Thank you for your interest in research studies being conducted by the Center for Human Genetics Research. Our research would not be possible without the participation of the individuals who take part in our studies. Below you will find general information about research being done by investigators in the CHGR. You can find information about specific studies by following the links under Open Studies.

Frequently Asked Questions:

What kind of research is the CHGR doing?
Who participates in CHGR research studies?
Do I qualify to participate in a CHGR research study?
What are the benefits and risks of participating in a CHGR research study?
Will it cost me money to participate in a CHGR research study?
Will I be paid to participate in a CHGR research study?
Will I have to come to Vanderbilt to participate in a CHGR research study?
How will my privacy be protected if I participate in a CHGR research study?
What do I need to know before deciding to participate in a CHGR Research Study?
Additional Information

What kind of research is the CHGR doing?
Some people develop a disease and other people do not. People who have the same disease do not always have the same symptoms. People who are given the same treatment for disease do not always have the same response. Genes may play a role. Genes are found in all of the cells that make up the human body. They are inherited from your mother and father. They are like blueprints that tell the body how to develop, grow, and function. Mutations (changes) in genes can cause disease and can affect how a person responds to a disease treatment.

The CHGR is studying a variety of common diseases, including autism, Alzheimer disease and age-related macular degeneration. The goal of our research is to identify genetic variants that affect who gets these diseases and who does not, what symptoms people get and how people respond to treatment. We are also interested in the impact on disease risk of gene-gene and gene-environment interactions. The CHGR is developing and implementing new statistical and computational methods for analyzing information obtained from genetic research studies.

Research being done in the CHGR may lead to a better understanding of the etiology of a variety of common diseases and lead to improvements in risk assessment, prevention and treatment for those diseases. It is possible that as a result of the knowledge gained from these studies that diagnostic tests for the genetic cause(s) of a variety of common diseases will be developed. We hope that in the future the results of our research will benefit individuals with a variety of common diseases.

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Who participates in CHGR research studies?
Adults and children with a disease that the CHGR is studying participate in our research studies. Family members also participate in our research studies. Family members may or may not have the disease that we are studying.

Healthy volunteers also participate in our genetic research studies. Often they participate because they hope it will help people in the future. Researchers compare healthy volunteers (controls) with individuals who have a specific disease (cases) to investigate what differences between the two groups are involved in getting the disease and responding to treatment.

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Do I qualify to participate in a CHGR research study?
Genetic research studies have rules about who can participate. These rules are called the inclusion and exclusion criteria. Using inclusion and exclusion criteria is very important. The criteria help ensure that researchers will be able to answer the questions they plan to study.

Inclusion criteria are the criteria that must be met for a person to participate in a study.  Exclusion criteria are the criteria that will disqualify a person from participating in a study. Inclusion and exclusion criteria may include age, gender, the type and severity of a disease, previous treatment history, and other medical conditions.

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What are the benefits and risks of participating in a CHGR research study?
Some risks are involved in participating in any research study. Most genetic studies pose little or no physical risks. The main physical risk of a genetic study is usually obtaining a DNA sample. DNA may be obtained from a blood sample, a cheek swab, or a mouthwash rinse.

There are minor risks and discomforts associated with a blood draw. These include a brief amount of pain and possibly a small bruise at the needle site. Sometimes, a person feels faint when their blood is drawn. Rarely an infection develops, which can be treated. There are no known risks to a cheek swab or a mouthwash rinse. There may be a very minor discomfort when the cheek is swabbed or rinsed, but this passes immediately when the swab/mouthwash is removed.

Some genetic studies involve having a medical exam or test, such as an MRI, that may have additional physical risks. The specific risks of any medical exam or test will be outlined in the study consent form.

The main potential risk of genetic research is the release of genetic information regarding an individual. There is concern that release of this information could lead to genetic discrimination, including problems with insurance or future employment. The protection measures the CHGR has in place to protect the confidentiality of research information, practically eliminate, and certainly minimize this risk. 

Individuals may or may not receive direct benefit as a result of participating in a genetic research study. Possible benefits include access to specialized medical care (for example, a detailed MRI). Since the results of our genetic research studies are preliminary and our laboratories are not certified to do clinical genetic testing, we do not provide results of our genetic research studies to participants. We provide overall results of our genetic research studies in yearly newsletters which we send for each of our studies.

Even if there will be no direct benefit to participants from their participation in a research study, in the future, the results of the study may benefit individuals, including those individuals who participate in a study.

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Will it cost me money to participate in a CHGR research study?
We do not charge participants to be in our research studies. If a participant incurs costs as a result of participating in our research, for example paying a doctor to have their blood drawn, we will reimburse them for these costs.

Sometimes we ask participants to undergo further medical testing to confirm or exclude a disease diagnosis. Participants may refuse to undergo such tests. Participants who chose to undergo the tests will be referred to their primary care physician to discuss the purposes, risks and benefits of this work-up. Individuals would be responsible for the costs of these tests, and the results would become part of their medical record.

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Will I be paid to participate in a CHGR research study?
At this time, we are unable to compensate study participants for the time it takes to participate in our research.

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Will I have to come to Vanderbilt to participate in a CHGR research study?
Participation in a CHGR research study may not require travel to Vanderbilt. For many of our studies, a clinical coordinator can come to an individual’s home and obtain information over the telephone. Studies that require a specific test, such as an MRI, that can only be done on site, do require that participants come to Vanderbilt.

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How will my privacy be protected if I participate in a CHGR research study?
Protecting the privacy of research participants is extremely important to us.  Many protections and safeguards are built into our study enrollment process:

• As required by law, an institutional review board (IRB) reviews and approves every CHGR study before it can begin. The IRB is made up of doctors, nurses and other medical professionals, scientists, medical ethicists and members of the community.
• All information collected by us for our studies is subject to laws regarding the privacy of medical records, including HIPAA regulations.
• Research information, including consent forms, surveys and questionnaires, is kept in research charts in a locked file room or locked file cabinet. Research information is kept on a password protected database on a PC workstation. Only personnel involved in the enrollment process have access to the research charts, the database and any identifying information on individuals.
• Results of genetic analyses are entered in coded form into a password-protected database. Only personnel involved in data analysis have access to this database.
• DNA samples are coded and stored in a locked cold room or freezer. Only personnel involved in laboratory analysis have access to the samples.

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What do I need to know before deciding to participate in a CHGR Research Study?
You should know the answers to the following questions before you decide to participate in a genetic research study. This information will be included in the study consent form:

•    Who is conducting the study and why?
•    What will happen if I choose to participate?
•    What are the potential benefits of the study?
•    What are the potential risks of the study?
•    How will risks be minimized?
•    How will my privacy be protected?
•    Will results be provided to me?
•    What are the alternatives to participation?
•    What will happen if I decide to withdraw from the study?
•    What study related costs would I be responsible for?
•    What would happen in the event that I am injured as a result of my participation in the study?
•    Who can I contact in the future if I have questions about the study?
•    Will my DNA samples be used for future research? Will I be contacted for consent?
•    What will be done in the event of unanticipated results?

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Additional Information
National Human Genome Research Institute
National Office of Public Health Genomics
Dolan DNA Learning Center

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