Your Rights In Testing

Your Rights In Consideration When Testing

From the Guidelines For Predictive Testing In Huntington's Disease

PrintWORD: Your Rights

Comments
1. All individuals who may wish to take the test should be given up-to- date, relevant information so that they can make an informed, voluntary decision.

Counseling of the highest standards should be available in each country. It is recommended that, as a standard medical practice, informed consent for the test be documented with the signature of the person to be tested and the professional responsible for the counseling.

The decision to take the test is the solely choice of the individual concerned. No requests from third parties - family or otherwise - shall be considered.

2. The individual must choose freely to be tested and must not be coerced by family, friends, partners or potential partners, physicians, insurance companies, employers, governments, or others.
2.1 The test is available only to individuals who have reached the age of majority (according to the laws of the respective country).
2.1 A prenatal test may constitute an exception to this rule. Testing for the purpose of adoption should not be permitted, since the child to be adopted cannot decide for himself or herself whether to be tested. It seems appropriate and even essential, however, that the child be informed of his or her at-risk status upon reaching the age of reason.
2.2 Each participant should be able to take the test regardless of his or her financial situation.
2.2 Each national lay-organization should use its influence with government departments, public and private health insurers, and other organizations to reach this goal.
2.3 Individuals should not be discriminated against in any way as a result of genetic testing for Huntington's Disease.
2.4 Extreme care should be exercised when testing would provide information about another person who has not requested the test.
2.4 This issue will arise when a child at 25% risk requests testing with full knowledge that his or her parent does not want to know his or her own status. Every effort should be made by the counselors and the individuals concerned to arrive at a satisfactory resolution of this conflict.
A considerable majority of representatives from the lay organizations feel that if no consensus can be reached, the right of the adult child to know should have priority over the right of the parent not to know.
2.5 For applicants with evidence of a serious psychiatric condition, it may be advisable that testing should be delayed and support services put into place.
2.6 Testing for HD should not be part of a routine blood investigation without the specific permission of the subject.
2.6 Such a specific permission should in principle also be required for symptomatic individuals.
2.7 Ownership of the test results remains with the individual who requested the test. Legal ownership of the stored DNA remains with the person from whom the blood was taken.
2.7 The consent form should address this issue. Local legal opinions may be helpful.
2.8 All laboratories are expected to meet rigorous standards of accuracy. They must work with genetic counselors and other professionals providing the test service.
2.8 The lay organizations can provide an inestimable service in enquiring about the standards of the laboratory and can assist individuals who want to be or have been tested with their inquiries and concerns.
2.9 The counselors should be specifically trained in counseling methods and form part of a multidisciplinary team.
2.9 Such multidisciplinary team should consist of, egg., a geneticist, a neurologist, a social worker, a psychiatrist and someone trained in medical ethical questions.
3. The participant should be encouraged to select a companion to accompany him or her throughout all stages of the testing process: the pretest stage, the taking of the test, the delivery of the results and the post-test stage.
3. This companion may be the spouse/partner, a friend, a social worker, or any individual who has the confidence of the participant. It may not be appropriate that the companion to be another at-risk individual.
3.1 The counseling unit should plan with the participant a follow-up protocol that provides for support during the pre- and post-test stages regardless of whether the participant chooses a companion.
3.1 Support should be available close to the individual's community.

4. Testing and counseling should be provided within specialized genetic counseling units knowledgeable about molecular genetic issues in Huntington's Disease, preferably within a university department. These centers should work in close collaboration with the lay-organization of the country.
4. Often the test will be conducted at a site other than the counseling center. If no lay-organization exists in the country, the center should contact the IHA.
4.1 The laboratory performing the test should not communicate the final results to the counseling team until very close to the time such results are to be revealed to the participant.
4.1 The aim is to protect the participant from the possibility of counseling bias at any time (See also comment 5.2.5).
4.2 Under no circumstances shall any member of the counseling team or the technical staff communicate any information concerning the test and its results to third parties without the written permission of the applicant.
4.2 Only in the most exceptional circumstances,(i.e.., prolonged coma, death, and the like)., may information about the test results, if so requested, be provided to family members.
4.3 Neither the counseling center nor the test laboratory should establish direct contact with a relative whose DNA may be needed for the purpose of the test without permission of the applicant. All precautions should be taken when approaching such a relative.

ESSENTIAL INFORMATION:
5. "Essential information" is information that is absolutely vital to the whole test procedure.
-5.1 General Information
5.1 This information should be presented both orally and in written form and be provided by the team responsible for the testing service.
5.1.1 On Huntington's Disease, including the wide range of its clinical manifestations, its social and psychological implications, its genetic aspects, options for procreation, availability of treatment, and so forth.
5.1.1 It must be pointed out that at this time neither prevention nor cure is possible.
5.1.2 On the implications of non-paternity (and non-maternity).
5.1.2 Genetic testing may show that the putative parent is not the biological parent; this should be brought to the attention of the applicant and discussed. With the availability of techniques as in vitro fertilization, etc., even cases of non-maternity may occasionally be discovered.
5.1.3 On support and information from lay organizations, including their documentation on HD, addresses for help and social contacts, and so forth.
5.1.3 If no lay-organization exists in the country, contacts can be made with the IHA or lay organization in a neighboring country.
5.1.4 Psychosocial support and counseling must be available before the test procedure commences.
5.1.4 Lay organizations should be mentioned as an additional source of support and information.

-5.2 Information Pertinent To The Test

5.2.1 How the test is done.
5.2.2 Possible need for DNA from one other affected family member and the possible problems arising from this.

5.2 Information Pertinent To The Test continued

5.2.2 Asking an affected individual, who may be unaware of or unwilling to acknowledge his or her symptoms, to contribute a blood sample, may be an invasion of privacy.

5.2.3 The limitations of the test (error rate, the possibilities of an uninformative test, and so forth.)

5.2.4 The counselor must explain that, although the gene defect has been found, at the present time no useful information can be given about age at onset or about the kind of symptoms, their severity, or the rate of progression.
5.2.4 Much more information will be needed about implications of the number of repeats.
5.2.5 The predictive test indicates whether someone has or has not inherited the gene defect, but it does not make a current clinical diagnosis of HD if the gene is present.
5.2.5 Particular care should be taken with participants who are believed to be showing early symptoms of HD; however, individuals with established, unacknowledged symptoms should not automatically be excluded from the test and should receive additional counseling.

-5.3 Information On Consequences
5.3 All consequences have to be discussed - those related to the presence or the absence of the gene defect as well as those related to not taking the test.
5.3.1 For the individual him or herself.
5.3.2 For the spouse/partner and children.
5.3.2 If the companion of the participant is not his or her spouse/partner, special consideration should be given to such spouse / partner.
5.3.3 For the affected parent and his or her spouse.
5.3.3 The feelings of this affected parent, who may well become aware of the results, must be taken into account.
5.3.4 For the other members of the participant's family.
5.3.4 Whatever information is obtained, it will influence the feelings of other relatives and the participant's relationship with them.
5.3.5 Socioeconomic consequences of the test results, including potential employment, insurance, social security, data security and other problems.

-5.4 Information on Alternatives The Applicant Can Consider
5.4.1 Not to take the test for the time being.
5.4.2 To deposit DNA for research.
5.4.3 To deposit DNA for possible future use by family and self.
5.4.4 DNA deposited under 5.4.2 above would be made available to the donor's family members at their request after the death of the donor if it is essential to obtain an informative result.
5.4.5 In the case of DNA deposited under 5.4.2 and/or 5.4.3 above, the unit collecting the DNA must provide a written declaration that samples will not be used for purposes other than those specified in the said declaration with the exception of the provisions of 5.4.4.

IMPORTANT PRELIMINARY INVESTIGATIONS:

6.1 It is important to verify that the diagnosis of HD in the family of the individual is correct.
6.2 Neurological examinations and psychological appraisal are considered important to establish a baseline evaluation of each individual. Any other specialized tests are always noncompulsory; refusal may not affect participation in the test.
6.2 Refusal to undergo these and other additional examinations will not justify the withholding of the test from applicants.

ANTENATAL DIAGNOSIS:
7.1 It is essential that antenatal testing for the HD mutation should only be performed if the parent has already been tested. For a possible exception see 7.3.
7.1 It is highly desirable that both parents should agree to an antenatal test. If there is a conflict, every effort should be made by the counselors and the couple to reach an agreement. Exceptional circumstances (egg rape or incest) may justify deviating from this recommendation.
7.2 The couple requesting antenatal testing must be clearly informed that if they intend to complete the pregnancy if the fetus is a carrier of the gene defect, there is no valid reason for performing the test. Furthermore, this situation is contrary to recommendation 2.1, since a child thus born with the gene defect cannot elect not to take the test upon reaching majority..
7.2 Testing a fetus carries with it a small additional risk of miscarriage and, possibly, of congenital abnormality.
7.3 Test centers may still perform an exclusion test for a future pregnancy if a 50% at-risk person specifically requests it. For this test the at-risk individual and the partner, parents and fetus are tested only with adjoining DNA probes.
7.3 The purpose of the exclusion test, which has frequently been performed before the gene defect itself had been found, is to permit a 50% at-risk person to exclude the possibility of having affected children without changing his or her 50% at-risk status. This includes the termination of pregnancies where the fetus is 50% at-risk and continuation of pregnancies where the fetus is only at low risk.

THE TEST AND DELIVERY OF RESULTS:

8.1 Excluding exceptional circumstances, there should be a minimum interval of one month between presentation of the pretest information and the decision whether or not to take the test. The counselor should ascertain whether the pretest information has been properly understood and should take the initiative to be assured of this. However, contact will only be maintained at the applicant's request.
8.1 Antenatal testing may be such an exception circumstance.
Such an interval is necessary to give the individual sufficient time to assimilate the pretest information in order to make an informed decision. During this interval, specialists from the test center must be available for further consultation.
8.2 The result of the predictive test should be delivered as soon as is reasonably possible after completion of the test, on a date agreed upon in advance between the center, the counselor, and the participant.
8.3 The manner in which results will be delivered should be discussed by the counseling team and the individual.
8.4 The participant has the right to decide, prior to the date fixed for the delivery of the results, that these results shall not be revealed to him or her.
8.5 The results of the test should be reveled in person by the counselor to the individual and his or her companion. No result should ever be revealed by telephone or by mail. The counselor must have sufficient time to discuss any questions with the individual.
8.6 All post-test provisions (see section 9) must be available from the moment the test results are revealed.

POST-TEST COUNSELING:
9.1 The frequency and the form of the post-test counseling should be discussed by the team and the participant prior to the performance of the test, but the participant has the right to modify the planned program. Although the intensity and frequency will vary from person to person, post-test counseling must be available at all times.
9.2 The counselor should have contact with the individual within the first week after delivery of the results, regardless of the nature of the results
9.3 If there is no further contact within one month of the delivery of the test results, the counselor should initiate the follow-up.
9.4 It is essential that post-test counseling be made available regardless of the person's financial situation.
9.5 The lay organization has an important role to play in the post-test period. The information and support that it can provide should always be offered to the participant regardless of whether he or she belongs to that organization.