Informed Consent

for Genetic Testing

What Michigan Patients Need to

Know Before Getting a Genetic Test
 Table of contents
1. What is a genetic test?................................................................ 4

2. What is the purpose of genetic testing?................................... 4

3. How effective is genetic testing?............................................... 5

4. What are the limitations of genetic testing?............................ 5

Performing the right test......................................................... 5
Laboratory processing............................................................. 5
Interpreting what a test result means................................... 6

5. What are the benefits of genetic testing?................................ 7

6. What are the risks of genetic testing?...................................... 7

Informed Consent Form............................................................... 10

7. What do the results of genetic testing mean?........................13

Negative (no changes found in the gene(s)
tested or “normal”)..................................................................13
Positive (pathogenic gene change detected).......................14
Variant of uncertain significance (VUS)................................14
Incidental or secondary findings...........................................15

8. What will happen to my sample after the genetic

test is completed?...........................................................................16

9. Who has access to my sample and information

from the test?..................................................................................16

10. What is the cost of genetic testing?.......................................17

11. Where can I get more information about genetic

testing and related services in Michigan?...................................17

Glossary of Genetic Terms............................................................18

2
Genetic testing has become important in many areas of health
care. Since 2000, the state of Michigan has had a law that
requires health care professionals to fully inform people who
are offered certain genetic tests about the benefits, risks, and
limits before testing is done. This booklet was created by the
Michigan Department of Health and Human Services to help
answer questions about genetic testing and to help meet the
requirements of the law. The goal of this booklet is to make sure
you have enough information about genetic testing to decide
whether you want to have a test.

The booklet has a glossary* (list of definitions) to help you

understand genetics-related terms. The booklet also includes
a model consent form that contains the minimum information
that a person having a genetic test must be given before testing,
as required by Michigan law. Your health care provider is
responsible for giving you this information and having you give
signed consent for genetic testing before you have a test. Your
provider may use the form included in this booklet (“Consent to
Obtain a Specimen for Genetic Testing”) or a similar one.

Reading this booklet may help you think of questions to ask your
health care provider about genetic tests you are offered.

Genetic testing is your choice (voluntary). Only you can decide if

you want to be tested. You may want more information before
deciding what to do. People often have questions about the
condition(s) for which testing is being considered. They may also
have questions about other issues such as whether insurance
covers testing. Your health care provider will explain the purpose
of the test and try to answer your questions.

If after reading this booklet you still have questions, be sure to

ask your health care provider (doctor, nurse, nurse practitioner,
physician assistant, genetic counselor) before you agree to have
the genetic test being offered to you.

*Glossary terms are highlighted in a bold, blue font

throughout the booklet.
3
 1. What is a genetic test?
A genetic test is any laboratory test used to look at a person’s
genetic makeup. Everyone is born with a unique genetic makeup.
Sometimes variants within a person’s genes may cause or
contribute to a medical condition, like a birth defect or an
increased chance of developing cancer.

Depending on the specific genetic test ordered, the test may

detect one genetic condition or many genetic conditions. Your
health care provider should talk to you about the condition(s)
for which you are being offered testing as part of the genetic
counseling that occurs before genetic testing.

Genetic tests are usually performed using blood, saliva (spit),

cheek cell or skin cell samples. When testing a pregnancy,
chorionic villus, amniotic fluid, or a sample of the mother’s
blood (which includes a small amount of the baby’s genetic
information) can be used. Genetic tests can also be performed on
embryos (fertilized eggs). These tests may look at a person’s DNA,
RNA, proteins, or other substances in cells that can indicate a
genetic condition.

2. What is the purpose of genetic testing?

There are different reasons for doing genetic tests. A genetic test
can be done to:

 Confirm a diagnosis that is already suspected based on

personal and family medical history and/or a medical exam.
(Diagnostic Test)

 Determine the chance a healthy person is at risk to develop

a disease or condition in the future. (Predictive Test)

 Determine the chance a healthy person will develop a

disease or condition in the future. (Presymptomatic Test)

4 INFORMED CONSENT FOR GENETIC TESTING

  Determine carrier status. A carrier has a change in a
specific gene or genes that increases their chance of having
a child with a genetic disease or birth defect. (Carrier Test)

3. How effective is genetic testing?

The effectiveness of a genetic test depends on many factors
including the purpose of the test (why it is being ordered) but also
its potential benefits, risks, and limitations, as described below.

4. What are the limitations of genetic testing?

There is no one test that detects all genetic conditions. Genetic
testing is very accurate, but it has some limits, including the
following:

Performing the right test

Your health care provider must have accurate information about
your personal medical history and family history to figure out
which genetic test(s) to order and to correctly interpret what the
results mean. If you are being tested for a condition that runs in
your family, but the test used is not the correct test, your result
will not accurately determine your risk for the condition.

Also, tests that depend on having samples from family members

may be interpreted incorrectly if there is non-paternity (named
father is not the biological father of a child) or if the true
bloodlines in a family are not known.

Laboratory processing
All certified (clinical) laboratories have strict rules for handling
samples from the time the sample is received to the reporting
of the results. In rare cases, problems may occur in handling the
sample, which might lead to incorrect results. Research labs and
direct-to-consumer (DTC) testing labs may not have the same
strict rules that clinical labs have, which may increase the chance
for sample mix-ups and other errors.

MICHIGAN DEPARTMENT OF HEALTH AND HUMAN SERVICES 5

 Interpreting what a test result means
Below is a list of possible limits to understanding what a genetic
test result could mean for your health and that of your family:

 A genetic test may identify a gene change for which the

impact on a person’s health is currently unknown (it may
or may not cause the condition). This is called a variant of
uncertain significance (VUS). It may take months or years
to figure out what having a VUS means for one’s health.

 A genetic test may find a gene change that confirms a

suspected diagnosis (diagnostic testing), but the result
may not give information about how severe the condition
will be.

 A genetic test may identify a gene change that indicates an

increased chance for developing a condition in the future
(predictive testing), but it cannot predict whether a person
will actually develop the condition, or when symptoms will
appear.

 A genetic test may find a gene change that shows a

healthy person will eventually develop a condition
(presymptomatic testing), but it cannot tell exactly when
the condition will develop.

 A genetic test may show a normal result (no gene change),

but this may not rule out a person’s chance of having a
genetic condition. The test may not find
all the gene changes that can cause the
condition or there may be other genes
that can cause the condition that were
not tested or are still unknown.

It is important that you discuss the

limits of genetic testing with your
health care provider so that you are
fully informed about what the results
might mean.

6 INFORMED CONSENT FOR GENETIC TESTING

5. What are the benefits of genetic testing?
There are several possible benefits of genetic testing. For
example:

 Knowing about an increased chance of developing

a condition might lead a person to choose medical
treatments that reduce their risk or help identify the
condition at an early, more treatable stage.

 Having knowledge can empower a person and family

members to make important life planning decisions, even if
a cure is not available at that time.

 Having a specific diagnosis could qualify a person to enroll

in research studies, which may lead to new treatments.

 Knowing about a certain gene might provide important

health information for other members of a person’s family.

 Confirming a genetic diagnosis can give insurance

companies the information they need to decide whether to
cover screenings or treatments for the condition.

 When parents find out that they both have a change in the
same gene (carrier testing), this information can help with
family planning.

6. What are the risks of

genetic testing?
There are also several possible risks of
genetic testing. These include:

 Physical risks. The physical

risk of testing is usually small,
often not more than having a
blood sample drawn. If your
test involves any other type of
sample, the health care provider

MICHIGAN DEPARTMENT OF HEALTH AND HUMAN SERVICES 7

 collecting the sample, or a professional they work with,
should explain the risks before you decide to have the test.

 Personal psychological and social risks. These risks

are related to how the results might change a person’s
life or views on life. The decision to have genetic testing
can be stressful. A person may have emotional reactions
to learning that they do or do not carry a gene change
for a certain condition. For these reasons, meeting with a
therapist may be suggested before some genetic tests are
performed.

 Familial psychological and social risks. These risks are

related to how the genetic test results might affect family
relationships. A person who decides to have genetic testing
needs to think about whether to tell other family members.
Sometimes the test result for one family member can
disclose information about the genetic makeup of other
relatives, even if they have not been tested. Also, a genetic
test may show unexpected relationships, such as non-
paternity (a different biological father).

 Economic risks. Genetic testing may affect a person’s

ability to obtain health, life, disability or long-term care
insurance. It could also affect the ability to obtain or keep
a job. There are both state and federal (U.S.) laws to help
protect people from genetic discrimination. Many of these
laws prevent the use of genetic information by health
insurers and employers but there are some limits. Life,
disability, and long-term care insurance are usually not
covered by these laws.

8 INFORMED CONSENT FOR GENETIC TESTING

 CONSENT TO OBTAIN A SPECIMEN FOR GENETIC TESTING
PATIENT LAST NAME: FIRST NAME:

(Please Print)

DATE OF BIRTH: HOSPITAL/ ID NUMBER:

ORDERED BY: GENETIC TESTING REQUESTED FOR:

LABORATORY NAME, CITY AND STATE:

(name of condition)

The intended purpose is (check all that apply):

SAMPLE TYPE Carrier status
Amniotic fluid Diagnostic
Blood Predictive
Saliva or cheek swab Prenatal
Chorionic villus sample (CVS) Presymptomatic
Skin Screening
Tissue block Other
Other

1. I have been informed about the nature and the purpose of this genetic test.
2. I have received an explanation of the effectiveness and limitations of this genetic test.
3. I have discussed the benefits and risks of this genetic test with my physician and/or other health care professional. I
understand some genetic tests can involve possible medical, psychological or insurance issues for my family and me.

4. I understand the meaning of possible test results and have been informed how I will receive the result.
5. I have been informed that genetic testing can sometimes reveal incidental or secondary findings- results that are not
 4. I understand the meaning of possible test results and have been informed how I will receive the result.
5. I have been informed that genetic testing can sometimes reveal incidental or secondary findings- results that are not
related to the purpose of testing. I have discussed with my health care professional if and/or how such results will be
shared with me. I understand that it is up to me to decide whether I want secondary results reported back to me and
what secondary results I want reported.
6. I have been informed who may have access to my biological sample, and that any leftover sample may be retained by
the laboratory.
7. I have been informed who may have access to my genetic test result, which is part of my confidential medical record.
8. My questions have been answered to my satisfaction.
9. I understand that this consent form is intended to be used together with the patient information booklet that contains
important information explaining the above eight items. I have read both this consent form and the booklet. I received
a copy of the form and booklet for my records.
I consent to have a sample taken for genetic testing on the above-named patient for the condition(s) listed above.

Signature of Patient or Authorized Designee Date

Circle one: Self Parent(s) Legal Guardian Durable Power of Attorney for Health Care
Print Name of Physician or Authorized Delegee explaining the above information:

Signature of Authorized Person: Date:

This consent form was developed by the Michigan Depa rtment of Health and Human Services in compliance with PA 29 of 2000 and must
be distributed with "Informed Consent for Genetic Testing" patient booklet. Neither may be altered nor deleted to change the mea ning of
specific statements above or the intent of the informed consent process. Revised 9/21
Revised 09/21
7. What do the
results of genetic
testing mean?
Genetic tests can be
classified as negative
or positive.

Negative (no
changes found in
the gene(s) tested or
“normal”)
A negative result means a person does not have a change in the
gene(s) tested. Usually a negative test result is good news, but
there are some limits. For instance, some genetic conditions are
caused by more than one gene and a person may not have been
tested for all of these genes. Also, genetic conditions may be
caused by different types of changes within the same gene, but
the laboratory may not test for all of these types of changes.

For these reasons, it can be hard to interpret the meaning of a

negative genetic test result. This is especially true when genetic
testing is done in a healthy person before an affected family
member has been tested. In such cases, a negative result in
the healthy family member is called an uninformative negative
result. The result does not rule out the possibility that the
person tested is still at risk. That is why it is important, when
possible, to first test a family member who is suspected to have
the genetic condition before testing unaffected relatives. If you
are considering testing, and the ideal person in the family is not
available to test, talk to your health provider about the limits of
interpreting your results.

The technology to identify new genes associated with a genetic

condition or to detect certain types of genetic changes improves
every year. If you have testing and the result is negative, you may
want to ask whether a better test may become available and
then check back with your health care provider periodically in the
future.
MICHIGAN DEPARTMENT OF HEALTH AND HUMAN SERVICES 13
 Positive (pathogenic gene change detected)

 A positive test result on a diagnostic, presymptomatic,

or predictive test means that a person has a gene change
that is known to cause a specific condition, or can put a
person at increased risk of developing a genetic condition.
These types of gene changes are called pathogenic or
likely-pathogenic variants (P/LP variants). They may also
be called mutations.

 A positive test result also means there is an increased

chance that the person’s relatives, including current or
future children, could have the same genetic condition.
How small or big that chance is depends on how the
condition is inherited in the family. If you have testing, it is
important to talk to your health care provider about what
your test results could mean for your relatives and to think
about how you would notify your relatives about their risks.

 A positive result on a carrier test means that a person has

an increased chance of having a child with a specific genetic
condition. In most cases, being a carrier does not increase
a person’s chance of having any health concerns but there
are some exceptions.

If you have a positive carrier test result, it is likely that you

inherited the gene change from your mother or father. As such,
your relatives will also have an increased chance of being a carrier
for this condition.

Variant of uncertain significance (VUS)

Sometimes it is unclear if a gene change found through genetic
testing is harmful (causes or increases the chance of developing a
specific condition) or benign (harmless). In such cases, the genetic
change is called a “variant of uncertain significance” (VUS).
Laboratories may learn more about a VUS in the future and this
may allow the lab to at some point classify the VUS as a benign
or likely benign variant (harmless) or as a pathogenic or likely

14 INFORMED CONSENT FOR GENETIC TESTING

pathogenic variant (associated with disease or risk of disease). For
this reason, if you have testing and it shows a VUS, it is important
to contact the health care provider who ordered your genetic
testing once or twice a year to see if more information is available.

Incidental or secondary findings

Sometimes genetic testing reveals a finding that is unrelated
to the reason for doing the test. These are called incidental or
secondary findings (ISFs). Examples include:

 A risk for a genetic condition that is unrelated to the

original reason for testing. Some tests look for genetic
changes across a person’s genetic makeup, for example,
whole exome or whole genome tests, instead of just looking
at genes known to be related to the person’s symptoms
and family history. When these types of tests are done,
occasionally a pathogenic/likely pathogenic variant (P/LP
variant) will be found in an unrelated gene. In addition,
the American College of Medical Genetics and Genomics
recommends that when such tests are done, laboratories
look for P/LP variants in a specific set of actionable genes.
Actionable genes cause genetic conditions, but early
identification and treatment can improve a person’s health
outcomes.

 Non-paternity. Finding out the person designated as the

father is not the biological father of the person having
testing.

 Consanguinity. Finding out the biological parents are

closely-related by blood.

Genetic testing laboratories have different ways of reporting ISFs

to patients and providers. How they are reported depends on a
number of factors including laboratory policies, whether knowing
the result will change a person’s medical care, and a person’s
preferences. It is important for your health care provider to
discuss how you want any potential ISFs handled during your pre-
test genetic counseling.

MICHIGAN DEPARTMENT OF HEALTH AND HUMAN SERVICES 15

 Overall, before you decide to have genetic testing, make sure you
understand what a negative, positive, or VUS result will mean
by discussing your situation with your physician, nurse, nurse
practitioner, physician assistant or genetic counselor. Also, speak
to your health care professional about the possibility of ISFs
results and how they will be handled.

8. What will happen to my sample after the genetic

test is completed?
You have the right to know what will happen to any remaining
sample. As part of informed consent, your health care provider
should discuss this with you before genetic testing. The consent
form may allow you to choose whether you are willing to have
your sample used for other purposes, such as research.

9. Who has access to my sample and information

from the test?
Genetic tests are handled in a confidential manner, like other
personal health information. The person collecting your sample,
and people in the laboratory performing the test, will handle your
sample. The health care provider who ordered the test will receive
the results and should let you know how you will be informed
about these results. Your medical record and test results are
confidential. Your written permission is required before your
medical record is released to anyone else.

Genetic information is familial information. Sometimes your

test results can provide your family members with information
about their genetic risks that could be life-saving. Therefore, it is
important for you to thoughtfully consider sharing your results
with your family, especially if the condition you are being tested
for is preventable. You can discuss with your health care provider
ways that you can share your information with your family.

16 INFORMED CONSENT FOR GENETIC TESTING

10. What is the cost of genetic testing?
The cost depends on the test performed. Usually the cost can
range from a few hundred to several thousand dollars. Before
having testing, ask about the cost of the test, whether it is covered
by insurance, and if you will be responsible for any or all of the
bill. Whether a test is covered depends on the test, the reason the
test is being ordered, and your insurance plan.

Some genetic tests are regularly covered by most medical

insurance plans. However, some are not. Also consider whether
you have a deductible for your health insurance and whether you
have met the deductible for the year.

11. Where can I get more information about genetic

testing and related services in Michigan?
You can ask your physician, genetic counselor, or other health
care provider. You can also call the Michigan Department of
Health and Human Services toll-free at 866-852-1247 or visit the
MDHHS Public Health Genomics Program website at
[Link]/Genomics.

MICHIGAN DEPARTMENT OF HEALTH AND HUMAN SERVICES 17

Glossary of Genetic Terms
Amniotic fluid: The fluid around an DNA (Deoxyribonucleic Acid): A
unborn fetus; it contains fetal cells particle or material inside a cell
that can be used for genetic testing. that carries the genetic information
needed to operate that cell, make
Benign or likely benign variant: tissues and control organ systems.
A gene change (variant) that is not
thought to cause or increase a Fetus: An unborn baby from about
person’s risk of developing a disease eight weeks after conception until
or condition. birth.

Birth defect: A physical difference Gene: A subunit of DNA that

in a baby that is present at birth. The contains the message for a cell
physical difference may occur alone product, typically some type of
or be associated with developmental protein. Humans have approximately
disabilities. 20,500 genes.

Carrier status: The knowledge Gene change (mutation or

of whether a healthy person has variant): A change in the genetic
a disease-causing gene change structure or DNA. Some gene
(mutation) that could be passed changes increase a person’s risk of
down to their children. Carrier status developing a disease or condition
is often determined by genetic (pathogenic) while others do not
screening. increase risk for health conditions
(benign).
Cell: The basic unit of all living
things, including humans. Genetic: A trait or condition
determined by one or more genes.
Chorionic villus: Cells found in the
placenta during pregnancy. These Genetic counseling: The process of
cells contain the same genetic helping people understand a genetic
information as the developing fetus condition and how to adapt to the
and can be used for genetic testing. implications of having the condition.
The process involves: assessing a
Diagnostic testing: A test to confirm person’s chance of having a genetic
the presence or absence of a specific condition based on family history,
disease or condition. medical history and genetic test
results; providing education about
Direct-to-consumer (DTC) testing:
the condition(s) and what it could
Testing that a person orders on their
mean to the family; helping the
own without a health care provider.
patient and family make informed
Results are returned directly to the
choices about the use of genetic
person.
information based on the family’s
values and beliefs; and helping
the family adapt to living with the
 Glossary of Genetic Terms
condition or risk for the condition. eventually cause a certain disease
or condition.
Germline genetic test: A test that
looks for genetic variants that a Protein: A particle in living things
person inherited from their parents that is needed to support body
and can pass down to their children. structure, function and regulation.
Proteins are made according to the
Incidental or secondary findings DNA sequences in genes.
(ISF’s): A genetic test result that
provides information unrelated Research genetic testing:
to the reason for the test. This Testing that is usually done to
includes finding a change in a gene find out whether certain genes
that is not related to a person’s cause a condition, how the genes
symptoms, learning about non- work, and/or what risks may be
paternity (different biological father), associated with having a variant
or learning about consanguinity in the gene(s). Research genetic
(parents are closely related by test results may not be shared. If
blood). shared, the results should always
be confirmed in a clinical lab.
Informed consent: A person’s
agreement to allow a medical test, RNA (Ribonucleic Acid): A particle
treatment or procedure based on in the body that is similar to DNA. It
a full understanding of all the facts plays an important role in making
necessary to weigh the benefits, proteins and in other cellular
risks, and limitations. activities.

Pathogenic or likely pathogenic Screening: The process of looking

variant (P/LP variant): A gene for a particular gene change or
change (variant) that likely caused disease in individuals who don’t
or increases the risk of a person exhibit any signs or symptoms.
developing a disease or condition. Somatic genetic test: A test that
looks for genetic changes in cancer
Predictive testing: A genetic test cells that caused the cancer to
to determine if a person has one or develop. These genetic changes are
more gene changes that increase the acquired, not inherited, and are
risk of developing a certain disease only present in the cancer cells.
or condition at some time in the
future. Variant of uncertain significance
(VUS): A gene change (variant)
Presymptomatic testing: A genetic for which there is not enough
test performed before the onset information to know whether it will
of any symptoms to determine if a cause or increase a person’s risk of
person has a gene change that will developing a disease or condition.
 [Link]/MDHHS
The Michigan Department of Health and Human Services will not
exclude from participation in, deny benefits of, or discriminate
against any individual or group because of race, sex, religion,
age, national origin, color, height, weight, marital status, gender
identification or expression, sexual orientation, partisan
considerations, or a disability or genetic information that is
unrelated to the person’s eligibility.

To order more copies of the booklet please e-mail

genetics@[Link]

2,000 printed at $0.68 each with a total cost of $1,374.32. This

publication was supported in part by Cooperative Agreement
CDC-RFA-DP19-1905 from the Centers for Disease Control and
Prevention. (Rev. 10/21)