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.
Genetic Bill of Rights Proposed in Massachusetts
On January 21, 2011, the Massachusetts Genetic Bill of Rights (MA GBR) (pdf) was introduced before the Massachusetts state legislature. At its core, the proposed legislation establishes property and privacy rights for genetic information and genetic material, while providing protections designed to shield individuals from genetic profiling and other misuses of genetic information.
Taken as a whole, the legislation, if enacted, would confer upon Massachusetts residents a significantly expanded set of genetic rights than exist under current federal law. Below we examine several of the bill’s most noteworthy proposals.
The MA GBR addresses perceived gaps and limitations in the coverage provided by major federal statutes, including the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and the Genetic Information Nondiscrimination Act of 2008 (GINA), and the Constitution of the Commonwealth of Massachusetts, by seeking to place genetic information on a par with medical records.
The MA GBR’s provisions set basic limitations on the use, including the commercial use, of personal genetic information that would go above and beyond the user agreements and privacy policies employed by some commercial services. For example, the MA GBR prohibits the use of genetic information for marketing or determining credit worthiness. With the proliferation of genetic information, particularly in consumer or commercial contexts, such basic limitations would help address concerns about the lack of mandatory restrictions regarding the sale, transfer or other use of personal genetic data.
The Personal Property Theory of Personal Genomes. But the MA GBR goes much further than mere consumer protection reforms. Section 1 of the proposed legislation explicitly declares genetic information to be “the exclusive property of the individual from whom the information is obtained.” (emphasis added)
Personal Genomics Goes to Washington
Next week, the eyes of the personal genomics world will be focused on Washington, D.C., where the FDA and Congress will be meeting separately to consider the industry’s future. First, the FDA will convene a highly-anticipated public meeting (July 19th and 20th) to “discuss how the agency will oversee laboratory-developed tests (LDTs).” The FDA announced last month a proposal to develop a “risk-based” approach to oversight of all LDTs – a broad category that includes the vast majority of genetic tests, including high-complexity diagnostic tests (IVDMIAs) and direct-to-consumer (DTC) genetic tests. Hot on the heels of the FDA meeting, on July 22nd, the House of Representatives Committee on Energy and Commerce – which two months ago launched its own investigation into the personal genomics industry – will hold a subcommittee hearing on “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.”1
While the genomics and personalized medicine communities anxiously await the upcoming FDA and Congressional meetings, yesterday the future of personal genomics was being debated on the opposite coast, at a policy forum in San Francisco entitled “Genomics and the Consumer: The Present and Future of Personalized Medicine” (pdf). The forum, which was hosted by California State Senator Alex Padilla (sponsor of S.B. 482, the so-called “bioinformatics bill”) and personal genomics company 23andMe, was filled with speculation from personal genomics investors, providers, customers and commentators about what the FDA and Congress might have in store for the field.
The Scientific Foundation for Personal Genomics: Recommendations from the Joint NIH-CDC Workshop
Last December, some of the true heavyweights in the field of personal genomics convened for a two-day workshop cosponsored by the CDC and NIH to review the science and implementation of personal genomics. Participants included scientific luminaries (e.g., Francis Collins, George Church and Bob Green), personal genomics companies (e.g., 23andMe, Knome, Navigenics, deCODE Genetics and DNA Direct) and policy groups (e.g., Genetic Alliance, Personalized Medicine Coalition and Genetics and Public Policy Center). The workshop and its participants’ recommendations were summarized (pdf) late last month in the journal Genetics in Medicine.
The workshop focused on a review of the “scientific foundation for using personal genomics in risk assessment and disease prevention,” developing five specific recommendations for the future development and use of personal genomics.
1. Develop and implement scientific standards for personal genomics. Of primary importance was the development of scientific benchmarks for evaluating personal genomics testing. Heavily emphasized was the need to establish standards for measuring the clinical validity (how well a genetic variant identifies or predicts an individual’s clinical status) and clinical utility (the health and other benefits of a test balanced against its harms or costs) of personal genomics tests. The importance of voluntary industry guidelines (pdf), randomized clinical trials and economic analysis of personal genomics testing were all discussed.
