A Googol of Genomes?

Earlier this week we took a look back at 2010 and offered our projections for the coming year in personal genomics. Topic #1, just as it was last year: the $1,000 genome.

In hindsight, it might have been ill-advised to offer predictions about the near-term future of genome sequencing during the same week in which one of the year’s major industry conferences (the JP Morgan annual Healthcare Conference) is taking place.

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Filed under General Interest, Genomic Sequencing, Genomics & Society, Industry News

2011 Personal Genomics Preview: It’s Déjà Vu…

Last January we kicked off the new year by posing “Five Questions for Personal Genomics in 2010.” Here were the five questions we asked:

1. Will the $1,000 genome live up to the hype?

2. Will personal genomics stay DTC?

3. How will the ongoing gene patent debate affect the progress of personalized medicine?

4. When and where will the next regulatory shoe fall?

5. Who will control the data?

A year later the question that comes first to mind is, has anything really changed?

The short answer is no, not fundamentally, although that is not meant to imply that nothing of note happened in 2010. Far from it, as significant legal, regulatory, policy and technological developments continued to reshape the personal genomics landscape.

With that in mind, we welcome 2011 with a look back at the year that was, and a look ahead at what to expect from 2011 and beyond.

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Filed under Bioinformatics/IT, Direct-to-Consumer Services, FDA LDT Regulation, General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomic Sequencing, Genomics & Medicine, Genomics & Society, GINA, Industry News, International Developments, Legal & Regulatory, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation, Pending Regulation

A Thanksgiving Tradition: 23andMe Repackages Product, Raises Prices

Last November, just before Thanksgiving, 23andMe, the most popular provider of direct-to-consumer (DTC) genetic testing products, announced a new product and pricing model. The company took its most popular product—a $399 all-in-one genotyping service—and split it into two separate products, an “Ancestry Edition” and a “Health Edition.” It also raised prices, with the complete package jumping from $399 to $499.

This November, just before Thanskgiving, 23andMe announced it was undoing most of last November’s changes, eliminating the separate ancestry and health editions and offering, once again, a single product. Not reversed: the price increase.

A Rationale for Raising Prices. The combined product remains priced at $499, although it now requires a 1 year subscription to 23andMe’s (previously optional) Personal Genome Service (PGS). The PGS, which debuted in September, provides customers with access to regular scientific updates and product features for $5 per month. The changes make the effective list price for 23andMe’s service $559, although the company has run frequent $99 sales, and there are rumors that another one is imminent.

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

Twitter Roundup: Personalized Medicine Conference Edition

With so many developments at the intersection of genomics and the law, there are often a variety of interesting stories that, for one reason or another, don’t find their way into a full-length posting on the Genomics Law Report. In addition to the regular @genomicslawyer Twitter recap, this week I was also tweeting from the 6th annual Partners Healthcare conference on Personalized Medicine. So this version of the Twitter Roundup comes in two sections: tweets from the Partners conference, as well as a brief recap, followed by the regular Twitter roundup.

Part I: Personalized Medicine Conference. Much like last year’s conference, which I also attended and tweeted, the dominant theme voiced by both speakers and attendees was the need to overhaul the personalized medicine reimbursement model. From increasing up-front R&D costs to slowing patient and participant uptake, both of which depress investor interest, almost everybody agreed that reimbursement for personalized medicine products – and advanced diagnostics in particular – needs work.

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Filed under General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomic Sequencing, Industry News, Legal & Regulatory, Patents & IP, Pending Litigation, Pending Regulation

Next-Gen Sequencing Update: Sequencing for Thousands, Suing for Millions

It is shaping up to be an eventful fourth quarter for genomic sequencing companies. Investors welcomed sequencing newcomer Pacific Biosciences (PacBio) to the public stage with a strong initial public offering (IPO). According to The Wall Street Journal, the company managed “the first U.S. life-sciences [IPO] this year to price well and trade higher” (although the stock has since traded down somewhat). Up next: another next-gen sequencing IPO with Complete Genomics (CGI) expected to follow PacBio into the public market as early as tomorrow.1

The past few weeks have also seen strong third quarter earnings reports from market leaders Illumina (earnings recap) and Life Technologies (earnings recap), with both companies touting double-digit growth in their next-generation sequencing businesses. Illumina and Life Technologies (Life) are also hard at work on their next generation of products which are intended to compete more directly with the offerings from PacBio and CGI (Oxford Nanopore for Illumina, Ion Torrent and Starlight for Life). Meanwhile, China’s own sequencing entrant, BGI, continues to buy up sequencers (first from Illumina, more recently from Life), and what will soon become the world’s largest provider of genomic sequencing has its own ambitious plans.

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Filed under General Interest, Genomic Sequencing, Industry News, Legal & Regulatory, Patents & IP, Pending Litigation

A Do-It-Yourself Genomic Challenge to Myriad, the FDA and the Future of Genetic Tests

Over the weekend, Steven L. Salzberg and Mihaela Pertea published a short but significant article in the journal Genome Biology. In “Do-it-yourself genetic testing,” Salzberg and Pertea describe the creation of “a computational screen that tests an individual’s genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.”

The software-based test can be downloaded from the website of the University of Maryland’s Center for Bioinformatics & Computational Biology, where Salzberg is the director and Pertea is on the faculty. The test purports to test genomic sequence data against a set of known mutations in the BRCA genes. In addition to representing a conceptual alternative for those seeking to evaluate their risk of hereditary breast cancer, the so-called “Salzberg Screen” is also a direct challenge to Myriad Genetics, the FDA and the existing legal, regulatory and policy regimes that continue to struggle to keep pace with the science and technology of genomics and personalized medicine.

Below, we examine how the Salzberg Screen fits—or does not—within the current legal and regulatory landscape, as well as what it signals for the future of do-it-yourself genomics, whole-genome sequencing and the law.

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Filed under Bioinformatics/IT, Direct-to-Consumer Services, FDA LDT Regulation, General Interest, Genetic Testing/Screening, Genomic Policymaking, Genomic Sequencing, Genomics & Society, Industry News, Legal & Regulatory, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation, Pending Regulation

GLR Update: In The Battle for Sequencing Supremacy, is 128 > $10,000?

hiseq_2000_The biggest industry developments last week were being announced at J.P. Morgan’s 28th Annual Healthcare Conference in San Francisco. The Genomics Law Report covered Illumina’s announcement of its new next-generation genomic sequencing machine (Another Stop on the Road to the $1,000 Genome), the HiSeq 2000, which promises to sequence an entire genome in one week for $10,000. Illumina’s $10,000 price point represents a new commercial sequencing benchmark, but it is unlikely to deter the company’s competitors. Those include sequencing-as-a-service provider Complete Genomics, which followed up Illumina’s announcement with one of its own, declaring that it plans to sequence up to one million human genomes worldwide over the next five years.

I’ve discussed previously the importance of analyzing just what you get when you purchase a whole-genome sequence. Illumina’s $10,000 genome does not include the cost of the machine or the necessary data analysis, whereas Complete Genomics offers human genome sequences starting at $20,000 while providing its own hardware and data analysis. However, as Matthew Herper of Forbes pointed out last week, the real number to pay attention to in Illumina’s announcement may have been 128—the number of new Illumina machines that BGI committed to buy—and not $10,000. As this recent survey of research labs by In Sequence suggests, current or so-called “second-generation” sequencing platforms, including the one utilized by the HiSeq 2000, continue to make inroads into sequencing centers worldwide, posing an obstacle to Complete Genomics and other newcomers attempting to crack the genomic sequencing space that might not be overcome on price alone.

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Filed under Bioinformatics/IT, Genomic Sequencing, Industry News

Five Questions for Personal Genomics in 2010

Personal Genomics in 2010Death, taxes and January prediction columns: these things are inevitable. So what? A new year offers a convenient—if arbitrary—time to review the year that was and contemplate what lies ahead. Without further ado, here are five of the questions the Genomics Law Report is asking as we kick off 2010.

1. Will the $1,000 genome live up to the hype? Affordable whole-genome sequencing is coming, possibly as early as this year depending on whom you ask. But when the day inevitably arrives, after the media frenzy has subsided, will the $1,000 genome prove anti-climactic?

Whole-genome sequencing is a means to an end and not an end in itself. The understandable excitement surrounding Complete Genomics’ November announcement that it had sequenced three genomes for an average cost of $4,400 often neglected to focus on what the price tag did not cover: the substantial costs associated with interpreting the genomic data.

For genomics researchers, the falling cost of whole-genome sequencing is a continuing cause for celebration, enabling increasingly ambitious research projects. But the success of personal genomics, which is what really matters to consumers, patients and healthcare providers, requires more than inexpensive genomic data. The real breakthrough in personal genomics will come when we can offer individuals affordable access to their whole-genome sequence as well as to the genomic tools and knowledgebase necessary for those individuals to put that data to use.

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Filed under Direct-to-Consumer Services, General Interest, Genomic Policymaking, Genomic Sequencing, Genomics & Society, GINA, Legal & Regulatory, Myriad Gene Patent Litigation, Patents & IP, Pending Litigation, Pending Regulation

Personal Genomics: A Participatory Activity

DNA ribbonLast 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.

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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Sequencing, Genomics & Society

A Fundamental Right to Genetic Information (Now More Expensive Than Before)

Fundamental RightsThis is the second of four related posts analyzing 23andMe’s decision to separate its health and ancestry DTC genetic testing services. For more please see 23andMe’s New Game Plan: What it Means for the Company and for DTC Genetic Testing, The Open Secret of DTC Medical Genetic Testing and DTC Genomic Research: Revolution or Minor Uprising?

An Unexpected Increase in Price. In considering 23andMe’s new model from the consumer perspective, the most surprising development is that the announcement comes with a price increase. With the steady drumbeat of stories heralding the approach of the $1,000 genome, and the consumer expectation that prices for established technologies are meant to fall, not rise, the price hike was unexpected.
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Filed under Biobanking, Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Policymaking, Industry News