Structuring the Review of Human Genetics Protocols Part II: Diagnostic and Screening Studies

Abstract

to many IRB members. As with other protocols, the IRB must evaluate the validity and value of the research, subject eligibility criteria and recruitment strategies, quantification or prediction of risks and benefits, disclosure of information to prospective subjects, privacy and confidentiality, and protocol monitoring. In reviewing genetics research, the challenge for IRBs is to recognize when new issues are presented, and to determine whether they are addressed appropriately by the investigators before recommending approval, amendment, or disapproval of protocols. In previous work, we addressed the review of gene localization and identification protocols.1 We have designed the present article to assist investigators and IRB members in their review of genetic dignostic and screening protocols. We provide a general description of diagnostic and screening studies, set out a checklist/critical path identifying issues for IRB review (table 1), and discuss in greater detail several points of controversy raised by this kind of research. A glossary is provided for terms that are not defined in the body of the text (table 2). Because gene localization and identification protocols and genetic diagnostic and screening studies frequently contain overlapping issues, we recommend that the two articles be read together.