Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease.

Genetic testing for Alzheimer disease includes genotyping for apolipoprotein E, for late-onset Alzheimer disease, and three rare autosomal dominant, early-onset forms of Alzheimer disease associated with different genes (APP, PSEN1, and PSEN2). According to researchers, patents have not impeded research in the field, nor were patents an important consideration in the quest for the genetic risk factors. Athena Diagnostics holds exclusive licenses from Duke University for three "method" patents covering apolipoprotein E genetic testing. Athena offers tests for apolipoprotein E and genes associated with early-onset, autosomal-dominant Alzheimer disease. One of those presenilin genes is patented and exclusively licensed to Athena; the other presenilin gene was patented but the patent was allowed to lapse; and one (amyloid precursor protein) is patented as a research tool. Direct-to-consumer testing is available for some Alzheimer disease-related genes, apparently without a license. Athena Diagnostics consolidated its position in the market for Alzheimer disease genetic testing by collecting exclusive rights to patents arising from university research. Duke University also used its licenses to Athena to enforce adherence to clinical guidelines, including elimination of the service from Smart Genetics, which was offering direct-to-consumer risk assessment based on apolipoprotein E genotyping.