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Translation of Genetic Discoveries into Clinical Therapies
- Daniel G. Hackam, MD, PhD; and
- Abigail S. Hackam, BSc, PhD
- From the University of Western Ontario, London, Ontario N6G 2V2, Canada, and Bascom Palmer Eye Institute, University of Miami, Miami, FL 33136.
Background: Discovering the genetic basis for human disease is thought to be a key step in the search for new treatments.
Objective: To examine the rate at which genetic discoveries translate into randomized trials and approved treatment options, focusing on highly cited genetic research, because such visible work is generally more likely to be tested in the clinical domain (1, 2).
Methods: To identify genetic discoveries, we used Web of Science to search all genetic, medical, and biological journals that publish genetic research and have a citation impact factor of 5 or greater (3). We included original reports of genetic determinants for human diseases that were published between 1975 and 2000 and cited at least 1000 times. We supplemented this search by scanning for references in the Online Mendelian Inheritance in Man database and hand searching Annual Review of Genetics and personal files. Sample size calculations (α = 0.05; β = 0.05) estimated …
