New Diagnostic Guidelines and DTC Testing for Alzheimer’s Disease
Last month, the National Institute on Aging and the Alzheimer’s Association issued new diagnostic guidelines that divide Alzheimer’s disease into three distinct stages, reflecting recent evidence that the disease begins to affect the brain years before symptoms become evident. The expanded definition of Alzheimer’s includes two new phases of the disease:
(1) presymptomatic and (2) mildly symptomatic but pre-dementia, along with (3) dementia caused by Alzheimer’s. This reflects current thinking that Alzheimer’s begins creating distinct and measurable changes in the brains of affected people years, perhaps decades, before memory and thinking symptoms are noticeable.
At least for the moment, the new guidelines are intended to be used only with patients enrolled in clinical trials, making them more of a work in progress and not a standardized method of determining disease onset in Alzheimer’s patients.
Federal Alzheimer’s Activity. The revisions to the diagnostic guidelines – the first in nearly three decades – indicate how far scientists have come in understanding the disease and are reflected in new legislation introduced in both the Senate (S.738) and the House (H.R.1386) that would expand Medicare coverage of Alzheimer’s to cover “comprehensive Alzheimer’s disease diagnosis and services,” including for individuals who fall under stage (1) or (2) of the new guidelines.
SACGHS Chair: Put Patients Before Patents
This afternoon, the journal Genetics in Medicine released an online-only supplement analyzing the relationship between gene patents and genetic testing. The bulk of the issue is devoted to a series of 8 case studies surrounding 10 clinical conditions. The case studies were undertaken over the past several years by researchers at Duke University’s Center for Public Genomics, and were led by Robert Cook-Deegan.
The Case Studies. Those who have been following the gene patenting debate for the past few years may recognize the case studies. They were released in largely their current form in March 2009 as a lengthy appendix to the draft report on “Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests” (pdf) prepared by the Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS).
The SACHGS report has since been finalized and, as we have discussed, was submitted to HHS Secretary Kathleen Sebelius with a series of recommendations, including exemptions to patent infringement liability for clinical care and research. If adopted, those recommendations would significantly reshape the gene patent and licensing landscape.
Duke Finds a Second Alzheimer’s Gene—What Does It Mean?
The recent discovery of a gene linked to Alzheimer’s disease provides a timely context for revisiting the significance of gene patents. Researchers at Duke University Medical Center recently announced that they have identified a second gene (called TOMM40) associated with an increased risk of late-onset Alzheimer’s, which affects people over the age of 65. A team of Duke gene hunters originally identified the first Alzheimer’s gene (APOE) in 1993. Although the announcement prompted warnings about the need for further confirmation, the Duke researchers hope that the analysis of which versions, or alleles, of the two genes that people carry will significantly sharpen geneticists’ ability to predict susceptibility to Alzheimer’s. Those predictions might prove especially useful in both diagnosing Alzheimer’s disease and in developing future Alzheimer’s drugs.
One of the first questions on everyone’s mind, particularly in light of the high-profile lawsuit by the ACLU and others against Myriad Genetics, is whether this newly discovered Alzheimer’s gene could be patented. In principle, yes. Going back at least to the early 1980s, the U.S. Patent and Trademark Office (US PTO) and the federal courts have repeatedly taken the position that genes in isolation from their natural environment (that is, outside the body) are patentable subject matter, just like any other chemical compound. Individual cases have turned on such specifics as whether others had previously identified the gene, or whether and when the patent applicant or others had first disclosed the gene. But there is no general prohibition against patenting genes.
