Abstract
A research study to identify the priori gene mutation in a family with familial Creutzfeldt-Jakob disease (FCJD) evolved into presymptomatic diagnostic testing. Our experience with one case raises concerns regarding similar studies that will ensue as a result of the Human Genome Project. Technological advances in human molecular genetics make it difficult for Institutional Review Boards (IRB) to adequately evaluate proposed studies. Additionally, changes in the implications of the study may occur after initial IRB approval, due to technological progress. While FCJD, like Huntington's disease (HD), has adult onset and causes progressive dementia and ataxia, protocols established for presymptomatic testing of HD were not included in the FCJD study design. It is thus recommended that IRB committees include a genetics professional and that IRB-approved research studies be reevaluated on a regular basis to monitor the impact that technological advances may have on participating human subjects.
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Ulm, J.E., Vnencak-Jones, C.L. & Bosque, P. Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: Implications for the human genome project. J Genet Counsel 2, 9–15 (1993). https://doi.org/10.1007/BF00962556
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DOI: https://doi.org/10.1007/BF00962556