NCI’s New BRCA1 Test: Broader Utility and Another Challenge to Traditional Genetic Tests

switchContributed by Allison Williams Dobson of the Center for Genomics and Society at the University of North Carolina at Chapel Hill.

As reported last week by GenomeWeb, on September 21, 2009, a team led by Shyam Sharan from the National Cancer Institute (NCI) published the development of a new BRCA1 test based on mouse embryonic stem cells. Potentially, the test could prove useful for a much broader range of patients than the controversial Myriad Genetics BRCA1 tests.

The NCI approach focuses more on protein production than DNA analysis. The BRCA1 gene serves as the blueprint for an important tumor suppressor protein. If BRCA1 protein is not produced in sufficient quality and/or quantity, a propensity to develop cancer in the breast tissue often results. The traditional genetic testing approach asks whether a subject carries any of the BRCA1 gene variants that have been associated with increased risk for breast cancer in studies of afflicted families. NCI’s approach asks a significantly different question—rather than focusing on an identified set of “bad” gene variants, NCI asks whether a subject carries BRCA1 variants that serve as adequate blueprints for a functional protein, whether those variants have been previously identified or not. It does this by testing the protein product of the gene.

Until now, women with a family history of breast cancer have been most likely to seek a BRCA genetic test and represent the principal source of BRCA genetic data. Thus Myriad’s patented tests are based on a set of culprit BRCA gene variants found by studying primarily families with a strong propensity toward breast cancer, despite the fact that only 5-7 % of breast cancers are familial. As a result, the Myriad tests only offer useful information about a subset of BRCA1 variants. But many people (both with and without family history) carry other BRCA1 variants of unknown significance (VUS). There just are not enough empirical data yet to support conclusions about the risk associated with VUS.

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Filed under Bioinformatics/IT, Genetic Testing/Screening, Genomic Policymaking, Genomic Sequencing, Genomics & Medicine, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation, Pending Regulation

Why the Errors of the Human Provenance Project Will Echo Beyond the U.K.’s Borders

barbed wireScienceInsider has posted several pieces this morning describing and critiquing the U.K. Border Agency’s Human Provenance pilot project:

Scientists are greeting with surprise and dismay a project to use DNA and isotope analysis of tissue from asylum seekers to evaluate their nationality and help decide who can enter the United Kingdom. “Horrifying,” “naïve,” and “flawed” are among the adjectives geneticists and isotope specialists have used to describe the “Human Provenance pilot project,” launched quietly in mid-September by the U.K. Border Agency. Their consensus: The project is not scientifically valid—or even sensible.

In addition to the feature article, ScienceInsider has also published a FAQ describing what is now known about the program as well as links to the underlying documents and expanded reactions from leading geneticists and isotope specialists.

The project is, as the name indicates, a pilot project, and one spokesperson described it as being “in its baby stages.” Still, as reported by ScienceInsider, the scientific community’s reaction to the program appears to be swift, unanimous and extraordinarily critical. Daniel MacArthur of Genetic Future has a slightly more measured take, expressing skepticism about the ability of the government agency to identify precisely an individual’s geographic ancestry based on genomic data and rightly pointing out that the “crucial issue is that it must be shown that the data are used in appropriate ways, and not given undue weight in making serious decisions about a person’s future.” That’s an issue that cannot be resolved until the Border Agency provides additional details on both its scientific methods and its utilization of the collected DNA and isotope data.

The near-uniform scientific skepticism that has greeted the announcement of the Human Provenance project suggests that we should not be surprised to see the pilot project substantially revised, or even scrapped altogether. But has damage already been done?

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Filed under Genetic Testing/Screening, Genomic Policymaking, Genomics & Society, International Developments, International News

David Clark Moves to Deerfield

David Clark has been a partner and good friend at Robinson, Bradshaw & Hinson, and he was instrumental in launching the Genomics Law Report. David is moving on, becoming a partner at Deerfield Management Company in New York. He plans to continue to contribute to the Genomics Law Report from time to time, and we wish him the best in his new position.

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Filed under General Interest

Prometheus and Medical Methods Patents

On September 16 the Federal Circuit decided a patent case called Prometheus Laboratories Inc. v. Mayo Collaborative Services (pdf). Prometheus sued Mayo for infringing two patents on a method of optimizing drug therapy for autoimmune diseases. The question in the case was whether the method met the patentable subject matter standard of section 101 of the Patent Act, as interpreted in the Federal Circuit’s 2008 In re Bilski decision (pdf) (which is now before the Supreme Court). The patentable subject matter standard is an initial threshold that must be crossed on the way to patentability. To satisfy the standard, the claimed invention must be within the broad categories of things (machines, manufactures, compositions of matter, or processes/methods) that the Patent Act permits to be patented. If not, the inquiry ends; if so, the invention must still be shown to be novel, useful, and nonobvious. This is the standard that the ACLU has focused on in its motion for summary judgment in the Myriad Genetics case, which we have been following closely.

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Filed under Genetic Testing/Screening, Genomics & Medicine, Legal & Regulatory, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation, Uncategorized

The “Wrongful Life” Debate

footprintsAs briefly mentioned in a prior post and discussed in a Connecticut opinion released last Friday, courts continue struggling to apply standard negligence principles in the context of genetic science, especially in the area of “wrongful life.” In a typical wrongful life case, a physician or geneticist fails to diagnose a severe genetic problem in a fetus. The problem is typically so severe that the parents allege that they would have terminated the pregnancy if they had known of the problem. When the child—or a parent acting on the child’s behalf—brings a claim in court alleging that the physician or geneticist was negligent in failing to diagnose the problem, it is referred to as a “wrongful life” claim.

In tort law, damages are generally compensatory in nature—they are awarded with the goal of returning the injured party to the position he or she held before the injury occurred. In a slip and fall case, for example, a successful plaintiff would recover damages calculated to compensate for medical expenses and income lost as a result of the injury. In the context of a wrongful life claim, however, compensatory damages raise logical problems. The basic claim is that the physician or geneticist made a mistake. Had the mistake not been made, the plaintiff asserts, his or her parents would have terminated a pregnancy.

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Filed under Genomic Policymaking, Genomics & Medicine, Genomics & Society, Legal & Regulatory, Pending Litigation, Pending Regulation

What Happens if a DTC Genomics Company Goes Belly Up?

The following post was originally published in three parts on September 14, 15 and 16 in Genetic Future.

BankruptcyDirect-to-consumer (DTC) genomics companies are not immune to the current recession. When TruGenetics, a new player in the DTC genomics space, announced in June that it would be handing out 10,000 free genome scans, both Genetic Future and the Genomics Law Report raised questions about the financial viability of its business model, particularly in the current economic climate. Sure enough, on August 21, TruGenetics announced that it had been unable to secure funding sufficient to support its business model as contemplated. Frequent readers know that TruGenetics is not the only DTC genomics company that is struggling. The financial struggles of deCODE Genetics have been well chronicled (see here, here and here) and even new market leader 23andMe has undergone a dramatic shift in its top management as it pursues a new round of financing.

Ultimately, it was a recent headline here at Genetic Future—“deCODE Genetics on the brink of insolvency”—that started us thinking: what would happen if an established DTC genomics company actually went bankrupt? More specifically, what would happen to the genomic (and other) data held by the company? Genomic data is likely to be the company’s most valuable asset. Can that data be sold off to help meet the company’s debts? Bankruptcy can be a confusing and arcane process, with real risks and uncertainties for companies, their creditors and their customers.

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Filed under Direct-to-Consumer Services, Genomics & Society, Legal & Regulatory, Patents & IP, Privacy, Uncategorized

23andMe to Offer Discounts to Docs, But at What Cost?

fence (small)Mark Henderson of the Times of London recently sat down to talk with Anne Wojcicki, now the sole remaining co-founder of DTC genomics company 23andMe, to discuss the company’s future plans. As Mark wrote in yesterday’s paper, Wojcicki and 23andMe are undertaking what appears to be a new strategy for the company, encouraging “doctors to take [23andMe’s] tests themselves so they are better placed to help patients who take it and then approach them for advice.” The Times and Wojcicki continue:

We want to help [doctors] to make sense of this, we want them to help consumers,” she said. “If you come in with results that tell you your risk of type 2 diabetes is marginally higher than average, how much do you need to worry about that?

Over at Genetic Future, Daniel MacArthur has the first reaction to this new development. Although MacArthur focuses primarily on the difficulty of using DTC genomic services—even at cut rate prices—to improve genomic literacy among overworked clinicians, a valid point, he also notes in passing that the announcement by Wojcicki and 23andMe represents “a subtle shift in…tone from the ‘we’re not doing medicine’ tone that has long characterised 23andMe’s attitude.” Whatever the business justifications for encouraging medical professionals to familiarize themselves with 23andMe’s services, the “subtle shift in tone” that MacArthur correctly identifies is what I consider to be the truly significant piece of news in Wojcicki and 23andMe’s announcement.

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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Policymaking, Genomics & Medicine

What Happens When a Personal Genomics Company Goes Bankrupt

The first and second installments of a three-part series of guest posts by GLR contributors Daniel Vorhaus and Lawrence Moore are up today at Daniel MacArthur’s excellent Genetic Future blog. In this series, we consider what would happen to all of the personal information provided by customers of a personal genomics company if the company went bankrupt. In part one of the series, posted yesterday, we considered the legal relationship between consumer and company and reviewed the privacy policies of TruGenetics and 23andMe. In part two, we get into the legal issues governing the consumer information under the bankruptcy laws. Tomorrow, in the final post in the series, we discuss what all this means for consumers of personal genomics companies.

Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Legal & Regulatory, Privacy

ACLU Moves for Summary Judgment in Myriad Patent Case

In prior posts we’ve described the ACLU’s lawsuit challenging Myriad Genetic’s patents on BRCA1 and 2, the breast cancer susceptibility genes, and responded to readers’ questions about the effect of those patents on research. In the latest development in the case, the ACLU has filed a motion for summary judgment (the motion was filed on August 26, 2009, and the ACLU’s supporting brief can be found here (pdf).)

Summary judgment, as the term suggests, is a device whereby the judge decides the case before it ever gets to trial. The party asking for summary judgment must persuade the court that the facts are undisputed and the controlling law is unambiguous, so there is no need for a trial. As the standard is sometimes stated, it is clear at the time of the motion that no reasonable jury could find for the other side. Summary judgment, while fairly rare, is most often granted after extensive discovery (sworn deposition testimony and document production), when the parties can make an accurate forecast of what evidence would come out at trial.

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Filed under Badges, Bioinformatics/IT, Genomic Policymaking, Industry News, Legal & Regulatory, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation

CSHL and a Brief Survey on Genetic Testing for Psychiatric Diseases

As many readers are probably aware, Cold Spring Harbor Laboratory is presenting its second meeting on Personal Genomes next week. Freelance science writer and blogger Ginny Hughes will be speaking about the science and attitudes of genetic testing for psychiatric diseases. She’s prepared a very short survey on the topic so please help her out with a minute of your time.

Filed under General Interest, Genetic Testing/Screening