EDUCATION MO DULE
G A T H E R I N G G E N O M I C D A TA F R O M T H E G E N E R A L P O P U L A T I O N
101 Avenue of the Americas, 5th floor, New York, NY 10013
Phone: 646-697-7106 | Fax: 347-875-4100 | Email: Clinical@nygenome.org
PART 1: INFORMED CONSENT
Informed consent:
Informed consent is a process that starts with a person receiving all of the information about the study
including what will happen in the study and all of the benefits and risks. Then the person decides for
him/herself, whether or not to participate. It is important that the person understands the information
before making the decision. It is not a one-time event. The person will have to decide whether or not to
continue to participate and are free to change decisions at any time.
Deciding for yourself:
Informed consent is based on the principle of respect for persons. This means that each person can think and
make decisions for themselves, and that others should respect the decision a person makes. Some people are
not able to think things through and make decisions for themselves. These include children, those with
mental impairments, and others. Before you participate in the study, we will describe to you what will
happen in the study and all of the risks. It is important that you decide for yourself whether or not to
participate.
As a parent, you can make the decision to enroll your child in a research study. Children 7 years of age and
older should be asked if they want to participate. For adults who are not able to consent for themselves,
others such as a named healthcare proxy may make such decisions.
Risks and benefits:
All research should be as beneficial as possible to the participants and cause the least possible harm.
Sometimes, a study cannot provide benefits to the individual participant but may be beneficial to others who
might have the same disease, for example. Ethics committees, called Institutional Review Boards, weight the
risks and benefits of each study before they give approval to conduct a study.
In this study, your health information and samples will be used to create a database that researchers will
use to learn more about human health and ways to improve it in the future. There are risks to participating
but no benefits to the particular participant. This study will benefit human health as a whole.
PART 2: GENETIC CONCEPTS
You don’t have to be an expert in genetics but it is important that you understand some things about it so
that you can make a good decision about whether or not to participate.
A genomic sequence is the unique blueprint inherited from your mother and father—your DNA—that is
critical in determining who you are. That blueprint gives out instructions. Your DNA is one major factor
that determines things about you: what your hair, skin and body type you are, and also ways in which you
may be protected or at risk for different diseases.
Over thousands of generations and across a population of billions of people, small errors in the copying
process and other environmental factors have introduced small changes in our genomes that make all of
us unique and different from one another - even slightly different from our parents.
Not all changes to DNA affect the instructions. In fact, very few changes do, because most changes to DNA
occur outside of the parts used to give instructions. Because of this, most changes to DNA have no effect
on your traits -- but they are inherited nevertheless and provide a unique pattern that can be used to
understand ancestry.
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EDUCATION MO DULE
G A T H E R I N G G E N O M I C D A TA F R O M T H E G E N E R A L P O P U L A T I O N
101 Avenue of the Americas, 5th floor, New York, NY 10013
Phone: 646-697-7106 | Fax: 347-875-4100 | Email: Clinical@nygenome.org
Even though your genes give instructions, the environment you are in affects how your genes may give
instructions. This means that your genes do not control everything about your health or illness all by
themselves. Who we are is a mixture of genetics, environment, and chance. Think of identical twins—they
have identical DNA. While they have identical DNA and have many similarities, there are differences
between them too.
PART 3: ENROLLMENT P ROCEDURES
To enroll in this study you are asked to review the information in this education module. You can also
review the consent form on line. If you do not go through the consenting process with a study team
member, you may be asked to take a test to show that you understand the information. You can repeat the
test if you want to.
If you wish, you may enroll your child who is under 18 years of age. Here are the steps:
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You will have to successfully complete the test in order to enroll your child.
If your child is older than 7 years of age, s/he will have to agree to participate.
You will have to give consent for your child to participate.
If you are a healthcare proxy for someone who cannot make decisions for themselves, you may be able to
enroll that person if you believe that would be his/her wishes. There are a number of requirements to do
this. These are posted online on the NYGC website.
You can read the consent form, ask questions, and make a decision about participation. If you decide to
participate, you must complete the consent form before we can enroll you.
PART 4: OUR STUDY
In this study, we will collect samples from you and the DNA will be sequenced. This will give us
information about your ancestry which we will share with you.
We will collect health information from you in the form of a questionnaire. You may also choose to submit
your health records to us. We will ask you to update your health in formation periodically. All information
will be kept privately and confidentially. You may choose not to participate at any time. If you stop
providing us with updates to your health information, we will consider that you have stopped your
participation.
All of this information from many participants will be pooled together and put into a database. This will
allow researchers to look for differences in DNA between different people. When that information is put
together with health information, these comparisons can help researchers find variations that are
protective or increase risk for getting certain diseases. The comparisons can predict that one may have
high risk of getting disease before one gets sick or may predict that one may be protected fro m getting a
specific disease. The purpose of this study is to understand how genetics influences health and disease in
the general population.
Some diseases are known to be caused by variations in specific genes. The American College of Medical
Genetics and Genomics have identified 56 diseases that are caused by such a variant in a gene. These 56
diseases are special in that there are steps that can be taken to either prevent or treat the disease. The
genomic analysis that will be done with your sample will allow us to identify variants in these genes. In
addition, we may be able to identify that you are a carrier of a hereditary disease. Being a carrier means
that you may not have the disease, but you have the potential to pass on the variant gene fo r the disease to
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EDUCATION MO DULE
G A T H E R I N G G E N O M I C D A TA F R O M T H E G E N E R A L P O P U L A T I O N
101 Avenue of the Americas, 5th floor, New York, NY 10013
Phone: 646-697-7106 | Fax: 347-875-4100 | Email: Clinical@nygenome.org
your offspring. During the consenting process, you may choose to be notified if such a variant is found.
To learn about the specific variant, further testing will be required through your healthcare provider.
Identifying information (such as your name, address, date of birth, etc.) on all of your samples and health
information you send will be replaced with a code. Your DNA sequence and any health information
entered into databases at New York Genome Center will only be labeled with a c ode. We will share your
information in these databases with other researchers at NYGC and at other institutions. Again, we will
share only the information that is coded. We may be required to put this coded information into public
databases (such as the databases at the National Institute of Health). These databases are access controlled, which means that those who want access to the information must have legitimate reason and
receive permission from the keeper of the database.
RISKS OF PARTICIPATION
Unanticipated ancestry discoveries
Even a small amount of genetic data is enough to learn something about a person’s ancestry. If this data is
compared to data from relatives, you may discover that you are not related to people you thought you were
related to. For example, you may discover you have racial heritages that differ from what you had thought.
Loss of privacy
In spite of all of the safety measures that we will use, we cannot guarantee that your identity will never
become known. Although your genetic information is unique to you, you do share some genetic information
with your children, parents, brothers, sisters, and other blood relatives. It may be possible that genetic
information from them could be used to help identify you. Similarly, it may be possible that genetic
information from you could be used to help identify them.
While none of the databases will contain information that is traditionally used to identify you, such as your
name, address, telephone number, or social security number, people may develop ways in the future that
would allow someone to link your genetic or medical information in our databases back to you. For example,
someone could compare information in our databases with information from you (or a blood relative) in
another database and be able to identify you (or your blood relative), and link you or a member of your
family to a risk for a disease. It also is possible that there could be violations to the security of the computer
systems used to store the codes linking your genetic and medical information to you that could be used by
unscrupulous individuals, including insurance or financial services, criminals; alternatively this information
could be used to correctly or incorrectly associate you and/or your relatives with criminal investigations.
Since some genetic variations can help to predict the future health problems of you and your relatives, this
information might be of interest to health providers, life insurance companies, and others. Patterns of genetic
variation also can be used by law enforcement agencies to identify a person or his/her blood relatives.
Therefore, your genetic information potentially could be used in ways that could cause you or your family
distress or anxiety.
Discrimination
While we believe that the risks to you and your family are very low, we are unable to tell you exactly what all
of the risks are. In 2008, the federal government established the Genetic Information Nondiscrimination Act
(GINA), a law that prohibits genetic discrimination in employment and health insurance. It is important to
note that while this law protects you from certain kinds of genetic discrimination, there are exceptions. For
example, GINA does not protect you from genetic discrimination in life, disability, or long-term care
insurance.
Failure to report serious findings
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EDUCATION MO DULE
G A T H E R I N G G E N O M I C D A TA F R O M T H E G E N E R A L P O P U L A T I O N
101 Avenue of the Americas, 5th floor, New York, NY 10013
Phone: 646-697-7106 | Fax: 347-875-4100 | Email: Clinical@nygenome.org
While we will tell you or your doctor in the rare event that we get a result that could seriously affect your
health when there are things that you and your doctor can do for it. However, even if you have such a variant,
we may not be able to detect them with our research procedures. This may be due to the quality of the
sample, the research procedures or our interpretation of our findings. This means that it is possible that there
could be variants relevant to your health that our study did not detect. Participation in this study is only for
research purposes and cannot be considered a clinical result.
Potential financial costs
Findings in your genome may suggest you should have clinical follow-up such as testing in an approved
lab or seeing getting medical advice. This study is not able to provide you wi th these services and will not
cover the costs. In addition, it is possible your health insurance company will not cover these costs. As a
result, you are potentially risking the financial burden of follow -up diagnostic testing -- even if our finding
turns out to be an error in sequencing or interpretation.
There also may be other risks that are not known yet. This study cannot predict all risks that databases
housing your information could pose to you and your relatives.
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