Core Standards:
RH.11-12.1. Cite specific textual evidence to support analysis of primary and
secondary sources, connecting insights gained from specific details to an
understanding of the text as a whole.
RST.11-12.2. Determine the central ideas or conclusions of a text;
summarize complex concepts, processes, or information presented in a text
by paraphrasing them in simpler but still accurate terms.
RST.11-12.7. Integrate and evaluate multiple sources of information
presented in diverse formats and media (e.g., quantitative data, video,
multimedia) in order to address a question or solve a problem.
www.pgEd.org 1
Before the lesson:
If you have not done a full unit on genetics (particularly if this lesson is used
in a health, ethics, or non-science class), explain to students that many
diseases are passed down from parent to child through their genes. On their
own, students can learn more about heredity, genes and traits at University
of Utah’s award-winning site: http://learn.genetics.utah.edu/. Click on the
“Heredity and Traits” link in the box on the left under Basics.
High school and college age students are likely to become independent
health care consumers at about the time that personal genome sequencing
becomes an affordable and accessible option for many people. This lesson
introduces them to the recent advances in genetics, genetic testing, and
personal genome sequencing, and presents some of the decisions and
ethical challenges an individual may face regarding the use of this
technology. It also highlights some of the likely benefits of personal
genomes, such as gaining the ability to act on one’s genetic risks, tailoring
medicines and interventions, and becoming more active and engaged
healthcare consumers. Via class discussion and the readings, students will
be able to generate ideas about the possible risks and benefits.
There are many reasons people want to get their genome sequenced.
Genome sequencing analyzes all of your genes, as opposed to a traditional
genetic test that targets a single gene or small cluster of genes. Some
people decide to get their genome sequenced so they can take steps to try
to prevent a disease for which they are at risk (heart disease, diabetes), or
to find out if certain drugs are likely to be effective based on genetic factors.
People who learn that they will likely develop a disease with no cure might
opt to buy long-term disability insurance, write a will, name a healthcare
proxy, or take other steps to plan for the future. Some may decide to
become activists, educators and start or participate in research studies.
Others might decide to not have biological children to avoid passing on a
genetic disorder, or use advanced reproductive technology to screen IVFcreated embryos in an effort to choose an embryo free of the genetic disease
they are seeking to avoid.
To give students a sense of the “big picture” in genetics, we recommend
Mary Carmichael’s excellent series she wrote for Newsweek in 2010. If you
are going to read only once piece from the six- part series, read the first
one!
“DNA Dilemma: Should I take a genetic test?” Mary Carmichael, Newsweek.
Do now: (7 min)
Students should answer questions individually or discuss with a partner.
www.pgEd.org 2
1.What are the potential benefits to knowing more about you genetic
predisposition (chance of developing) to disease?
2.What are the possible negatives to knowing?
Discuss student answers after they have finished.
Activity:
1. Interactive Slideshow (15 - 20 min)
We have created a PowerPoint slideshow (located under the lesson plan link
here: http://www.pged.org/lesson-plans/) that explores what types of
information people can learn from genome sequencing, the hopes and limits
of sequencing, and how this information may impact us. The notes that
accompany the slides are included in this lesson.
One important point to make to your students is that genetics can make
predictions about your health risks and other traits, but does not tell the
future. The intricate relationship between genetics and environment is key to
our understanding of behavior and health.
You may want students to take notes to help evaluate their understanding,
particularly if you will be using additional lesson plans and students will later
participate in a debate and/or writing activity. One excellent method for
note-taking is Two-Column Note Taking. A sample graphic organizer is at the
end of the lesson plan.
Notes for slideshow:
Slide 3: New DNA sequencing technologies are quickly making it faster and
less expensive to learn about one’s DNA. The cost of finding out your entire
DNA sequence is anticipated to decrease so quickly that, within ten years,
your physician might request your genome be sequenced as part of routine
blood-work, possibly covered by health insurance. Genetic tests are directly
available to consumers – called direct-to-consumer (DTC) testing.
Companies sell kits on-line consisting of a tube for saliva, and directs
customers to spit into the tube and mail the tube back to the company. The
companies then analyze the DNA (which look at pieces of the genome rather
than the entire genome) in the saliva and send a report of the traits that
might be predicted by your DNA.
Our DNA can reveal important information about our health, behavior and
other traits. However, it is important to remember that we are much more
than our genetic information. Learning about our DNA is highly personal, but
also raises many questions about how we as a society are going to handle
the accessibility of genetic information. For example, if you learn about your
risk for Alzheimer‘s disease, this may raise concerns for your mother, who
might not want to know anything about her Alzheimer’s status. Might easy
www.pgEd.org 3
access to genetic predispositions affect dating relationships? Should
insurance companies be able to know information about your DNA? These
are just a few of the issues that your class will discuss.
Slide 4: The generation that is now in middle and high school likely will be
more directly impacted by the increase in genetic information than any
previous generation. Doctors and scientists think of the “$1000 genome” as
an important milestone, because at that cost (or less) it will be a similar cost
to other routine medical tests like MRIs, and may become a common tool to
help diagnose disease and indicate treatment options.
Note: Slides 5-9 offer a very brief overview of some of the ways that genetic
testing or genome sequencing are being used and impacting real people.
Slide 5: Genome sequencing has already had real-world impacts on
patients, including twins Alexis and Noah Beery. The twins exhibited a
number of developmental delays and were diagnosed with cerebral palsy at
the age of two. However, their mother, Retta, never felt that this diagnosis
was correct, particularly since their symptoms worsened over the course of
the day. Through her own research and advocacy, the twins were diagnosed
with a genetic disorder called dopa-responsive dystonia and began taking a
medication that seemed to successfully treat the condition. However, some
symptoms persisted and escalated, particularly for Alexa, including serious
breathing problems. The Beerys had the twins' genomes sequenced, leading
to the identification of a mutation in the SPR gene which, when disrupted,
causes deficiencies in two neurotransmitters, called dopamine and serotonin.
Upon treatment to address both genetic disorders, the twins’ symptoms
quickly improved, permitting them to resume full, active lives.
Slide 6: In May 2013 actress Angelina Jolie revealed that she had
undergone a double mastectomy because she carried a mutation in the
BRCA1 gene that greatly increased her risk of breast and ovarian cancer.
According to Jolie’s op-ed in the New York Times, her “chances of developing
breast cancer have dropped from 87 percent to under 5 percent.” This
example is a great way to engage students with a real-life example of a
well-known person making a major medical decision based on genetic
information.
My Medical Choice in The New York Times
Slide 7: Some people use a technique called pre-implantation genetic
diagnosis in conjunction with in-vitro fertilization (IVF) to avoid deadly
childhood diseases. IVF is a process used to help people with fertility issues
conceive. Usually, women are given hormone injections to produce multiple
eggs, which are then extracted and combined in a petri dish with sperm.
One or (usually) more embryos are then implanted in the woman’s uterus.
www.pgEd.org 4
Pre-implantation genetic diagnosis (PGD) is used during IVF when parents
have a high likelihood of passing on a serious or deadly genetic condition to
a child. A single cell is removed from an 8-cell embryo and tested for a
specific condition. Embryos that are free of the condition (if any) are then
considered for implantation into the woman’s uterus. This image is a cell
being removed from an 8 cell, 3-day-old embryo. Studies have shown that
the removal of one cell at this stage does not seem to impact the
development of the embryo. This technique raises ethical issues for many
people; some believe that people should not interfere with the process of
conception. Others raise concerns that parents can use this technique to
screen for adult-onset disease or non-medical issues (i.e. eye color, sex,
having severely crossed eyes) will lead to “designer babies” and that parents
and doctors should not have the ability to choose a child’s traits.
Slide 8: This picture shows a child getting the inside of his cheek swabbed
for DNA that will be sent to a company that will test for a specific version of
the ACTN3 gene, to see if he might excel at certain sports (endurance vs.
sprinting, like soccer vs. hockey). There is a lot of controversy about how
useful this test is, and if it is right for parents to test small children for this
rather than, for example, encourage your child to try different sports and
seeing what she or he likes best.
Slide 9: DNA tests can be used to help people learn about their ancestry,
particularly when that history is unknown for various reasons. Because of
this history of slavery, many people of African ancestry do not know what
area of Africa their ancestors were from. Other people may not know any
ancestry information (or medical family history) if they are adopted. DNA
testing can fill in these gaps and allow some people to feel more connected
to a past they were previously unaware of.
Slides 10 and 11: Technological advances can fuel societal change,
whether it be in computers or DNA sequencers. In 1945, the US military
completed the ENIAC, the first electronic general-purpose computer. The
decimal-based machine used 18,000 vacuum tubes, weighed 30 tons and
took up 1,800 square feet. Today, all 1,800 square feet of that machinery
fits on the head of a pin.
(http://www.pcmag.com/encyclopedia/term/42630/eniac) An iPad is clearly
smaller, lighter and faster than the ENIAC, with countless more features.
The Oxford Nanopore MinIon is a DNA sequencer that fits in one’s hand, and
is a USB drive that can be plugged into a computer and read the DNA
sample that has been previously loaded into it. According to its makers, it
will be able to sequence up to 150 million base pairs in six hours and will
cost under $1000.
www.pgEd.org 5
Slide 12: Because of major technological advances, the cost of sequencing
a human genome has fallen rapidly. Within the next 3-5 years, the cost of
sequencing a human genome is estimated to be under $1,000 and will take
only hours or days to complete. Perhaps reading human genomes will be as
routine as blood tests and easy enough to be carried out in your doctor’s
office. Graph is available at http://www.genome.gov/sequencingcosts/.
Slide 13: An example of a director-to-consumer genetic testing kit available
on the Internet. 23andMe sells kits that consumers can order online, spit
into a tube (a large enough amount that a person wouldn’t be able to obtain
someone else’s saliva without their knowledge), and then send back for
analysis. Customers can obtain results about their risk for serious diseases
such as type-2 diabetes, Parkinson’s Disease or age-related eye disease;
whether they may pass on genetic variants to a child; and interesting but
not particularly consequential information, such as whether or not they have
a genetic predisposition to think that cilantro tastes like soap. Debate
continues about whether tests such as these should be available to people
without having to talk to a doctor or genetic counselor to ensure that people
understand their risks and the results of the test. Others argue these are
paternalistic concerns that consumers can assess for themselves.
Slide 14: 23andMe tests for a very broad array of genetic variants, which
assess a person’s risk for serious diseases or conditions, including macular
degeneration (which can lead to blindness), Parkinson’s Disease, diabetes,
and many types of cancer. This may cause some people to opt for earlier or
more frequent medical screenings or adopt lifestyle changes to avoid a
specific disease.
Slide 15: The potential benefit of genetics in medicine is enormous.
Nevertheless, there are challenges as well. Here we explore some of the
challenges (this is for teacher information, which can be condensed for
students):
1. Clinical utility: First, scientists are still learning how to interpret
genomes – research is progressing quickly, but much remains to be learned.
This is evident from the differences in the predictions that different DTC
companies make with respect to disease risk. It is also evident in the
predictions that change and evolve over time as research furthers our
understanding. Individuals should therefore take care when they consider
disease risk predictions and, furthermore, have the interpretation of their
genome reassessed periodically. Second, often there is no clear medical
action that can be taken based on genomic information. Already, there are
a few remarkable stories, such as that of the Beery twins, where genome
sequencing has brought both a diagnosis and an effective treatment. In
other cases, genome sequencing may bring a diagnosis without a cure or no
www.pgEd.org 6
diagnosis at all. The hope is that advancements in science and medicine will
continue to improve the clinical utility of personal genomes.
2. Familial impact: Do you want to know if you have increased risk for
a disease such as Alzheimer’s, which has no effective treatment or cure? For
some individuals, the answer is “yes,” as they feel that knowledge is power
and knowing whether they are predisposed to a disease will affect how they
choose to live and plan for their future. Others would prefer not to know
because, once you learn about your genetic risk, it is impossible to go back
and “unknow” this information. Therefore, it is important to consider this
issue before learning about your genome, to decide if there are limits to
what you want to learn. It is also important to consider how our genetic
information might affect our family members. For example, imagine a
woman whose mother’s family has a history of breast cancer. If she learns
that she carries a BRCA1 variant that puts her at increased risk, there is a
good chance that her mother is at increased risk as well. Should she ask her
mother’s permission before getting tested? Should she ask her husband’s
opinion, because knowing whether she carries the BRCA1 variant has
implications for their long-term planning and for their children?
3. The influence of factors outside of our genome: Personal
experiences and environmental factors also affect our health and behavior.
For example, it is known that there is a significant genetic component to
addiction. We should not assume that these individuals are all addicts, nor
should these individuals feel trapped by their genetics. Education and
discussion are important to avoid this over-simplified thinking.
4. Discrimination: Some people believe that genetic information, if
made public, could be used to harm them in some way. The U.S. Congress
passed the Genetic Information Non-Discrimination Act (GINA) in 2008,
which states that people cannot be discriminated against with regard to
employment or health insurance based on genetic information. However, this
law does not protect individuals against discrimination with respect to other
insurance coverage, including disability, long-term care and life insurance,
which use family history to evaluate applicants.
5. Equality of accessibility: Finally, how can we ensure that everyone
who wants it can access his or her genetic information? There is general
agreement that everyone, regardless of socioeconomic status, should know
about the possible benefits and risks of genome sequencing, but it will take
time to implement a comprehensive educational program. Can we ensure
equal access? Will insurance companies pay for genome sequencing? Will
people enroll in research studies? Will prices continue to fall? Ensuring the
accessibility of genome sequencing to all who are interested is a growing
issue as personal genetics plays an increasingly important role in healthcare.
2. Four Corners Activity (15 - 25 min, depending on depth of discussion)
www.pgEd.org 7
Students will hear several statements, and move to labeled corners of the
room based on whether they agree or disagree with each statement, and
then discuss their opinions.
Step one: Preparation
Label the four corners of the room before students enter with signs reading:
strongly agree, agree, disagree, and strongly disagree. You could also do a
straight line across the room with students placing themselves on the
continuum between strongly agree and strongly disagree; the best set up
likely depends on your classroom.
Tell students: The new advances in genetics and genome sequencing offer
great hope for medicine and health; at the same time, there are risks and
questions for consumers. The statements below offer students a chance to
express their opinion and discuss some of the issues with their classmates.
Step two: Introduce Statements:
Read each statement and have students move to the corner of the room
depending on whether they strongly agree, agree, disagree, or strongly
disagree (statements are in the slideshow). After they move to the corner,
have them discuss in their groups why they agree/disagree. Once students
are in their places, ask for volunteers to explain their position; they should
cite information from the article that supports their position. Encourage
students to switch corners if someone presents an idea that causes them to
change their opinion. After a representative from each corner has defended
his or her position, you can allow students to question each other’s evidence
and ideas. Before beginning the discussion, remind students about norms for
having a respectful, open discussion of ideas.
Note: If you have longer class periods and/or will use this as a pre-writing
activity for either an essay or debate, you can distribute statements and give
students the opportunity to respond to them in writing before discussing.
Statements:
● People should get counseling from a doctor or genetic counselor when
they get genetic testing because they won’t be able to handle the
information otherwise.
● People should have the right to learn whatever they want to about
their DNA because it is their own body.
www.pgEd.org 8
Note for teacher: The first two statements show conflicting viewpoints
about genetic testing, particularly in regard to direct-to-consumer
(DTC) testing. New York State banned the sale of DTC tests, and the
American Medical Association recommended that the Food and Drug
Administration ban the tests, because they think people need the
results interpreted by a qualified doctor. The other side typically finds
this argument paternalistic and believes that individuals absolutely
have the right to learn about their DNA. You can read more at
http://www.ama-assn.org/ama1/pub/upload/mm/399/consumergenetic-testing-letter.pdf and
http://www.wired.com/wiredscience/2011/02/american-medicalassociation-you-cant-look-at-your-genome-without-our-supervision/.
● I would only want to find out my likelihood of developing a disease if
there are ways to prevent or treat it.
Note for teacher: Even in the absence of medical interventions, some
people want this information to guide lifestyle changes, financial
planning, or may be spurred into advocacy or research studies. Other
people feel that concerns about discrimination and emotional impact
override the benefits of having this information. However, research
has shown that learning about heightened genetic risk to disease does
not do long-term harm: Learning of Risk of Alzheimer’s Seems to Do
No Harm
● Parents undergoing in-vitro fertilization should have the option to
screen embryos for serious disease.
Note: Some parents who know they carry a genetic variant that would
likely cause serious disease or death in a child opt to get special
testing, called pre-implantation genetic diagnosis (PGD), to test
embryos for that disease. They then would choose to implant only
embryos that are free from the disease. Some people see this as a
great advance that can eliminate serious and deadly diseases, while
others believe that any testing of embryos is unethical because
conception should not be interfered with.
● Parents should be able to choose a child’s traits for non-medical issues
such as eye color, sex, and athletic ability.
Note: Many clinics that offer PGD for medical reasons also allow
parents to select the sex of the child for social reasons. It is possible to
test for cosmetic traits such as eye or hair color, though most clinics
do not provide that. With the ability of geneticists to sequence fetal
www.pgEd.org 9
genomes, however, many people think it is possible that people will be
able to test for athletic ability, perfect pitch (the ability to identify or
recreate a musical note without a reference pitch), height, etc.
● Some people are better suited for certain jobs based on their DNA.
The Genetic Information Non-Discrimination Act (GINA) was passed by
Congress in 2008 prohibits employers from basing hiring or firing
decisions based on genetic information. This statement gets students
thinking about the practicality of this idea and raises some interesting
questions: Can everyone be a professional athlete? Truck driver?
Professor? Soldier? Although most people agree people shouldn’t be
discriminated against based on genetics, this question helps students
think about the role genetics may play what career choices people
make.
● Parents should be able to find out whatever they would like about their
children’s DNA before they turn 18.
Note: This statement is intentionally broad to encourage students to
consider how much information could be available to parents through
genome sequencing. There is a big debate about how much parents
should find out about their offspring’s DNA, either prenatally or after
birth. While genome sequencing can help to predict, diagnose or treat
certain diseases, it may uncover genetic risks for disease later in life or
other information that might affect how a child is raised. Many people
are concerned about the availability of this information before the child
is able to give informed consent. Should testing be done that only
looks for a specific subset of genetic risks? Or, if genome sequencing is
performed, should only specific types of information be provided to
parents? Is it ethical for parents to test for athletic ability before the
child can understand what this means, and what kind of pressures
might that create on the child?
The American College of Medical Genetics and Genomics released new
guidelines in March 2013 regarding the reporting of incidental, or
secondary, findings when performing genome sequencing: “The
guidelines recommend that doctors tell patients (and the families of
children or impaired adult patients) if their genome analysis reveals
the presence of one of several types of genomic variants in 50 or so
genes that have been strongly associated with about two dozen
diseases. A key factor in selecting these genes and diseases was that
the disorder is serious and that there are practical things that the
patient and doctor can do to mitigate the associated risks. If genome
www.pgEd.org 10
sequencing reveals any of these, the standard of care will now be for
the laboratory to return the information to the doctor and for the
doctor to then tell the patient, prompting appropriate follow-up care to
keep the patient healthy.” (http://www.genome.gov/27553717)
● I would want to know if someone I was dating had a genetic condition
that would likely cause a serious disease.
Note: The goal of this statement is to encourage students to think
about how the availability of genetic information will impact our social
perceptions and how private or accessible they want their information
to be.
We’ve included the statements on the PowerPoint. This helps students
understand the statement and prevents the teacher from having to read it
several times.
Step three: Debrief
You can debrief the lesson as a whole class or individually. Discuss or have
students write about how the activity changed or reinforced their original
ideas. To clarify ideas shared during the discussion, chart the main
arguments on the board as a whole-class activity.
Homework: Have students answer questions below.
1. Explain some of the reasons people choose to get genetic analysis. What
are some of the benefits of doing so? What are some of the possible
disadvantages of doing so? Explain.
2. Do you think people should be able to get genetic testing directly from
companies, instead of going through their doctors? Why or why not?
3. Would you consider getting genetic testing to learn more about your
health? Why or why not? If yes, under what circumstances might you
consider it?
Teacher resources for further exploration:
1. Amy Harmon’s “DNA Age” series in the New York Times for news, analysis
and video clips. While some of the science has changed, the issues Harmon
examines are still timely.
http://topics.nytimes.com/topics/news/national/series/dnaage/index.html
www.pgEd.org 11
2. The Hastings Center is an independent, nonpartisan, and nonprofit
bioethics research institute with many resources and articles about ethics
and genetic and genomic testing:
http://www.thehastingscenter.org/Issues/Default.aspx?v=246&gclid=CMuUl
OD_orgCFcad4AoddHEA2w
www.pgEd.org 12
Name__________________________________
Key Ideas: What ideas are most
important to remember? What new terms
or concepts have been introduced?
Date__________
Response: What questions does this
information raise for you? What other
ideas, events or texts does this
information remind you of? Why do you
think this information is important? How
does this information connect to your own
lives? What do you think of these ideas?
www.pgEd.org 13