VentureBeat

Unfortunately, in vitro fertilization is an expensive and error-prone way for infertile couples to have kids.

Now Gene Security Network, a Portola Valley, Calif., company, claims to have greatly expanded the range and accuracy of embryonic genetic testing — and presumably the odds of having a healthy baby.

It’s one of the first investments we’ve seen from Marissa Mayer, VP in charge of Health and other search products at Google. Sequoia has also invested. See the full story at VentureBeat Life Sciences.

(UPDATED: See below.)

Many infertile couples undergoing in-vitro fertilization rely on genetic screening of their fertilized embryos to improve their chances of delivering a healthy baby. But that technique, known as preimplantation genetic screening, has recently taken some hits on the scientific level, with one recent study finding that it not only fails to improve fertility rates, but may actually worsen the odds for older women. (See this WSJ story for details.)

For one thing, the procedure itself, in which a single cell is removed from a three-day-old embryo for testing, may actually damage the embryo. Other problems may result if the DNA from that cell can’t be fully “amplified” (that is, duplicated a number of times) in order to yield enough genetic material for testing. And some scientists question whether testing for abnormal numbers of chromosomes — a condition known as aneuploidy — really yields benefits for anyone but women who have suffered multiple miscarriages.

In any event, there seems little doubt that many couples would welcome any development that improves the accuracy and efficacy of preimplanation screening. Which, it turns out, is exactly what Gene Security Network, a Portola Valley, Calif., biotech, hopes to offer soon — even though it only appears to address some of those concerns.

GSN says it has developed a technique that allows for highly accurate testing for both aneuploidy and a number of genetic diseases such as muscular dystrophy and cystic fibrosis using DNA from a single cell. The company hasn’t explained its technology in detail, but says it relies on “advanced informatics” and existing gene maps such as that developed by the Human Genome Project to “reconstruct” embryonic DNA with high accuracy.

Following a brief conversation with Ted Driscoll, a VC at GSN backer Claremont Creek Ventures, I have a better — although still far from complete — understanding of what the company is up to. Essentially, GSN starts with genetic samples from both parents, which it can scan for the individual single-letter DNA variations associated with particular genetic diseases. Using that background information, the company can make highly educated guesses about which stretch of DNA in the embryo came from which parent, allowing GSN to “reconstruct” DNA that goes missing in the course of single-cell analysis. In turn, that makes it possible to figure out, for instance, whether the embryo has inherited two copies of a dangerous gene that could cause a disease like cystic fibrosis.

GSN says its technology will begin rolling out in IVF clinics next year. The company just raised $4M in a first funding round, which it says will allow it to commercialize its techniques. Investors in the round include Claremont Creek Ventures, Sequoia Capital, the Huntington Reproductive Center, and Marissa Mayer, a Google vice president in charge of Google Health and other search products.

UPDATED: Expanded the description of GSN’s technology based upon further reporting.

House-Senate confrontation set over biogenerics – Late last month, a key group of senators reached agreement on legislative provisions that would authorize copycat versions of biotech drugs, which are typically complex proteins manufactured by genetically engineered cells (see details here and here). These provisions would finally put biotech drugs — which don’t face cut-rate competition once their key patents expire — on a par with traditional pharmaceuticals, and have been a long time in coming. They’re not perfect, but they’re about as good a compromise as we’re likely to see any time soon..

The catch is that biogenerics supporters want to attach this langauge to a reauthorization of the FDA’s user-fees act, the awkwardly named PDUFA, which has to pass by September to keep the FDA operating smoothly. The Senate’s version passed in May, whereas the House just approved its version yesterday — but didn’t include a biogenerics pathway. The senators want to add it to their version of the bill, which has to be reconciled with the House version in a conference committee. But key House members, including Energy and Commerce Chairman John Dingell, a Michigan Democrat, appear likely to object, since they haven’t had a chance to weigh in on the provision.

The upshot: Turf wars between the houses of Congress may cost us our best shot at biogenerics legislation in some time. Tying the measure to PDUFA would be one of the best ways to sidestep legislative roadblocks that opponents and their biotech/pharma backers are likely to throw up — but the window is closing rapidly. The WSJ has more here.

Digital medical records are good for your health — or are they? One of the strongest arguements for digitizing medical records is that they’ll help prevent medical errors and improve medical care. A recent review of other studies in the journal Health Services Research gave digitized records a strong vote of confidence when it found that hospitals that switched to electronic drug-ordering systems saw a 66 percent drop in medication errors. (Such mistakes apparently kill 500,000 U.S. hospital patients every year.) Similarly, a report from the Pharmaceutical Care Management Association predicts that electronic prescribing could save Medicare as much as $29 billion over the next two years while preventing two million medication errors.

As with any technology, however, electronic records are no panacea. Another study of walk-in doctor visits found no improvement in treatment quality among practices that used electronic medical records versus those that still relied on paper. The study’s conclusion: Implementing digitized records is just the first step — doctors and medical groups still need to do a lot of work to get the most out of them.

On a related note, a Senate committee recently passed legislation that would offer subsidies to convince doctors to install digital health-record systems.

RNAi is hot, hot, HOT — Once again, it’s boom times for a new drug technology, and this time the spotlight is on RNA interference — a fascinating but largely unproven method for turning off individual genes by using a short stretch of double-stranded RNA to activate ancient gene-silencing machinery inside cells.

The party really got started last year, when Merck paid $1.1 billion to acquire Sirna Therapeutics, a fledgling RNAi company that had barely managed to move a single drug into an early-stage trial. Now things have heated up even further. Last Friday, AstraZeneca struck a $400 million deal with Silence Therapeutics. Then on Tuesday, Roche stepped up to forge a $1 billion deal with Alnylam, an early pioneer in the area.

What’s worth remembering is that no matter how promising a technology like RNAi seems, putting it to practical use almost always takes far longer and costs more than people expect in the early stages. Just take a look at the roll call of other drug technologies that have undergone similar cycles of hype and disappointment — gene therapy, antisense, therapeutic vaccines. All remain promising — but none of them worked the first time out of the gate. Even monoclonal antibodies took close to two decades before anyone could make a reasonable drug with them. Maybe RNAi will be different — but I wouldn’t bet my wallet on it.

Have cancer vaccines gotten a raw deal? A paper in Clinical Cancer Research (described here) argues that regulators and companies may be too quick to dismiss clinical-trial results if they focus on tumor shrinkage rather than long-term outcomes like survival. That may well be true, as tumor shrinkage is a notoriously bad measure of whether drugs work or not, although it’s also worth noting that a reconsideration still wouldn’t have helped Dendreon’s Provenge vaccine, since its survival data was so statistically equivocal. (Separately, the SEC has now opened an informal inquiry into Dendreon’s public disclosures about Provenge this year.)

DNA transplant “transforms” microbial species – J. Craig Venter’s group at his eponymous institute takes the honors, described here in the WaPo. Next up: Transferring an entirely synthetic genome into a DNA-less microbe to create “artificial life,” something Venter says may happen within months. Similarly, here’s the NYT on the new science of “synthetic biology.” Brace yourselves.

Does “pay for performance” improve medical care? A few weeks ago, the WSJ said no, citing a Medicare experiment. Today, the NYT says yes, citing… a Medicare experiment! I’ll have more to say once my head stops hurting.

Pre-implantation genetic diagnosis may harm fertility – Or so say the authors of a Dutch study described by the WSJ here. Several researchers seem to think the results need to be verified elsewhere before abandoning the procedure, in which a single cell is extracted from an IVF embryo for genetic analysis.

Stem cells tailor their own environments — At least according to Canadian researchers, who explored the specifics of how embryonic stem cells communicate with the cells around them. The Globe and Mail has the story.

Simple enzyme short-circuits bacterial drug resistance – Basically, it prevents bacteria from swapping the genes that confer resistance to antibiotics.

High-throughput output –

• Vermont sets up a Web site comparing pharmacy drug prices (Kaiser)
• Researchers discover molecule that may promote food allergies (BBC)
• Breast-cancer risk genes may not influence survival (WSJ)
• Congressional Democrats want to know who muzzled the former surgeon general (Bloomberg)
• Scientists identify gene linked to autism (BBC)
• Robotics help stroke patients regain function (NYT)

(NOTE: This item originally incorrectly stated that J. Craig Venter’s company, Synthetic Genomics, was involved in the research that transplanted one microbe’s genome into another. In fact, it was Venter’s own research institute, the J. Craig Venter Institute.)