Bioethics issues in human studies

Genotype information

Disclosure of test results

Scientists' inquiry

Experiences with Ethics Committees

Should the test result be disclosed in any case?

Regarding the disclosure of genotype information, the position of the Ethics Committees across NuGO centres vary: According to the scientists' reports, the Committee

• allows disclosure but only of global results (France)
• prohibits disclosure of any result on gene variants to the study subjects (Netherlands, UK, Germany)
• makes a difference depending on the type of genetic information: allowing (even requiring) disclosure only if of value for the care of the individual or relatives. The presence of a genetic counsellor is imperative (Poland, UK, Ireland, Italy)
• stipulates to offer the information to the participant (i.e., disclose the information upon request by the participant), apparently independently of medical implications associated with the information (UK, Sweden).

Policies of Ethics Committees in UK appear to vary, while those from Netherlands and Germany appear to be more consistently against disclosure. In contrast to the postulated right to know, most ethics Committees across Europe prohibit disclosure or allow it only if of medical interest (and if so, requiring disclosure, at least to the participant's General Practitioner). This regulation follows the International Declaration on Human Genetic Data [14] and the Report on the Preliminary Study by the IBC on the Collection, Processing, Storage and Use of Human Genetic Data [13].

How should the test results be disclosed to the participant? Should genetic counseling be requested in any case?

Asked about the position of the Ethics Committees few scientists report their Committee wants disclosure to take place along with formal personal genetic counselling, or at least "consultation with a consultant physician".

Other Ethics Committees do not request to offer genetic counselling unless test results have proven medical implications for the patient or his/her relatives.

Opinion of the scientists

Should the test result be disclosed in any case?

Personal opinions of the scientists on the disclosure issue:

• The test results on genotype should generally not be disclosed unless considered of value for the care of the individual, on a case by case basis:
  - only if life threatening and
  - only to the participant's General Practitioner (not directly to the participant).
• It seems a necessary prerequisite that the patient be provided with appropriate information and enough time to make a thoughtful and meaningful decision of whether she/he wants or does not want to know the test results.
• Consequently, if the participant chooses not to know, the samples should be permanently stripped of all identifiers, while the decision to know entails the development of working strategies to regulate how and when the test results will be disclosed.
• The participant should have the right to know the results on request, however, only if the government puts laws into place that protects participants from being discriminated or stigmatized by insurance companies.

How should the test results be disclosed to the participant? Should genetic counseling be requested in any case?

• The format of information of test results should be defined in advance (preferably in conjunction with the informed consent). For instance, whether the participants will be informed in a more general way about the study results as a whole or if the participant gets to know his or her actual genotype.
• Disclosure of test results should take place along with genetic counselling or at least with an interpretation of their health/medical implications.
• Especially if of sensitive nature, genotype information has to be disclosed personally, in a face-to-face situation; ideally with an additional written document or follow-up letter.
• A professional genetic counsellor, the study clinician, or the patient's family doctor (General Practitioner or Medical Doctor) should be in charge of the disclosure.
• Some NuGO scientists doubted whether the type of genotype data most likely to be obtained as an output from nutrigenomics studies can be correctly understood and interpreted by clinical geneticists
• There is no consensus among NuGO scientists whether the person responsible of disclosure/counselling should be or should not be directly involved in the study. On one side the opinion was that research personnel have to be educated to give the information, and on the other side it was answered that disclosure should be done by someone outside the research team.