genomeboy.com

Dan and Daniel have all of the incisive analysis you need about the deCODE unraveling. Meanwhile, Steve invokes Sartre:

Publicly owned companies shares are extremely liquid and can be crushed pretty easily, where as rich ol’ moneybags (SergeandMe) can keep throwing money into the kitty and outlast this economic downturn and premature launch of these companies, hoping to innovate his way out of this money pit.

This reason is probably why DeCodeme went private and will likely give up control of their data. They need some sucker to keep pouring money into a boondoggle that has no exit for at LEAST the next 15 years if at all.

If that doesn’t satisfy your schadenfreude jones, the Yahoo message boards have a bevy of shareholder bile aimed at deCODE’s founder and CEO.

23andMe co-founder and President of the nascent Brainstorm Research Foundation Linda Avey is blogging:

The usual arrows were flying at the HUGO conference…a few, very vocal scientists seem to be quite threatened by this notion of democratizing DNA. They characterize it as “trivializing”, which simply doesn’t make sense. I just don’t agree that providing people with their genetic data, which would be virtually impossible for them to derive on their own, demeans or trivializes it. Rather, I think the research community has taken the notion of “human subject protection” way too far, to the point of unchecked paternalism (for more on this, check out Anne’s post here, http://j.mp/RHIrX). And I do think the lay public is capable of understanding that what is currently known about their DNA is mostly a work-in-progress. (via Genomeweb and HUGO)

She also points to a fascinating website developed by someone in Vancouver who appears to have a lot of time on his hands. He underwent genome scanning from the Big Three and found that his results compared favorably to other accounts.

In case you missed it:

The average sequencing consumables cost for these
three genomes was under $4,400 (table S5). The raw base and
variant call accuracy achieved compares favorably with other
reported human genome sequences (2–12).

The Complete Genomics folks have sequenced a human genome at 45x coverage for $1726 in consumables.

The Genomics Law Report continues to dazzle. Two recent commentaries merit special attention.

• Daniel MacArthur on  the right of research participants to the entirety of their data:

Returning incidental findings poses major challenges for researchers: it requires disrupting well-established protocols for informed consent and subject anonymisation, and establishing new frameworks for responsible data return and counselling. Yet the alternative approach – withholding medically useful (or even simply intellectually interesting) information from research subjects even if they request it – is ethically problematic. In the absence of convincing evidence that disclosure of results causes harm, I would argue that the default position should be that research participants have complete access to their own genetic data if they request it.

• And Barbara Prainsack on the ways in which access to that data may create not only rights, but, for better or worse, obligations:

It is indeed a welcome development that growing numbers of people can access genetic and other health information (personalised and otherwise) relatively easily, and that specialised medical knowledge is no longer the prerogative of those with a professional education…But the participatory turn in medicine is also indicative of an ongoing individualisation of responsibility in health care: The more knowledge we can obtain, the more we will be expected to obtain, and to pay for.

From mobihealthnews:

At the TEDMED event here in San Diego this week, personal genomics company 23andMe co-founder Anne Wojcicki announced that the company now had more than 30,000 “active” genomes in its database and that it would soon launch a “Relative Finder” service for its users.

As part of the new service, users can explore connections to other users of the site to determine how related they are to each other. 23andMe is offering free genotyping for TEDMED attendees, so Wojcicki joked that this time next year we can all find out how related we are to each other.

I am assuming the timing of the “going bust” thought experiment was only a coincidence:

Personal genomics startup 23andMe has just gone through a round of layoffs, we’ve confirmed. The company declined to comment on how many people were laid off, but offered this statement:

We have reduced our staffing levels in a restructuring of our workforce. This was a very difficult decision, but one that we felt was necessary to achieve 23andMe’s long-term business development goals and maintain our strength in the industry.These cuts, which are a reflection of the current economic environment all companies are facing, will allow us to continue to invest in the growth of our Personal Genome Service and research endeavors.

Excerpts from The Federal Register, 7 October 2009 (pdf, but a total page-turner):

Genetic information is defined, with respect to an individual, as information about the individual’s genetic tests or the genetic tests of family members, the manifestation of a disease or disorder in family members of such individual (that is, family medical history), or any request of or receipt by the individual or family members of genetic services. The definition further clarifies that genetic information does not include information about the sex or age of any individual.

A disease, disorder, or pathological condition is manifested when an individual has been or could reasonably be diagnosed by a health care professional with appropriate training and expertise in the field of medicine involved. However, the definition further provides that a disease, disorder, or pathological condition is not manifested if a diagnosis is based principally on genetic information.

GINA’s prohibition on the use and collection of genetic information could increase the potential for adverse selection in the individual health insurance market. Adverse selection arises when individuals seeking coverage have information about their health risks that issuers do not know.

To the extent that GINA and these interim final regulations prohibit group health plans and issuers from incentivizing employees to complete [health risk assessments]  requesting genetic information including family medical history, and response rates for HRAs drop as a consequence, a cost may be incurred that is associated with the forgone benefits of identifying disease risks early and preventing their onset.

The more I read this statute, the less I like it.

Stephen Quake discusses what he learned from his genome:

FWIW, Quake, co-founder of Helicos, interpreted his sequence using Trait-o-matic, an open-source app developed in the Church lab that I and the rest of the PGP-10 are using to interrogate our genomes and about which I expect to have more to say in the near future.

A few months ago Dan Vorhaus asked me to contribute a brief commentary to his and his colleagues’ fantastic blog, The Genomics Law Report. The admittedly modest fruits of my labor are now up.

Dear Dr. Board-Certified Clinical Geneticist:

First of all, thank you! Sure, you could have bailed after pediatrics or internal medicine and made more money, but you chose to stick around for a couple more years, incur still more debt, and make less. Much less! (Fortunately, you are a doctor and not a financial adviser.)  And a fine doctor you are, schooled in the ancient art of dysmorphology, which is probably as inscrutable to your molecular-fetishist colleagues as exon-capture protocols are to you.

It is meant to be light and to both poke a bit of fun at and sympathize with medical geneticists. I thank David Dimmock for helpful feedback, though all of the blame lies squarely with me.

For a more responsible take, please read Hank Greely’s commentary.

23andMe co-founder Linda Avey is leaving for the nonprofit world:

I’ve decided that I’d like to focus my efforts on an area that is personally significant and will continue to have a huge impact on our healthcare system–Alzheimer’s disease. Effective today, I’m leaving 23andMe and have begun making plans for the creation of a foundation dedicated to the study of this disorder. The foundation will leverage the research platform we’ve built at 23andMe–the goal is to drive the formation of the world’s largest community of individuals with a family history of Alzheimer’s, empower them with their genetic information and track their brain health using state-of-the-art tools. We’ve always planned to include Alzheimer’s in our 23andWe research mission…I’m just approaching it from a new angle.

Some of you might be aware that my father-in-law suffered from Alzheimer’s and passed away last year. For this reason, Randy and I are motivated to do what we can to improve the understanding of what leads to the debilitating symptoms and what might prevent them from starting in the first place. The ApoE4 association is barely understood but gives us a great starting point.

More details here. Speaking personally, even when we’ve disagreed, for as long as I’ve known her, Linda has been nothing but gracious to me and incredibly generous with her time. I wish her the best and have every expectation she will succeed at whatever she puts her mind to.