Suggested Material and Wording for Use in Genetic Testing Consent Forms

1. Under Purpose and Benefits
   • For a basic research study, where the gene(s) causing the condition is/are unknown:

     We are studying a disease called XYZ. We know that this disease is hereditary, but we don't know what genetic material, or genes, are involved in causing this disease. We are interested in studying your family because this disease appears to run in your family. The purpose of this study is to analyze genetic material from your family in an attempt to identify the genes, or DNA, responsible for XYZ in your family. We expect that our studies will take many years to complete. We may never, in fact, identify the specific genetic material responsible for XYZ. But if we do identify the specific genes, we may be able to develop better diagnostic tools and treatment for this disease in the future. While you will most likely not benefit personally from this study, future generations may benefit from the knowledge that we gain.

   • For a study where a specific gene is being analyzed:
     State specifically whether there will be any benefit to the subject for participating in this study, and what that benefit may mean. For example, you might state:

     The study may be of benefit to you if we obtain information that will help you in your life plans. If we find that the genes we are looking at are normal in your sample, you may feel a sense of relief if it appears that you are unlikely to develop

   • Subjects should also be warned of potential harm:

   If we find out that you have unusual genetic material, this may be stressful to you, even if we do not know the clinical relevance.

   • If the diseases you are looking at are incurable and/or there is no effective treatment, you should state this. Add,

   Society may benefit from this study if the results lead us to an understanding of the genetic basis of XYZ. This information may in turn help lead to an effective treatment and/or cure.

2. Under Procedures
   • For basic research studies where results will not be revealed:

     Blood samples will be taken from people in your family. This blood will be used only for obtaining genetic material (DNA). The blood sample is for research purposes only, and we will only be looking at genes thought to be related to XYZ. The tests that will be done will not be diagnostic, and you will receive no specific results. A qualified genetics counselor, Ms. QQQ (telephone xxx-xxxx), is available to discuss genetic testing in general with you.

   • For a study where a specific gene is being analyzed:

     We will draw about 2 teaspoons of blood from a vein in your arm. This blood will be used only for obtaining genetic material (DNA) so that we can analyze your XYZ gene. A qualified genetics counselor will discuss the results of the genetic tests with you, including any information of clinical relevance, if you would like to know the results. You have the right not to know the results of the tests.

3. Under Risks, Stress, or Discomfort
   • inform subjects of the risks of learning about genetic information, including emotional stress.
   • state something like,

     It is theoretically possible that participation in this genetics study might hurt your access to health insurance if information about your involvement and/or results of the study become part of your medical record. Therefore, we will keep all study data out of your medical record by keeping this information completely separate.

4. Under Other Information
   • please explain to subjects how you will protect the confidentiality of the study data. Describe how the data will be coded and stored. Inform subjects that the investigators themselves will not tell family members the results of other family members' tests. Inform subjects of what precautions you will take to keep genetic information out of their medical records. For example:

     The samples will be coded and the identity of each participant will remain strictly confidential. Samples may be stored indefinitely until they are needed. Only the investigators and their research assistants will have access to the original research data. Data will be stored in a locked file and in a computer with restricted access. Data will be completely confidential, and will not be revealed to family members, insurance companies, employers, or other individuals or organizations. Participant's study records and medical records will be kept completely separate and no study data or information about subjects' participation in the study will be entered into medical records. Neither you nor the your insurance company will be billed for any study procedures.

   • state whether blood samples will be used to make permanent cell lines (explain in lay terms). Explain how long samples will be stored and/or how long cell lines will be maintained. Inform subjects as to whether they may withdraw their samples if they choose to. For example:

     You may withdraw from the study at any time and you may request that your sample be permanently removed if it has not already been used.

   • If relevant, describe the registry. State that identifying information will be stored with samples, and describe what information will be included (e.g., name, phone number, descriptive information about the subject). Include the sentence,

     In the future, other scientists who study disorders similar to the one in your family may use the information in the registry to contact you to invite you to participate further in this or a similar study.

     If possible, give an indication as to what other studies might be conducted using the samples. Assure subjects that they will be approached again to sign a new consent form for the new genetic studies and that they are free to refuse to take part in any study. In addition, give the subjects a choice as to whether they want to be in the registry. For example, after explaining the registry, you might include two check boxes as follows:

     I agree to allow my sample and identifying information to be included in the registry ______"
     "I do not wish my sample and identifying information to be included in the registry ______"

     Add,

     You may at any time request that your sample, together with any descriptive information in the registry, be permanently removed.