Genetic Testing/Screening
Why the State of Personal Genomics is Not as Dire as You Think
Another Tale of the Struggle of Personal Genomics, Full of Sound and Fury, Signifying…What? After a while, the personal genomics news cycle can begin to feel predictable. Recently, and not for the first time, there have been rumblings that personal genomics pioneer 23andMe is struggling. The most recent “news” appears to be a December SEC filing disclosing a $4 million payment to an unidentified 23andMe executive. Gene Expression and BNET have taken the opportunity to recycle some of the company’s previous financial struggles, including co-founder Linda Avey’s departure and a well-publicized round of fall layoffs, and to speculate broadly about the state of morale at the company in addition to the well-being of the personal genomics industry more generally.
Avey herself, perhaps unintentionally, has fueled speculation that something may be afoot with a pair of recent posts (the original post has now been combined with an update) on her own blog. Avey has launched a preemptive strike against what appears to be an upcoming New York Times piece that will “question[] the viability” of the personal genomics industry and “hits too close to home” for Avey not to comment. (Or, as GenomeWeb headlines it, Linda Avey Versus the New York Times.)
Perhaps all of the smoke signifies a smoldering fire at 23andMe. Then again, it may represent nothing more than periodic reverberations from the social media echo chamber, where common memes are repackaged and recycled at regular intervals.
GLR Update: Australia Tackles Disclosure of Genetic Information without Consent
Last fall, the Genomics Law Report reviewed new medical confidentiality guidance from the U.K. General Medical Council (GMC) and wondered whether the “public interest” was a sufficient justification for the disclosure of patients’ genetic information without their consent.
Since that time, Australia’s National Health and Medical Research Council (NHMRC) has tackled the same issue, publishing new privacy guidelines for health practitioners on the disclosure of genetic information (pdf).
In each case, the basic thrust of the guidance for medical practitioners is the same – there are certain circumstances where a patient’s genetic information may be disclosed against his or her wishes. However, the guidance from the GMC and the NHMRC does differ in several important respects.
First, while the GMC’s guidance applies to all doctors in the United Kingdom, the NHMRC’s guidance is restricted to Australian doctors in private practice. The NHMRC’s guidance also restricts its applicability to the disclosure of genetic information to living genetic relatives for medical purposes. Disclosures relating to unborn children (e.g., information related to embryos or carrier status), to legal but non-genetic relatives (e.g., adopted children or spouses) or for genetic research are all outside of the scope of the NHMRC’s guidelines. The GMC’s guidelines, on the other hand, contain no such specific limitations, referring only to the practitioner’s responsibility to balance the patient’s interests against those of others, and to disclose genetic or other information when justified in the public interest.
Newborn Blood Spot Litigation: 70 Days to Destroy 5+ Million Samples
Sometime in the next few months, Texas will destroy more than 5 million blood samples collected from newborn babies across the state over the past seven years. The lawsuit that led to this result—agreed to as part of a settlement reached between the state and a civil rights group representing a group of parents—illustrates a number of interesting points about the law and litigation of genetics issues.
As we discussed in A Closer Look at Biobanking of Newborn Blood Spots, states collect blood samples from most infants born in the United States each year, with the goal of detecting and treating a variety of potentially serious conditions. The Texas Department of State Health Services (DSHS) has been collecting newborn blood samples from babies born within the state since the 1960s. Texas currently tests for conditions including cystic fibrosis, endocrine disorders, fatty acid disorders, and others—28 disorders in all (pdf). At least some of the samples are apparently subjected to genetic testing for hemoglobinopathy, phenylketonuria, and galactosemia.
Life Technologies Fires Latest Sequencing Salvo
Another week, another drop in the cost of whole-genome sequencing. The latest announcement comes from Life Technologies, which yesterday announced the launch of its SOLiD 4 sequencing system. The details of the announcement are well-covered by GenomeWeb and Matthew Herper of Forbes.com.
In brief, the SOLiD 4 generates 100 gigabases of data per run at a cost of $6,000 per genome, a cost that appears to account solely for the consumables and does not include the cost of the machine or of interpreting all of that sequence data. According to GenomeWeb, Life is also promising an upgrade to its system – SOLiD 4hq – in the second half of 2010 which it expects to triple the data output at half of the cost: 300 megabases per run, $3,000 per sequence.
As for the impact of Life’s SOLiD 4 announcement, Matthew Herper hits the nail on the head:
But although the news is good for Life and will keep it in the game as the price of decoding the genetic code continues to drop, the specs of this new machine don’t seem good enough to upset Illumina’s place as the first choice of geneticists. “It’s a solid improvement, but I don’t think this changes the game,” says Isaac Ro, an analyst at Leerink Swan who follows both companies.
Meet the New deCODE, Same as the Old deCODE?
When deCODE genetics declared bankruptcy last fall it made a big splash. Geneticists pondered the future of the Icelandic biotechnology company’s one-of-a-kind genetic database and research platform, while investors and creditors wondered if they were going to be left out in the cold.
The initial bankruptcy buzz gave way over the past several months to a steady but relatively unremarkable stream of filings in the United States Bankruptcy Court for the District of Delaware (the case is No. 09-14063). Last week, however, brought a noteworthy docket entry, with the bankruptcy court approving the sale of most of deCODE genetics Inc.’s assets to Saga Investments LLC (pdf) – an investment company whose owners include Polaris Venture Partners, ARCH Venture Partners and genomic sequencing giant (and DTC genomics dabbler) Illumina.
A Holiday Fire-Sale? The sale, as approved by the bankruptcy court, sends substantially all of deCODE genetics Inc.’s assets – including its valuable genetic research engine that is driven in part by its access to its large Icelandic population database – to Saga Investments. As we described back in November, the bankruptcy sale process required a Stalking Horse bidder (Saga Investments) and a sale and auction process that, at least in theory, allowed other interested parties a chance to step in and make a bid for deCODE’s assets. No other bidders came forward, and the sale to Saga Investments was approved in just under two months.
Personal Genomics: A Participatory Activity
Last week the GLR covered deCODEme’s announcement that it was offering existing customers of its main competitor, 23andMe, the opportunity to have their genomic data interpreted by deCODEme’s own service. For free.
Although somewhat surprising from a short-term commercial perspective, I generally liked the move by deCODE as a means to improve the company’s genomic data interpretation abilities. Here’s what I wrote at the time:
If interpretation proves to be one of the key differentiators between DTC genomics companies, as expected, deCODE (and other companies) should embrace opportunities to hone their interpretative platforms now, while the DTC commercial market remains relatively small.
As both Peter Aldhous of New Scientist and Daniel MacArthur of Genetic Future have pointed out, it appears that there is some honing to be done on deCODEme’s end. From ancestry confusion to interpretative errors in evaluating Alzheimer’s risk, deCODEme’s first attempt at genomic data migration has been an imperfect one. Would deCODEme have preferred a seamless launch to their 23andMe data migration service? Of course. But if the experiment now pays off in smoother data migration and interpretation for the company in 2010 and beyond, these first bumps in the road will soon be forgotten.
Is deCODEme Taking a Page from the 23andMe Playbook?
Daniel MacArthur of Genetic Future provides coverage of the decision by direct-to-consumer (DTC) genomics service provider deCODEme to offer existing 23andMe customers the ability to upload their raw 23andMe data to the deCODEme service. For free.
MacArthur correctly notes that the value of the genome scans provided by companies such as 23andMe and deCODEme lies not in the actual creation of raw genetic data but in the interpretation of that data, and wonders why deCODEme has decided to give that away for free. Here’s MacArthur’s take:
So, why the free offer? I’m guessing deCODEme is gambling (quite reasonably) that offering free uploads will attract a non-trivial number of 23andMe customers over to deCODEme’s interface. That then provides the Icelanders with an opportunity to give people a fair trial of their own interface, and hopefully to impress them with the quality and accessibility of the data provided.
That seems reasonable, and many 23andMe customers are likely already familiar with porting their raw genetic data to other interpretive tools – Promethease, for example – so perhaps this puts deCODE in front of a group of individuals who would not otherwise be in the market for a duplicative genome scan. (23andMe appears unconcerned by the prospect of a side-by-side comparison of its service with that of deCODEme.)
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Reproductive Genetic Screening: More Questions Than Answers
The Genomics Law Report has published a couple of guest commentaries recently dealing with genetic screening—a topic our own Adam Doerr also addressed in two posts this summer dealing with “wrongful life” claims brought against sperm banks by children with genetic diseases inherited from their donor fathers. Such claims are premised on the failure of the sperm bank to conduct genetic screening that could have detected the defective genes—thereby avoiding the conception of the child on whose behalf the wrongful life claim is brought.
In this post, I look at a recent gamete screening controversy—the revelation that a man fathered at least two dozen children, all but two through the donation of his sperm to a bank, despite having a potentially serious genetic defect—and examine numerous issues the story raises. Many relate to whose interests are valued the highest. Should the wellbeing of the children born of the process—the only people involved who have no say in the matter—come first, or does respect for the autonomy of the parents control? I do not attempt to answer the questions posed, but seek to encourage discussion with respect to the need for clearer policies and guidance in a number of these areas.
What ELSI was New? Plenty.
From October 5 to December 8, 2009, the Genomics Law Report featured a series of thirty-six guest commentaries by industry, academic and thought leaders in the fields of genomics and personalized medicine. Entitled What ELSI is New?, the series, which we have organized into an e-book (pdf), asked each contributor to briefly respond to the following question: “What do you believe is the most important ethical, legal or social issue (ELSI) that must be addressed by the fields of genomics and/or personalized medicine?”
For better or worse, that’s where the instructions ended. The invited contributors identified the ELSI of their choice and discussed (or not) their rationale for so selecting as they saw fit. In addition to refraining from substantive editing, we intentionally avoided coordinating commentaries. Although we encouraged independent submissions from a variety of contributors and deprived them of any advance knowledge of what others in the series would say, one of our hopes was that consensus would begin to form around certain key ethical, legal and social issues.
To some degree this occurred. In collecting the series for the convenience of readers who would like to have all of the contributions in one place (pdf), we have ultimately settled on six broad topic headings for the commentaries
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GINA: Coming Soon to a Workplace Poster Near You
As we reminded you last week, Title II of the Genetic Information Nondiscrimination Act (GINA) took effect on November 21st. Title II prohibits genetic discrimination and restricts the collection of genetic information by all private, state, and local government employers with more than fifteen employees. (Title I prohibits health insurers and group plans from using genetic information to deny coverage or set payment rates.)
For all the attention that GINA has achieved, many Americans will soon learn of its existence for the first time in break rooms and at water coolers across the country, courtesy of the Equal Employment Opportunity Commission’s (EEOC) new workplace poster (pdf). The poster is required to be displayed by all employers covered by federal anti-discrimination laws.
