Bulletin #4 Dealing with Genes (4/2000)

Studies Involving Genes

Prepared by Jack Taylor M.D., Ph.D.

Studies that include genotyping of individuals for rare variants or polymorphisms involve special issues of consent. Although such studies are common, the issues for consent are evolving rapidly and are subject to change. We can, however, provide some general suggestions for elements to be contained within the consent form and highlight some of the problem areas.

If you plan to obtain blood, buccal, or other material for genetic analysis the use of this material for genetic assays should be stated clearly in the consent form. To the degree possible, you should state which genes you plan to examine and why you wish to examine them. It is currently possible to obtain a more general genetic consent for "any" gene, although this is a rapidly changing area for IRBs. An intermediate strategy might involve naming specific classes of genes, for example those involved with a specific disease, or a specific metabolic pathway. Less specific categories of genes may be more problematic for the IRB to approve. This can be mitigated by dealing only with anonymous samples. Other strategies might include stipulating to the IRB that only genes that are not established as risk factors for disease will be considered, or that only genes that are likely to have low risk will be considered. The consent requirements for looking at a rare, well established, high penetrance gene like BRCA1 are considerably higher than for looking at a common, newly discovered polymorphism of unknown consequence in a metabolism gene.

If you are planning to store samples for future analysis this should be clearly stated in the consent. If you wish to do some genetic assays now, and archive samples for the future that too should be stated. Some IRBs have required new consent for each new gene to be tested, although the NIEHS IRB has not adopted that practice.

The patient should be given the option to have samples destroyed at a later date, or if this cannot be an option, it should be explicitly stated that samples once donated cannot be subsequently destroyed at the patient's request (this is commonly the case when samples are subsequently made anonymous).

Unless genotyping is being done by a clinically-certified laboratory (CLEA certification) results should not be returned to the patient or placed into the medical record. This should be clearly stated in the protocol and consent. If results are to be returned to the patient a whole host of issues arise that are beyond the scope of this document, including a requirement to offer genetic counseling services.

As with other aspects of consent, the risks and benefits of genotyping should be addressed in the consent form.

For information on storing and the use of stored samples see Sheet 14 (http://www.nihtraining.com/ohsrsite/info/sheet14.html) - NIH Requirements for the Research Use of Stored Human Specimens and Data and the DDIR Memo (http://www.nihtraining.com/ohsrsite/info/DDIR.html) from the Deputy Director for Intramural Research, NIH, clarifying NIH requirements.

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