Children & Youth Institutional Review Board

Informed consent guidelines for genetic research

In many clinical research programs now, there is an interest in obtaining a sample of blood or tissue for genetic analysis. The storage of the sample, its coding, storage, transfer to others and means by which the results linked to that sample are disclosed are important issues and have consequences for patient privacy and confidentiality. The public concern that the information could be used for discrimination in insurance or employment requires sensitivity and safeguards. At the same time, it is important for the subject to understand that much genetic information requires sophisticated interpretation or has no interpretation presently. In developing the informed consent for the use of genetic materials, it is important to clarify what samples are to be used, how these will be coded, any disclosures of results, the duration of storage and the security of the data. It may be easier to have a separate consent for a genetic substudy, as some individuals will participate in the main study, but not consent for genetic studies.

• The following are key elements of the informed consent for studies collecting genetic information.
  • Purpose of the study: Indicate the reason for the genetic study and why it is important in this instance. The language should be understandable, e.g. ‘identify genetic reasons for a better response to a type of drug’ or ‘identify the gene responsible for the action of this drug’.
  • Procedures: Describe how the sample is being collected. Describe who will handle the sample. Describe where the sample will be stored and for how long. Indicate whether the subject may be contacted in the future about the sample.
  • Risks and benefits: Describe the usual risks associated with the collection of the sample. Describe any potential risk if the genetic information is disclosed, either intentionally or inadvertently.
  • Confidentiality of the patient information: Describe what mechanisms will be used to protect the confidentiality of the sample. Describe plans to destroy the sample in the future. Indicate whether the sample may be withdrawn at a later date if the subject changes his/her mind about participating in the genetic portion of the study.
  • Commercialization: Subjects need to be aware that there could be a potential for commercial benefit from results obtained with their sample. If so, it needs to be clearly stated that the subject will not be a recipient of any financial reward.

• There are a number of ways to code the sample, depending upon the information being collected and the access desired in the future. The linkage is important because the sample may be so anonymized that it may not be withdrawn in the future.
  • Identified samples: These are labeled with personal identifiers such as name or SS number. The use of a clinical trial subject code does not make the sample/data identified.
  • Coded samples: These are labeled with a clinical trial subject number that can be traced or linked only by the investigator. The samples themselves do not carry any personal identifiers. The investigator code is available only to him or designated individuals.
  • De-identified samples: These are double coded and labeled with a unique second number. The link between the clinical subject number and the unique sample number is maintained, but unknown to the investigators or patients.
  • Anonymized samples: These are double coded and labeled with a unique second number, with the link between the second number and the unique second number being destroyed. These samples could not be traced back.
  • Anonymous samples: These never had any personal identifiers and the subject identity remains unknown. These usually come with population information such as (the samples are from patients with type II diabetes), but there is no individual clinical data.