Sample Consent Form

University of Virginia Medical Center
Informed Consent Form for the
Huntington's Disease Direct Genetic Test

I request predictive testing for the presence of the Huntington's Disease gene. I understand that the gene for HD has been found and is located on Chromosome 4. It has been described as having a trinucleotide (CAG) repeat mutation. It is the size of this trinucleotide repeat which determines whether or not HD will be expressed. The blood test will determine the size of this CAG repeat.

I understand that there can be three outcomes to my test:

  1. Negative: I will be told that the CAG repeat size is in the normal range (35 or fewer repeats) and that I am not likely to develop HD.
  2. Positive: I will be told that the CAG repeat size is expanded into the HD range (40 or more repeats) and that I am highly likely to develop HD at some point in my life.
  3. Uninformative: I will be told that the CAG repeat size is in the intermediate range (36-39 repeats) and that it is unclear whether I will or will not develop HD at some point in my life.

I understand that a positive test result cannot tell me when I will begin showing signs of HD. I understand that the diagnosis of the onset of HD can only be made through a neurological exam.

If available, it is recommended that this blood test first be performed on an affected family member in order to confirm the presence of HD in my family. I understand it is my responsibility, working with the staff of the testing site, to arrange for the necessary blood sample(s) to be collected and sent to the appropriate laboratory.

I agree to participate in the counselling sessions and neurologic exam required for the test. Sessions will last from one to three hours. I am aware that the neurological examination may disclose that I have clinical signs of Huntington's Disease. Time between sessions will vary depending upon my own desire for space between visits and the number of other people scheduled for testing and neurologic consult. I understand that during this time I will take part in psychological evaluations, including in-depth interviews regarding my attitudes toward predictive testing, how I could react to various test outcomes, my personal relationships, how I would handle these, and other aspects of psychological functioning which have a bearing on the testing procedure.

I agree to select and meet with a local therapist (social worker, psychologist, psychiatrist, minister). I understand it is critical to have this emotional support in place before the test results are given; you will help me to identify an appropriate therapist in my area, if requested. This person should be someone whom I can trust and feel comfortable discussing HD with. I agree to provide the name of this person to you so that you can contact this person and let him/her know that the members of the Huntington's Disease team will serve as a resource regarding HD. At least one follow-up session with the HD team psychologist is recommended with a positive test result. More may be requested as they are needed and desired.

I am fully aware that my decision to seek testing in the program is wholly voluntary and that I can choose to withdraw at any time without jeopardy. If I decide to withdraw from the program, I agree to at least one visit with the test staff following my decision. I also understand that the HD program staff may decide to postpone my testing. The reasons for doing this will be fully explained to me.

I understand that I am encouraged to have a companion of my choice accompany me through the entire program or parts of it as I choose.

The risks of such testing are primarily psychological. A negative result, indicating that I am not likely to develop HD, can produce feelings of guilt as well as joy. A positive result, indicating that the HD gene is present, could lead to serious psychological consequences including feelings of depression, futility, despair, and severe stress. An uninformative outcome can be frustrating and can intensify the ambiguity of the risk situation or can provide relief. Counseling provided during the testing process is designed to help me adjust as well as possible to negative, positive, or uninformative information. Counselors will discuss with me other possible risks such as difficulties with confidentiality, employment, or insurance.

Physically, risks include the discomfort of a needle prick and the possibility that a bruise may form of a result of blood being drawn.

I understand that I will be responsible for the costs of testing, which should be about $1500-2000 on average. Some of these costs may be covered by third-party coverage, but insurance payment will require disclosure of test information.

I understand that all information will be held strictly confidential. The results of testing will be given only to me, in person, and will be released only with appropriate consent from me or other appropriate legal consent.

Information obtained from the test may be used in scientific publications, but the identity of all persons in the test will not be revealed in such publications or in any other report. I have given accurate information about the biological relationships of my family members to the best of my ability and understand that incorrect information may result in an incorrect diagnosis. I also understand that DNA testing on multiple family members may indicate that a person named as a father of an individual may not be that individual's biological father (i.e., non-paternity).

My signature on this form signifies that I have decided to participate in this testing program after reading the above information.

I have been given the opportunity to discuss pertinent aspects of the testing program, to ask questions, and hereby consent to participation in the testing outlined above.

University of Virginia HD Testing Program Staff

Genetics:

  • Thaddeus Kelly, M.D., Ph.D. (804) 924-2665
  • Patricia Allinson, M.S.

Neurology:

  • Madaline Harrison, M.D. (804) 924-5568
  • Carol Manning, Ph.D. (804) 982-1012
  • H. Robert Brashear, M.D. (804) 924-5610

Psychiatry:

  • Barbara Haskins, M.D. (540) 332-8429/8152

Social Work:

  • Ken Cady, M.S.W. (804) 924-8747