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.


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Filed under Direct-to-Consumer Services, General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomics & Medicine, Genomics & Society, Industry News, Legal & Regulatory, Patents & IP, Pending Regulation

The Genomics and Personalized Medicine Act Returns to Congress

Meggan Bushee is a student at the Wake Forest University School of Law.

This past May, Congressman Patrick Kennedy (D-RI) and Congresswoman Anna Eshoo (D-CA) re-introduced a personalized medicine bill to the U.S. House of Representatives. The bill was originally introduced in 2006 by then-Senator from Illinois Barack Obama. While HR 5440, also known as the Genomics and Personalized Medicine Act of 2010 (GPMA 2010), has retained the name of the bill originally introduced by Senator Obama, its approach to the regulation of personalized medicine has taken a new direction.

GPMA 2010 is the fourth version of the GPMA since the original bill of 2006, and includes the most ambitious initiatives of all of its predecessors. Why has the GPMA re-surfaced after three prior versions failed to make it out of committee? According to Representative Kennedy, the bill has been re-introduced in response to increased public awareness and use of genomic tests. At present, GPMA 2010 is before the House Committee on Energy and Commerce. This is the same committee that recently conducted high-profile hearings to review the current state of the direct-to-consumer (DTC) genetic testing registry.


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Filed under Biobanking, Direct-to-Consumer Services, General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomics & Society, Industry News, Informed Consent, Legal & Regulatory, Pending Regulation, Privacy

The Past, Present and Future of DTC Genetic Testing Regulation

[Editor’s Note: Newsweek science editor Mary Carmichael has a DNA Dilemma. As Carmichael debates whether to take a direct-to-consumer (DTC) genetic test, she is soliciting feedback from the DTC community, from the public and from other commentators, including myself. At the end of the week, she will make her decision.

On Tuesday, Carmichael and five commentators examined what can be learned from a DTC genetic test. Yesterday, the topic was whether DTC genetic tests are trustworthy, and whether the results can be cause for concern. Today’s topic is the regulation of DTC genetic tests. In addition to several short commentaries, including a much shorter version of the piece below, Carmichael has also posted a lengthy interview with two top FDA officials on the subject of DTC genetic testing regulation.

The column below is an expanded version of what appears over at Newsweek. To see all of the commentaries in Carmichael’s series, click here.]

The recent media attention focused on direct-to-consumer (DTC) genetic tests has left companies, investors, consumers and even regulators scrambling to figure out what comes next.

As the situation stands today, companies and their investors live in a climate of unprecedented regulatory uncertainty, causing delays in the introduction of new products and rendering an already inhospitable economic climate – for both fundraising and sales – even more challenging. Commentators and regulators caution consumers that some DTC genetic tests may be unreliable or, worse, harmful, but have yet to provide clear tools and guidelines for evaluating competing tests. And regulators, including the FDA, must balance their mandate to protect the health and safety of the public with that same public’s desire for autonomy, while also recognizing that innovation is a prerequisite for a healthcare system that must continue to improve outcomes while reducing costs.

Clearly, something must change. But what will that change be? And how will the field of DTC genetic testing evolve? Will DTC be able to continue its current business while regulators and companies engage in protracted negotiations? Will oversight weed out the “snake oil salesmen” and permit legitimate companies to flourish? Will it drive all genetic testing (temporarily) out of the hands of consumers?

Or will the field change in a dramatic and completely unexpected way?


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The Conversation Continues: Recap from Day Two of FDA’s Regulatory Meeting

The second and final day of the FDA’s “Public Meeting on Oversight of Laboratory Developed Tests” (LDTs) brought forth many of the same comments and themes as the first. The primary difference was that, whereas the first day began with some comments from the Agency that provided a few hints about what the FDA has in store for LDTs, the second day was notable for the FDA’s near-total silence (although key officials were present and listening). Indeed, perhaps the loudest applause of the day was reserved for Sharon Terry of Genetic Alliance, who remarked that while she was glad the FDA had invited so many comments, “it would be nice [if the Agency] would say something back.”

Something Old, Something New. In addition to a reiteration of yesterday’s themes – especially the need for additional data demonstrating how LDTs are used and what harms, if any, they have inflicted on consumers and patients – a few new areas of discussion emerged over the course of the day. Those included:


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Transparency First: A Proposal for DTC Genetic Testing Regulation

These are hectic days for the field of direct-to-consumer (DTC) genetic testing. Every week, and sometimes every day, seems to bring a new development. Two weeks ago it was pharmacy giants Walgreens and CVS unveiling agreements with Pathway Genomics to offer Pathway’s genetic testing kits in drugstores nationwide, to which the FDA responded first by declaring such a strategy illegal and, shortly thereafter, launching an investigation. Last week, on the same day that the University of California, Berkeley announced it would be offering genetic tests to all incoming freshmen, a House of Representatives committee announced it was launching its own investigation into three prominent DTC genetic testing companies.

These developments reflect an uncertainty about the regulatory status of DTC genetic testing that is dramatic, although it is not new. In the summer of 2008, public health officials in New York and California sent warning letters to a number of DTC companies, including 23andMe and Navigenics (both targets of the current Congressional investigation). These state regulatory activities prompted concern that other states might follow suit, potentially subjecting DTC companies to the nightmare scenario of inconsistent state-by-state regulation. Nearly two years later, those particular concerns appear to be unfounded.


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More on Pathway and Walgreens: The Price of Visibility and Adding the FTC to the Regulatory Mix

Yesterday, direct-to-consumer (DTC) genetic test provider Pathway Genomics and drugstore giant Walgreens announced a partnership that will place Pathway’s tests on the shelves of thousands of Walgreens stores across the country. Earlier coverage from the GLR reviewed the announcement in detail, and examined whether the Pathway/Walgreens partnership might prove to be the catalyst for increased FDA regulation of DTC genetic tests.

Introducing the FDA to Pathway, but not to genetic testing. Continuing national media coverage has focused on comments from the FDA that the agency was unaware of Pathway’s genetic test and that it has opened an investigation into its legality. Yesterday, Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD) Director Alberto Gutierrez told The Washington Post that he thought Pathway’s genetic test “would be an illegally marketed device” if the company proceeded with the announced Walgreens partnership. Gutierrez was also widely quoted as saying that the FDA was not aware of the test previously and that the agency was “in the process of investigating the test.”


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The Importance of Balance in Evaluating DTC Genomics

Way ForwardEarlier this week the New York Times published a generally alarmist and one-sided piece (“Buyer Beware of Home DNA Tests”) advising consumers to steer clear of direct-to-consumer (DTC) genetic testing and genomic services providers. The Times piece advises consumers to opt instead for a certified medical geneticist or genetic counselor even as it acknowledges, in the next paragraph, “a relative shortage of genetic counselors to clarify the significance of test results, and the fact that most practicing physicians lack the knowledge and training in genetics to interpret them properly.”

There’s no need for me to dissect and evaluate the arguments against DTC genomics made in the article. That task has been ably carried out by Daniel MacArthur, Blaine Bettinger and Jens McCabe. And it’s worth mentioning that the Times’ DTC genomics coverage has been relatively rich and varied (see, e.g., the now infamous “spit party” coverage, 23andMe co-founder Anne Wojicki’s Q&A on the Freakonomics blog or Steven Pinker’s excellent piece in the Times magazine, “My Genome, My Self”).

I do want to weigh in, however, on the potential consequence of the paternalistic medical establishment viewpoint that is advanced in the Times article, which paints DTC genomics as an industry lacking in analytic validity, clinical validity, clinical utility and (in what was a new concept for me) “ethical validity.” In failing to acknowledge any of the benefits provided by DTC genomics (which MacArthur, Bettinger and McCabe all highlight), the Times article invites readers (including legislators) to plausibly conclude that a legitimate solution might be simplyto restrict the business of genomic interpretation to traditional medical professionals. This is, in fact, exactly what Germany is proposing to do on a national level, but this type of genetic paternalism—largely a byproduct of a genetic exceptionalism perspective—is an extreme position, with most legislators taking a more measured approach, at least to date.


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The Scientific Foundation for Personal Genomics: Recommendations from the Joint NIH-CDC Workshop

conferenceLast 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.


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A Closer Look at Biobanking of Newborn Blood Spots

Under established state public health programs, hospitals nationwide collect blood samples from the majority of the more than 4 million U.S. newborns each year to screen for genetic and metabolic disorders.  This is widely viewed as a valuable program that can lead to early diagnosis and treatment of potentially serious conditions and is normally controversial only when the parents object to testing.

Blood CellsAt present, although there is some national coordination of newborn screening programs, there is no uniform policy governing the disposition of newborn blood samples after screening is complete.  Some states store the samples for a limited period of time and then discard them.  Others, including Minnesota and Michigan, permit researchers to use the samples, including to conduct pilot studies designed to develop additional newborn screening tests.  Michigan is even facilitating (although not funding) the development of a “Neonatal BioTrust” in the hopes of drawing biomedical companies to the state.

And additional guidance from the federal government is likely forthcoming.  Late last year the National Institute of Child Health and Human Development, a division of the National Institutes of Health (NIH), awarded the American College of Medical Genetics (ACMG) a $13.5 million, 5-year contract for the development of a National Newborn Screening Translational Research Network.  One of the network’s many aims is to facilitate the creation of a “reliable repository of residual dried bloodspots that is either virtual or physical and comprised of those stored by state newborn screening programs and other resources.”


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