Category: bad genetic testing
Pharyngula, via a reader, points me to
the most aggressively bad attempt at a genetic testing product I have ever encountered, coupled with a truly horrific attitude to parenting.
The tag line alone is hilariously inept:
"Our Technology Spawned from Human Genome Project led by US Scientists. The Industry is Featured by CNN, CBS News"
The idea that is being spruiked here is that genetic testing can help you determine your child's "inborn talents", which you can then use to ruthlessly jam them into whatever career the test results suggest.
The presenter notes that he "wasted a lot of time exposing my children to as many extracurricular activities as possible" - how fortunate that he can now give us access to genetic testing technology to save us the money and effort involved in letting children choose their own favourite activities!
For anyone uncertain about this: the test is a scam. It is impossible to predict which career your child is best suited to using any genetic test. Don't buy it. That is all.
Here's a screen-shot that tells you everything you need to know:
Posted by Daniel MacArthur at 7:00 PM • 8 Comments
Category: consumer-driven research • diy genetics • open science • personal genomics
European Genetics and Anthropology has
a neat little tutorial that may be of interest for genetic hobbyists: it provides instructions on how to run the program
STRUCTURE on your own genetic data generated by a personal genomics company such as
23andMe or
deCODEme.
STRUCTURE is an extremely popular tool among researchers working in population genetics, which allows you to generate plots showing estimates of the proportion of an individual's genome belonging to different population clusters.
The tutorial on the blog shows you how to run your analysis using a subset of just 125 markers selected from your genetic data. That's enough to get a sense of what's going on, but of course having access to more than 500,000 markers from a genome scan theoretically allows you to perform a more powerful analysis using a much larger set of markers (and comparing to, say, the freely available
SNP data from the Human Genome Diversity Panel).
It's great to see tools developed by academia being democratised by personal genomics hobbyists. One major benefit: if your personal genomics company
does go bankrupt, so long as you've downloaded your data you can still analyse your genetic ancestry...
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Posted by Daniel MacArthur at 7:15 AM • 0 Comments
Category: decode genetics • decodeme • finance • law • personal genomics
I was just sent this email by a deCODEme customer:
As a valued subscriber to deCODEme, we wanted to write to you directly to
let you know about some important developments in the company and how we
believe these will underpin our ability to continue to keep you in the
forefront of understanding what the latest advances in genetics mean to you.
For the past several months, deCODE has been working on restructuring its
operations. One of the principal goals of this effort has been to enable us to
find new investment that will continue our work in human genetics and to offer
to our customers the products and services that are based upon our expertise
and capabilities. Today we have announced concrete steps in that direction.
This morning deCODE genetics, Inc. filed a voluntary petition for Chapter 11
protection in the United States. At the same time, there has also been filed
with the court an offer by Saga Investments LLC to purchase deCODE's Icelandic
subsidiary, Islensk Erfdagreining (IE). IE, which is not declaring bankruptcy,
carries out all of deCODE's human genetics work and and provides deCODEme.
We believe this offer provides a firm foundation for continuing to offer you
the same path breaking science and service you expect from deCODEme. Saga is
led by Polaris Venture Partners and Arch Venture Partners, two leading
technology investors who were involved in the founding of deCODE. While other
higher bids may be made for IE under the Chapter 11 process, this offer, even
if no others are forthcoming, provides resources for us to continue operations
without interruption during the Chapter 11 proceedings, and would provide up
front funds sufficient to support operations for two years. With the filing
today, deCODE has also asked the Court for the customary authority to continue
to manage its operations and serve its customers during the proceedings. [my emphasis]
For this reason, we do not expect this to have any impact on your deCODEme
account. As ever, our commitment at deCODEme is to keep you in the forefront of
progress in understanding the human genome and what it means for you and your
health.
Please don't hesitate to get in touch with our
customer support team if you have any questions.
.
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Posted by Daniel MacArthur at 5:00 AM • 2 Comments
Category: decode genetics • decodeme • finance • law • personal genomics
Struggling Icelandic biotech
deCODE Genetics has finally reached the point of formal insolvency. A press release today announces that
the company has filed for chapter 11 bankruptcy in a US court:
As I understand it, following the filing deCODE will continue to operate its business, just in a different form: the company has
entered into an agreement with a US investment firm to sell off its subsidiary Islensk Erfdagreining (IE), which "conducts deCODE's human genetics research, manages its population genetics resources and provides its personal genome scans, DNA-based risk assessment tests, and genomics services for contract customers". In other words,
pretty much all of the core business that deCODE does will continue, simply under a different name.
While deCODE will limp on for a couple more years under this agreement, this is very much a temporary fix. The core problem for the company - figuring out how it can use its expertise and unique resources to generate an actual profit, rather than simply more Nature Genetics paper - remains. Until that problem is solved the company's future, and that of its superb genetic resources and databasem remains in doubt.
What would happen to the genetic data from customers being held by deCODEme if the company goes under for the final time? Three very timely recent guest posts from Dan Vorhaus and Lawrence Moore here on Genetic Future provide a solid basis for speculation,
here,
here and
here.
We'll have to wait and see what the future holds for deCODE's database, and cross our fingers that it doesn't simply slip under the Icelandic permafrost.
For the financially cognisant, I've added more details from
Stockhouse:
Read on »
Posted by Daniel MacArthur at 4:45 AM • 8 Comments
Category: 23andme • decodeme • navigenics • pathway genomics • personal genomics
Added in edit: for superb analysis of the announcement from multiple angles, you should also check out Dan Vorhaus' three incisive articles on Genomics Law Report.
Personal genomics company 23andMe
announced yesterday on its blog (and in an email to customers) of impending changes to its product line. Until now 23andMe has offered only two products: its $399 full scan, and a $99 Research Revolution product that
offers limited functionality and a focus on common disease risk prediction.
There are two major components of the altered product line. Firstly, customers will now be able to purchase separate products focusing on health and ancestry: the Ancestry Edition ($399) will focus on ancestry and genealogy analyses, while the Health Edition ($429) will provide risk predictions for common diseases and provide an updated line of carrier testing for rare, severe, recessive mutations relevant to reproductive decisions. It sounds as though 23andMe plans to move more extensively into the carrier testing market:
Read on »
Posted by Daniel MacArthur at 8:15 AM • 8 Comments
Category: 23andme • genetics of normal variation • genome-wide association studies • personal genomics
Medland et al. (2009). Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans. The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2009.10.009
A couple of weeks ago
I reported on a presentation by
23andMe's Nick Eriksson at the American Society of Human Genetics meeting in Honolulu, in which Eriksson presented data on a series of genome-wide association studies performed by the company using genetic and trait data from its customers.
Along with genetic analysis of a variety of other traits (such as
asparagus anosmia and
photic sneeze) Eriksson presented data on two novel regions significantly associated with hair curl, one close to the
TCHH gene and a second near
WNT10A (see
the abstract for details). I noted at the time that 23andMe appears to be doing a pretty good job of running genome-wide association studies, although of course the real test of this is independent replication.
Well, now we have replication (of a sort) for at least two of 23andMe's novel findings - but unfortunately for the 23andMe crew the "replication" study has beaten them into print.
Read on »
Posted by Daniel MacArthur at 7:15 PM • 18 Comments
Category:
Yesterday I posted
a brief rant about the need for researchers to think about the best way to return genetic research data to participants, spinning off
an equally brief opinion piece I wrote for the
ongoing ELSI series at
Genomics Law Report.
Posted by Daniel MacArthur at 1:15 PM • 0 Comments
Category:
My contribution to Genomics Law Report's superb "What ELSI is New" series is up now.
The gist of my argument: as we move into an era of large-scale whole-genome sequencing studies and the utility of genomic information grows, researchers will increasingly frequently be faced with the discovery of highly medically relevant information within their subjects' genomes. Yet under the consent procedures established for most modern genetic research projects the anonymised subjects would never have a chance to learn about this information.
As such, people will die from breast cancer and other diseases even though someone out there possesses genetic information
they would have needed to avoid this that could have been used to guide additional screening to detect such cancers early.
Throwing medically actionable data away without the subjects ever having a chance to learn about it is unconscionable -
we need to start changing the way we think about the rights of research subjects to their own data.
It's important not to understate the challenges posed by returning research data to research subjects - such as balancing against the need for privacy and data security, or unduly alarming people with inaccurate results - but these are not reasons to avoid data return. They are simply obstacles we need to overcome.
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Posted by Daniel MacArthur at 10:15 AM • 9 Comments
Category: complete genomics • disease genetics • huntington's • whole-genome sequencing
New-technology DNA sequencing provider
Complete Genomics will provide near-complete genome sequences of 100 individuals to the
Institute for Systems Biology, driving the first ever association study for a complex trait using whole-genome sequencing. Here's
the press release, and
GenomeWeb has some additional information.
This is pretty exciting stuff:
Read on »
Posted by Daniel MacArthur at 7:30 AM • 5 Comments
Category: law
The rather worrying conclusion is that "at present it does not appear that there is any federal regulation--including HIPAA--that clearly restricts the transfer of customers' information as part of a sale of assets by a troubled DTC genomics company." Given that uncertainty, Moore and Sherlock conclude:
...the most practical advice at this time, for existing and potential customers, continues to be to understand the terms and conditions offered by each individual DTC genomics company with respect to their customers' information--and to recognize that, in bankruptcy, genomic data may be transferred to a similar company without regard to those terms and conditions.
There's also a tantalising promise of posts to come in the near future exploring the implications if impending regulatory changes in the DTC genomics area push testing companies firmly into the realm of clinical diagnostics.
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Posted by Daniel MacArthur at 12:00 PM • 2 Comments
