genomeboy.com

Jenny Reardon on those who choose to opt out:

Only significant effort will achieve the participation of the broader and more diverse range of human beings required for [genomic] research. Understanding why some people participate, and many do not, will demand understanding the specific ways in which genomic ideas and practices form from and re-form social practices of racism and inequality–issues that remain with us despite the last decade of proclamations about the anti-racist and equalitarian features of genomics.

At Nature News, there is something of a eulogy/finger-pointing festival for deCODE and indeed, for personal genomics in general:

…Some other researchers, however, say that deCODE’s scientific approach is to blame. The company worked to mine genetic data for common variations linked to disease through genome-wide association studies (GWAS), and some experts note that these studies have turned up only a small fraction of the variation that causes disease. “The translation to commercial value is just not very direct,” says [Duke’s David] Goldstein, “in part because it is now clear that GWAS is not the tool of choice for unlocking the genetics of most common diseases.”

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…companies that focus exclusively on personal genomics services, such as the one sold by deCODE as deCODEme, might find themselves in more trouble, [Leerink Swann’s Isaac] Ro says. The services are not seen as a medical necessity, diminishing their appeal, particularly in difficult economic times. This year the personal-genomics company 23andMe, based in Mountain View, California, announced two rounds of lay-offs, lost one of its two co-founders and announced a series of product and price restructurings.

“There’s no clinical trial supporting the value of these results, so it’s really recreational genomics,” Ro says. Large academic centres, not consumers, will find value in the rich genetic databases; 23andMe has tried to move into the research market, but because its data come from a self-selected customer population their value is limited, he says.

Here we go, still trotting out the same tired tropes. I agree: GWAS is of limited value and this probably contributed to deCODE’s demise. But whatever deCODE’s fate, if whole human genomes can be sequenced for < $2000, isn’t it about time we stopped kicking GWAS’s ever-stiffening corpse?  Second, just because something is not a medical necessity, does it follow that it is worthless? Ask the participants in the REVEAL study or anyone else who’s received an APOE genotype because she WANTED to know. Ask the people who learned something about their hereditary breast cancer risk from 23andMe. Is that recreation? What about abacavir hypersensitivity? And finally:  yes, DTC genomics customers are self-selected. So are the 50,000 PatientsLikeMe participants. So are the 10,000 in the Coriell Personalized Medicine Collaborative. So are the 15,000 on the Personal Genome Project waiting list. So are the 400,000 in the UK Biobank. Maybe we should just toss out all of that data, too.

From a compelling story in the New York Times Magazine:

In an age of DNA, when biological relationships can be identified with certainty, it can seem absurd to hew so closely to a centuries-old idea of paternity. And yet basing paternity decisions solely on genetics places the nonbiological father’s welfare above the child’s. Phil Reilly, a lawyer who is also a clinical geneticist, has been wrestling with the policy implications of DNA testing for years, and even he is stumped about how society should manage the problem that men like Mike face. “We’re at a point in our society where the DNA molecule is ascendant, and it’s very much in the public’s consciousness that this is a powerful way to identify relationships,” Reilly says. “Yet at the same time, more people than ever are adopting children, showing that parents can very much love a child who is not their own. The difference here for many men is the combination of hurt and rage over the deceit, the fact that they’re twice beaten. I can see both sides of this argument. As a nation, we’re still in search of what the most ethical policy should be. Every solution is imperfect.”

The Personal Genome Project includes disclosure of nonpaternity as one of the explicit risks of participation. That said, having been warned is probably not much consolation to people who discover certain surprising things about their families.

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.

Elsewhere in this volume she talks about creationism, saying she “didn’t believe in the theory that human beings — thinking, loving beings — originated from fish that sprouted legs and crawled out of the sea” or from “monkeys who eventually swung down from the trees.”

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.

An Italian court has cut the sentence given to a convicted murderer by a year because he has genes linked to violent behaviour—the first time that behavioural genetics has affected a sentence passed by a European court. But researchers contacted by Nature have questioned whether the decision was based on sound science.

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“90% of all murders are committed by people with a Y chromosome—males. Should we always give males a shorter sentence?” says Steve Jones, a geneticist at University College London. “I have low MAOA activity but I don’t go around attacking people.”

Farahany points out that prosecutors could use the same genetic evidence to argue for tougher sentences by suggesting people with such genes are inherently ‘bad’.

“The question is where do you stop,” Jones adds.