Okay so maybe it’s not so new since the book’s been out for several months…Anyway, my review of Masha Gessen’s Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene, appears in the current issue of Nature Genetics:

Throughout this remarkable hybrid of a book—part memoir, part science journalism, part narrative nonfiction—Gessen demonstrates both her independence and her willingness to tweak dogma, whether it comes from guilt-ridden postmodernists or didactic medical professionals. Her sometimes conflicting goals are to discover what is possible for herself as a breast cancer ‘previvor’ and to quench her reporter’s compulsion to document and understand the genetic landscape as it shifts beneath her feet.

That was lots of fun.

I think I’ll go and get some nice paper cuts now; maybe pour some lemon in them….

From GINA at The Library of Congress:

Prohibits a group health plan from requesting or requiring an individual or family member of an individual from undergoing a genetic test. Provides that such prohibition does not: (1) limit the authority of a health care professional to request an individual to undergo a genetic test; or (2) preclude a group health plan from obtaining or using the results of a genetic test in making a determination regarding payment. Requires the plan to request only the minimum amount of information necessary to accomplish the intended purpose.

So, according to this:

1. Health plans can require the results of a genetic test to make a decision regarding payment.
2. Assuming having one’s genome available to make medical decisions makes health care more effective and efficient, premiums cannot be adjusted to account for the savings.

Um, isn’t this is the worst for both effective health care and patient fairness? Doesn’t this mean that health plans can simply demand any genetic test when deciding payment (and hold that decision hostage to get that test… and what if a decision is urgent)? Doesn’t this mean that health care will be institutionally less effective because rather than instituting a single, preventive genomic test to be consulted to make better medical decisions for one’s entire life(which GINA makes illegal), instead, patients will only get ad-hoc and myopic genomic tests as demanded by health plans for payment decisions? Won’t this make health care less effective while creating a new market for inefficient, interventionist specialty genomic tests?

So, what happens when a project like the Coriell Personal Medicine Collaborative shows that using genomic personalized health care makes health care better and cheaper?

I’m embarrassed that I relied on the hype surrounding GINA and didn’t read the law to form my own opinions.

Further, if I’m right about this (I want to consult a lawyer),  I’d be deeply embarrassed for the journalists and industry representatives who should have noted this rather than publishing fluffy, feel-good fed PR. Hypothetically. I’m going to get a legal opinion before I start stomping around, naming names, and posting links!

At least lately, I don’t know how fast we were innovating in the stone age.

In any case, what I wanted to go with this is to this page that describes a study of Neanderthal and Homo sapience tools and conclude that they were equally efficient.

Does this mean that Neanderthals were as smart as us?  I guess it doesn’t necessarily, but at least they were as technically advanced.

How did we outcompete them, exactly, and why are they gone?

“To use the Coriell service you have to actually walk in the door. If you’re not in the neighbourhood then it may be easier and cheaper to use 23andMe.”

Right, but that’s because Coriell have no incentive to rush to seize a market. Coriell could mail their saliva oragene collection kits and probably, eventually will. Remember, Coriell is an international biobank. It’s their business to send and receive biological samples by mail.They don’t because requiring participants to physically visit their office carefully limits the scale of their program. Coriell will probably be forced to send kits by mail to achieve their goal of 100,000 participants.

Further, for the $2500 cost of a Navigenics test, a better, free, declaratively medical test from Coriell is worth the daytrip and flight for the majority of people. The same is true for a $1000 23andMe or deCODEme test. Come on, this isn’t some fire sale at some outlet store in Kansas, this is an expensive medical test.

“Coriell will not give you access to your raw data, only their interpretation of items that they consider ‘medically actionable.’”

So? I don’t get back the raw data of any other medical tests I take. If you just want a SNP sample of your genome because it’s cool, go buy a 23andMe or deCODEme test. That’s like getting an x-ray because you “want to see what your bones look like.” OK, some people may want to do this… and hey, I bought a 23andMe test for this reason… but most people aren’t choosing their x-ray test provider based on whether they get to keep their x-rays.

“The author is naive if he thinks that this initiative is going to wipe out all the for-profit ventures in this arena.”

No, of course DTC genomic companies aren’t going to be immediately wiped out. People will continue to buy DTC genomic tests, and most of the fly-by-night competitors have already been swept away by regulatory scares.

The problem is that DTC genomic companies aren’t profitable. They are investment-funded companies. (deCODE is a public company, but it too has never been profitable and operates by spending investment.) To raise additional capital to continue operation, these companies must convince investors that they will earn a return on their investment. However, given the Coriell PMC, investors must be convinced despite that

• The current market price of a genomic test has dropped from $1000 to $0 for the first 100,000 customers.
• The government has proved that will fund competing efforts to offer the same services and perform the same research. These efforts will use superior, better established institutional resources and have no obligation to return capital.
• (BIGGEST) The existing medical research establishment has proved that it will conduct its own genomic services and research rather than work with venture-funded startups like Navigenics.

Especially for Navigenics, the idea is that these tests will eventually be medical information to be used by doctors and purchased by pharama companies. That is the investment. Unfortunately, the Coriell PMC is a political statement that clearly states: “No, we don’t want or need your company. We will provide these ourselves, we will undermine the market for your genomic data by conducting the same research better than you can, and we’re not going to help you.” This is FAR worse than the former two points because it extends to hypothetical genomic products like sequencing, not just SNP set tests. Otherwise, one could make a credible argument that the Coriell PMC will prime the genomic testing market with government money, and once the project concludes, a company like Navigenics would be ideally suited to serve that market (assuming it was well-enough funded to weather the government-sponsored “free trial.”)

“Actually, GINA says that insurers/employers cannot request or require that you take a genetic test. So discrimination based on *not* having a test is still illegal.”

This merits its own post (coming)…

I’m a fan of people who are inspired enough to create something really unique on the web. Doctor Anonymous launched his radio show a year ago and he keeps on featuring medical bloggers, physicians, nurses and medical students.

Join us Thursday, August 28, 2008 at 9pm eastern time for Show 46 of The Doctor Anonymous Show. We will be celebrating our one year anniversary (yes, I haven’t been cancelled, yet). Join us in the chat room, see me on the web cam, call into the show to say hello. And, we will also be having Ask Doctor Anonymous. What’s that? Well, tune in to find out!

This March, I was featured in one of his shows and woke up at 2:30 AM to talk with him for an hour. It was a fascinating experience.

The preview of the show.

Helix Gene, The Foundation for Genomic Health Education just released two Clinicasts on CDs to let us listen to valuable discussions about genomic medicine while sitting in a traffic jam. An excerpt from the mission statement:

The foundation’s mission is to educate all healthcare participants about the promise of genomic medicine and enable its delivery to the patient.

You can order those here.

• CliniCast #1: How Genomic Medicine Is Changing the Management of Breast & Ovarian Cancer
• CliniCast #2: How Genomic Medicine Improves the Accuracy of Warfarin Dosing

You can grab the complete headlines and abstracts in the latest issue of The Alchemist on ChemWeb.

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Intelligent Molecular Design

Unfortunately, Kearse and Jackson have been unable to obtain DNA samples from Madison’s descendants, stating that they have been “neither sincere nor forthcoming in this effort.”  The president of the National Society of Madison Family Descendants, Frederick M. Smith, cited confidentiality concerns and declined to comment.

An article in the Washington Post describes the situation.  According to Smith, “his society has received several claims of family ties to the president over the years and those wishing to test their DNA against that of a Madison family descendant can do so through an online genetic testing service, a method he called objective and without racial bias.”  However, Jackson called the approach “scientifically flawed.”  I disagree with Jackson; this method would clearly shed light on the question.  Of course a negative result will mean more research and testing, but a positive result would really get the ball rolling.  I also don’t believe that Jackson’s lab or organization should perform the comparison; it clearly should be a neutral third party.

The Madison Society has suggested that Family Tree DNA be used to compare Kearse’s DNA to DNA from an anonymous Madison descendant.  According to the article, Jackson maintains that “there was no way to verify, genetically or historically, whether the so-called Madison DNA being used for the test would be valid. If the test came back negative, he said, it would prove nothing, but Kearse’s claim might still be dismissed as false.”

Of course, traveling down the Madison family tree is not the only direction to go.  I’m sure Kearse will be able to identify a distant Madison relative who will be willing to submit a DNA sample.  Indeed, in December, “Jackson traveled to England to meet with a British genealogist in hopes of locating a descendant of Madison’s great-great-grandfather, John Maddison Sr., a ship’s carpenter who emigrated to Virginia in the 1650s.”

Siming Shen et al., in their paper, “Age-dependent epigenetic control of differentiation inhibitors is critical for remyelination efficiency“ provide insight on basic mechanisms of myelination.  While myelination (think of it as the plastic insulation on copper electrical wires) makes normally developing neural networks much more efficient, it has a way of inhibiting the re-development and repair of mature neural circuits. The research team shows that recruitment of histone deacetylases (HDACs) is rather inefficient in mature oligodendrocytes precursor cells (the cells that adhere to bare neuronal axons and form the insulating myelin-rich sheath) in contrast to younger cells which differentiate readily.  HDAC1 and HDAC2 are shown to down-regulate of Hes5 and Sox2, which have previously been implicated in blocking the differentiation of stem cells to oligodendrocytes.  Here, the term ‘epigenetic’ refers to the mechanism of gene regulation - not by way of transcription factors binding to specific sequences - but rather, by factors being sterically blocked from binding by the 3-dimensional superstructure of the chromosome that occurs when histone proteins are deacetylated.  The team suggests that as the brain ages, it becomes more difficult to recruit HDAC1,2 to the promoters needed to shut down the expression of the differentiation inhibitors.  The results pose a confound for the certain applications of inhibitors of histone deacetylases (HDACi) which have demonstrated anti-tumor activity - but may - as suggested by this article - have negative consequences on brain repair processes.