The Wild, Wild East of DTC Genomics and the Need for Meaningful Self-Regulation

SalesmanEarlier this month CNN reported on the launch of a new program by the Chongqing Children’s Palace (CCP), in Chongqing, China, “that uses DNA testing to identify genetic gifts and predict the future.” In a story seemingly more appropriate for the Onion than for CNN, the article reports that Chinese scientists at the CCP are using the test, which is developed by the Shanghai Biochip Corporation, to “isolate eleven different genes” that will provide “information about a child’s IQ, emotional control, focus, memory, athletic ability and more.”

Shockingly, the CNN story expresses only the barest skepticism about the scientific claims made by CCP. Thankfully, Daniel MacArthur of Genetic Future, stepped in to provide a dose of clarity:

A quick note for any Chinese parents considering having this test performed on their children: you’re wasting your money (and we’re not talking small change – the test costs US$880).

The genetic variants that are currently known to affect traits such as athletic performance and height explain only a tiny fraction of the variation in these traits, so predictions made from genetic tests are extremely weak. In fact, for a trait such as height, parents can make substantially better predictions simply by measuring their own height than they can using the best that modern genetics has to offer…

…this is a scam, pure and simple, preying on parents’ willingness to believe in the power of science and to pay through the nose for anything they think might give their child an extra edge.

Although disappointing, the outlandish scientific claims made by CCP are unfortunately far from unique. Atlas Sports Genetics, which sells a $149 test that promises to predict a child’s natural athletic strengths, has been criticized for using genetic testing “to sell new versions of snake oil.” A Swiss-based DNA dating website, GenePartner, claims to measure the “genetic compatibility between two individuals and make[] an accurate prediction of the strength of their basis for a long-lasting and fulfilling romantic relationship” which, if true, would offer many a $99 insurance policy against vastly greater sums paid to divorce attorneys later in life.


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Crowd-Sourcing vs. Open-Sourcing in Consumer Genomics

crowdsourceThe New York Times yesterday described the emerging phenomenon of utilizing patient and online communities to jumpstart scientific research. In a previous post (Genomic Research Goes DTC) I discussed this trend, as well as a number of the legal uncertainties surrounding this new research model, particularly in the case of genomic research conducted by private companies.

That uncertainty is well covered in the Times article, thanks to Bob Cook-Deegan, Director of Duke University’s IGSP Center for Genome Ethics, Law & Policy, who strikes the proper balance in assessing the exciting but untested model of patient-driven research:

“I’m very suspicious of a company that has tons of private data getting too cozy with the drug or biotech industry,” he said. “But I don’t want to say it’s not going to work, because I can see all kinds of value that could come out of this.”

Where I found the article lacking, however, was in its description and presentation of the patient-driven genomic research model. As the Times describes it:

Supporters of this model—sometimes called crowd-sourcing or open-source research—call it democratization of research and say they are pioneering new models that put patients in control of their data and build bridges between researchers, patients and their doctors. (emphasis added)

It all sounds innovative and patient-friendly, but are “crowd-sourcing” and “open-sourcing” really interchangeable concepts? No, and conflating the two terms obscures one of the key features distinguishing patient-driven research from traditional modes of research.
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Filed under Direct-to-Consumer Services, General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomics & Society

Will Funding Break Through the Bioinformatics Bottleneck?

bottleneck

Earlier this month, the NIH announced the renewal of a grant program that awards up to $275,000 over two years to academic institutes, small businesses, non-profits and other groups, to support research aimed at developing new ways of managing, manipulating and interpreting genomic and other biological data. But the utility and necessity of such grants is not entirely clear.

To be sure, the biomedical community has recognized a potential for a “bioinformatics bottleneck” as the cost of genome sequencing plummets and the sheer quantity of raw data rises, potentially without a corresponding increase in the capacity to interpret that data. And the NIH’s focus on funding innovative, “high risk/high impact” research projects is certainly welcome. But it is far from clear that a handful of two-year, $275,000 grants will produce the right type of innovation, on the right time-scale, to put a dent in the problem. And perhaps more to the point, it is worth taking a closer look at whether any amount of public funding would address some of the other issues at the root of the impending shortfall in biomedical informatics and computational biology research and development.
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10,000 Free Genome Scans Too Good to be Tru? TruGenetics Announces Fundraising Difficulties

It was just over two months ago that TruGenetics splashed onto the DTC genomics scene with a promise of free genome scans for its first 10,000 participants.

Both here and over at Genetic Future, questions were raised about the TruGenetics business model.  Based on the email that I just received from the company, it appears that TruGenetics’ potential investors had similar concerns:

Dear Registrant,

Thank you for participating in TruGenetics’ pre-registration Beta.

We wanted to inform you that despite our best efforts and contrary to our expectations, our funding sources did not come through and to date, we have been unable to secure funding for launching our genome scanning program. Given the current economic climate, we are also unsure how long the funding process will take.

We understand that some of you may want to seek genome scanning services from other companies. Therefore, we are offering you the option to remove your information from our database. Using your username and password, you can log on to www.trugenetics.com and delete your record from our database at your convenience.

We will continue our fundraising efforts and we will inform you of any progress toward our goal.

Again, we appreciate you pre-registering with TruGenetics.

Sincerely,

TruGenetics Management Team

It’s not a complete capitulation, but it doesn’t sound promising.  At least for the moment, the free genome scans will continue to go to the senior athletes.

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Duke Finds a Second Alzheimer’s Gene—What Does It Mean?

Genetic CodeThe 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.


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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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Informed Consent for Pediatric Biobanking

Child with Magnifying Glass50What rules should govern the participation of children in large-scale genomic biobanking research? That’s the question that David Gurwitz, Isabel Fortier, Jeantine E. Lunshof and Bartha Maria Knoppers tackle in a policy forum piece in the current issue of Science.

The Importance of Open Consent

In considering the use of DNA samples and phenotypic data provided by children to biobanks, Gurwitz et al. argue that the traditional notion of confidentiality or anonymity, at least when it comes to genomic data, is an illusory one:

DNA remains unique as a permanent identifier throughout an individual’s life… As sequencing of entire genomes becomes a routine procedure, DNA donors’ privacy can never be completely ensured within biobanks. Individuals can be traced even in very large aggregate data sets spanning thousands of donors. As a consequence, there is no ‘opting out’ from biobanks once DNA sequences have been published and deposited with public databases.

Along with one of the co-authors of the Science piece (Lunshof), I’ve written previously about the inability to promise privacy in the genomic context (pdf). That premise, coupled with the determination that informed consent requires open and complete disclosure of the risks of participation in genomics research, has served as the basis for of the Personal Genome Project’s (PGP) informed consent protocol (pdf):

If you are enrolled in the PGP, your genetic and trait information will not be maintained or made available in a confidential or anonymous fashion. Your genetic and trait information will be made available via a publicly accessible website and database….


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Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?

ReformAnother player has entered the debate over direct-to-consumer (DTC) genetic testing and come down on the side of greater regulation. In a position statement authored by Barbara Ameer and Norberto Krivoy (pdf), the American College of Clinical Pharmacology (ACCP) proposes greater regulation of laboratory genetic tests generally, DTC advertising of genetic tests, and communication to consumers of genetic test results.

The ACCP’s position paper faults a number of features of the current regime: (i) the FDA does not require premarket review of laboratory-developed tests; (ii) even if conducted in CLIA certified laboratories, the clinical validity of laboratory-developed tests (which includes most DTC genetic testing) is not regulated; (iii) there is no regulatory oversight system for advertising of DTC genetic tests; and (iv) the communication of DTC test results is not mediated through a trained clinician. The ACCP fears that consumers are insufficiently protected in the current unregulated environment, with the result that “at a population level, these collective [negative] experiences may give future genetic testing a poor reputation, and it consequently may not be trusted by consumers.” The ACCP further cautions that the “inequitable regulatory policy regarding laboratory-developed tests [may stifle] innovation in the creation of validated genetic tests.” The position paper does not state, or offer any data suggesting, that any such stigma currently attaches to genetic testing or that innovation is being stifled.


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Regulating Advertising Practices of DTC Genetic Testing Companies?

The Genetics & Public Policy Center (GPPC) has commissioned a 50 state survey of “laws that could potentially be used to protect consumers against unfair or deceptive trade practices by DTC genetic testing companies.”  You can see the full survey here (pdf) or you can jump directly to the conclusion: “The survey reveals that while all states have general consumer protection statutes, none has laws that directly address genetic testing.”

This conclusion comes as no surprise given the reality that, from railroads to the internet to consumer genomics, scientific and technological innovation inevitably outpace the corresponding and often necessary legal and regulatory response.  Odds are that if the GPPC updates its survey eighteen months from now the results will be materially different.

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Whole-Genome Sequencing and Gene Patents Coexist (For Now)

Test Tubes 80In a recent post, John Conley analyzed the ACLU’s lawsuit challenging Myriad Genetics’ patents on the BRCA-1 and BRCA-2 “breast and ovarian cancer susceptibility” genes. Several readers responded with the same general inquiry: if an individual undergoes a whole-genome sequence analysis, will the individual (or the company providing the sequence) be required to pay royalties to Myriad because the BRCA-1 and -2 loci will have been sequenced?

Although focused on the BRCA genes, the question is broadly applicable to the entire genome sequencing industry: when sequencing all or a portion (e.g., the exome) of an individual’s genome, are individual gene patents infringed upon by either the company providing the sequence or the individual purchasing or requesting it? The answer is not entirely clear, but, at least in the case of Myriad and the BRCA genes, it appears to be no. Or at least, not yet.

Let’s begin with what is not patented, which includes a majority of genes and the vast majority of the human genome. Genes—those stretches of DNA that encode for proteins—make up approximately 2% of the human genome. The estimate of the exact number of genes ranges from between roughly 20,000 to 30,000 and, of those, a 2005 study in the journal Science found that only 20% of human gene DNA sequences are patented (subscription). Although those numbers are certainly subject to change, the reality is that, today, it is likely that less than 1% of the entire human genome has been patented.

Of course, that very small number belies the fact that the genes which have been patented consist of some of the most important identified genes associated with the prediction or determination of human health and disease. The high-profile BRCA genes are an excellent example and thus make for a good case study.


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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Policymaking, Genomic Sequencing, Genomics & Medicine, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation