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Posts from the ‘1000$ Genome’ Category

Personalized Genetics: Research in the News

When I started to share the most recent news and improvements of personalized genetics or genomic medicine, it wasn’t an easy job to find 4-5 articles a week. Now, my bookmark is totally full and I have to write posts focusing on different aspects of this special field of medicine. This time, while a whole genome sequencing costs less than 60,000$, genomic research should be in the focus:

Consumers also lack confidence and knowledge about genetic testing. They are generally concerned with privacy and the possibility of discrimination in health insurance and employment. However, consumers were interested in the genomic technology that can lead to better diagnosis and care for certain diseases – the ones for which they and their family members are at increased risk.

These genomic companies have taken a huge financial and clinical risk in bringing these tests to the market. The tests are in their infancy and each of these companies are transparent in advising their customers of this fact. That said, massive scientific research continues to take place to build on the knowledge base of these tests, so that they may be refined. This process will never end.


After gathering extensive experimental information on the metabolic networks of three different single-celled organisms, the researchers built a general quantitative model that can be used to control and restore biological function to cells impaired by a genetic defect or by other factors that compromise gene activity. Their network-based method does this by targeted deletion of genes, forcing the cell to either bypass the functions affected by the defective gene or to compensate for the lost function.

Personalized Genetics: The last words in 2007

I promise these will be the last words about personalized genetics thiy year. The “hypest” topic of 2007 was individualized medicine, no doubt about it.

When I first read the announcement of 23andMe, I wanted to use their service, but as a European, it’s still impossible. So here are others who have recently recieved their results.

Have you been thinking about the medical breakthroughs of the year? Well, Science described some of them:

Individualized medicine has serious scientific aspects:


And let’s finish the year with reviews of 2 services:

Personalized Genetics: World Record?

I hope I can set a Guinness world record for displaying the most links to the best resources of personalized genetics in one post.

First, the post of the week award goes to Andy De for writing Personalized Medicine – Myth, Pipe Dream or Realizable Promise?

The series of the month award goes to Blaine Bettinger for the articles about the 1000$ genome (Part one, two, three and four).

While, according to Keith Robison, we have an incredibly shrinking human genome, the risks of obtaining and sharing your genome sequence are being discussed at The Personal Genome Blog.

Even if Direct-To-Consumer advertising for genetic tests may mislead patients, there are more and more services on the market: Cytochrome P450 testing for better psychiatric care

It’s crucial to educate laypeople properly, maybe that’s why FDA has recently launched an e-mail alert subscription service:

The service is free and available for a wide variety of FDA’s Web pages, including food safety protection, medical product approvals and consumer health information.

Opportunities For Pharmacogenomics and Personalized Medicine (Russ. B. Altman):

We’ve already seen many comments and opinions from physicians, scientists, but what about venture capital investors? How do they see this special field of medicine?

Don’t forget to check out the Release Zero Blog for more about CeHR 2007 International Conference focusing on personalized medicine and eHealth.

And do you know what we need to move on in the realm of personalized genetics? More sherpas

Personalized Genetics: Back to the Personal Genome Project

It’s so good to see Jason Bobe back in action as he has recently presented the Personal Genome Project’s new website and also reported that the Project entered the competition of the Archon X-Prize for Genomics.


Thomas Goetz at Epidemix posted the thoughts of George Church, the head of the Personal Genome Project, about those personal genomic companies.

Of course, nowadays, I can’t write my carnival-like post without mentioning at least one genetic company, so here is Hsien-Hsien Lei’s interview with Knome CEO Jorge Conde.

But Knome offers it’s service for 350,000$! Where is the realm of the 1000$ genome? Blaine Bettinger, our genetic genealogist, tells you

If you can’t afford $1000 to know more about your genetic destiny, then store your DNA at home! DNA Direct makes it possible for you.

Image credit and more info: Eye on DNA

At last, I strongly support the opinion of Christine Patch, a genetics counselor and member of the UK’s Human Genetics Commission (via WSJ Health Blog):

My message is you are wasting your money.

Progress in this field is extremely encouraging, but it’s premature for this kind of test to be offered,” David Valle, director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins recently told the WSJ. “For the most part, it is too early for the tests to have any meaningful impact on the current practice of medicine.”

Knome: The Review

As today is the day when Knome launches the first commercial whole-genome sequencing and analysis service for individuals, I thought it’s time to write the review about them. If you want to read the review about 23andMe, Navigenics or Helix Health, check out this post.



  • Design: Too simplified. It looks like the site of 23andMe in the old days, so I’m pretty sure it’ll change a lot soon.


  • Informativeness: An About me page that mentions the founders; and a FAQ page that aims to answer all the important questions. Anyway, they fail to mention the details of their “comprehensive” analysis and the other team members like clinicians or geneticists. They don’t tell us how they predict disease-associated risks neither.
  • Team: The main advisor is unquestionably the best in the field of personalized genetics: George Church, the Professor of Genetics at Harvard Medical School. He is a good reason to choose Knome, but he also is an advisor for  23andMe.


  • Method: Whole-genome sequencing which means not only the essential SNPs (single nucleotide polymorphisms) will be analyzed, but the whole genetic code of an individual. Though, only the first 20 clients will have this historic opportunity. In my humble opinion, it’s too brave to say that in this period of research:

Whole-genome sequencing allows for the analysis of up to 2,000 common and rare conditions, and over 20,000 genes – numbers that are rapidly growing.

“Whole-genome sequencing is the endgame. It will enable us to look at nearly 100% of your genetic code compared to the less than 0.02% currently available on SNP chips. This is the approach that most fully reveals what our genomes can tell us about ourselves.”

  • Cost: The service will start at $350,000, including whole-genome sequencing and an analysis from a team of geneticists, clinicians and bioinformaticians who will also provide continued support and counseling.
  • Target, Research: The medical conditions they plan to analyze are not specified. Regarding research:

Another complementary mission of Knome is to provide researchers with access to sequenced whole genomes in order to enable Genome Wide Association Studies (GWAS). We believe that approaching interested individuals directly is the fastest way to create the critical data needed to make significant scientific breakthroughs. That is why we also offer each client the option of allowing researchers to have access to their anonymous sequenced genome. While we hope that a significant percentage of our customers will do so, it is not required.

Of course, it’s going to be the service of the richest people on Earth, but the 1000$ genome could also become reality maybe in the next year. I’m still skeptic as Knome doesn’t say a word about how they can connect the data of whole-genome sequencing to the future of my health.

Look, I’d be the happiest person in the world, if personalized genetics could be reached by anyone. Personalized genetics must be about science and not business. I couldn’t find a word mentioning the scientific background behind Knome or the scientific method they plan to work with.

At this time, it’s nearly impossible to tell specific disease-associated risks based on SNP analysis or even whole-genome sequencing. Let me know if I’m too skeptic.

Personalized Genetics: Spitting Business

I know I promised to write the second part of my résumé on Monday, but it’s been a crazy week, so here are the newest links and articles about personalized genetics. I apologize for the delay:

Ahh, it feels good to tell you about data leading us up to the personalized medicine revolution. We must not take our eyes off the prize here. Party tricks with an algorithm not validated is NOT personalized medicine. But the results of this study once further replicated could be. Imagine reflex testing for RAD51 SNPs after you have the BRCA results. This could put the decision process into a less ambiguous path.

One reason is that scientists do not yet know exactly how the genetic variations they can identify cause disease, so the information provided may prove inconclusive or even misleading. Another problem is to do with regulation. Keen to avoid the scrutiny of the Food and Drug Administration, which does not yet have a role in overseeing this fledgling industry, all the firms are careful to emphasise that they are not providing medical diagnostics services—though they are plainly providing information that customers will use to assess medical risks.


Students in Purdue University’s Department of Computer and Information Technology are working to develop an information-management tool that could give pharmacists instant access to patients’ genetic profile, making it possible to quickly determine the proper medicine dosage or if the drug cannot be tolerated by the patient.

Would you like to know more about the market of personalized medicine? It costs you 1599$

That’s all for now, check out Scienceroll’s collection of personalized genetics-related articles.

Personalized Genetics: Decode Me or not Decode Me?

So many interesting links, articles about personalized genetics again which means I have to post the first part of my weekend résumé today, and the second one tomorrow. I hope you’ll enjoy it. Let’s start with the 23andMe, DecodeMe, Navigenics story:

I think that obtaining one’s own genetic information should be absolutely free of governmental regulation… The last thing we need is more regulated information. FDA, trust your own citizens, we’re smart enough to handle a bit of information about ourselves.

Still, neither academics nor disease-focused foundations are likely to provide the level of funding that could turn a company like 23andMe from an intriguing curiosity into a commercial powerhouse. Who does have that kind of moolah? Big Pharma and Big Biotech, of course. Recall, for instance, that 23andMe is backed not only by Google, but also by Genentech.


While I understand the excitement surrounding the launch of these companies (mainly engineered by the media), I don’t get why we should be any more excited by their offerings than by what’s already available on the market.


Was this the first sign that I had inherited the arthritis that gnarled my paternal grandmother’s hard-working fingers? Logging onto my account at 23andMe, the start-up company that is now my genetic custodian, I typed my search into the “Genome Explorer” and hit return. I was, in essence, Googling my own DNA.

I had spent hours every day doing just that as new studies linking bits of DNA to diseases and aspects of appearance, temperament and behavior came out on an almost daily basis.

Stay tuned for tomorrow’s collection!

Personalized Genetics: It has officially begun!

Do you think it’s enough to share some links about personalized genetics with you once a week? Of course, not! The live webcast of 23andMe finished some minutes ago which means I should write some thoughts on this.


I had several questions answered including (their answer):

  • When do you plan to expand your service to Europe? (Later, later…)
  • How effective do you think your risk predictions are? (Just as much as current scientific research can be.)
  • Do you plan to help patients with genetic counseling? (Yes, through online tutorials, but not in person.)
  • Do you think your prediction models are well established? What can you tell your patient about his risk for obesity based only on one or just a few genes? (It seemed they didn’t accpet long questions.)

Check out the questions of Attila Csordás at Pimm. Attila had an other post about the subject as well: Genetics brings people together, rather than differentiate.

Steve Murphy, our gene sherpa, has been working really hard in the last few days:

Without further examination, the advice 23 and Me, Navigenics etc. are giving now is just plain useless. That is precisely why deCODE has stated that their test should not be used for medicine. Only healthcare practitioners trained in interpreting your data should be… Too bad there are only 100 geneticists who are trained in adult disease :( As for the disclaimer not to be used to diagnose or treat…last time I checked, I am ordering the same tests as 23andME to diagnose and treat! Maybe they should add a caveat “But to steal your genome” at the end.

Deepak Singh at BBGM posted some interesting videos, interviews about 23andMe’s privacy issues and many more.

Ricardo Vidal at My Biotech Life talks about the spitting business.

Thomas Goetz published some incredibly intersting material at Wired. The first article contains a timeline of the age of genome. He also had his genome analyzed by 23andMe and Navigenics with these results.

Nicholas Wade also expressed his opinion on the story in New York Times.

I’m thrilled by the power of 23andMe ( 23andMe for geneticists is something like Google for programmers), but I would love to watch some interviews taken with medical professionals of their company. Where are they? From this point of view, Helix Health seems to be a better option, although I think it’s still too early to launch a personalized genetic service. Not just the public, but even the scientific community doesn’t seem to be ready for this. We’ll see what happens…

Stay tuned!

23andMe: The Re-Review

A week ago, I wrote a review about the three major companies focusing on personalized genetics. That time, I couldn’t include all the required information in the section of 23andMe. Now, here is the re-review:



  • Design: Great! Clear structure, big buttons, nice colors. That’s how it should look like because all the functions are easily accessible.


  • Informativeness: I must say, nearly perfect. Own pages for experts and laypeople as well. Sections for the scientific and the medical communities. Tutorials, descriptions, explanations about the basic concepts of genetics and their service. Like David P. Hamilton noted that more information about genetic counseling would be needed.


  • Cost: Price per kit is $999 plus shipping.
  • Target: Breast Cancer, Crohn’s Disease, Heart Attack, Multiple Sclerosis, Obesity, Prostate Cancer, Restless Legs Syndrome, Diabetes Type 1 and 2, Venous Thromboembolism, Bitter Taste Perception, Earwax Type, Lactose Intolerance and Muscle Fiber and Sports. Read about the genetic associations here.
  • Media Coverage: BBGM, My Biotech Life and VentureBeat.

Just one more note about direct-to-consumer genetic testing:

Some argue it is too early to make personalized genetic information directly available to consumers, contending that the level of public understanding has not matured to the point that most people are able to understand their results, and that genetic associations discovered to-date have little actual significance.

23andMe believes people have the right to access their personal genetic information. Genetic information is a fundamental element of a person’s body, identity and individuality. As such, the rights that people enjoy with regard to financial, medical and other forms of personal information should apply to genetic information as well.

I’ve always been optimistic, but I don’t think the public is ready right now. Can you really tell the patient about his/her susceptibility to medical conditions? I’ve been working with COPD-related SNPs and there are plenty of SNPs that indicate a higher risk for COPD, there are others that indicate lower risk, and there are many more that we know nothing about. The only thing I can tell my patient is that based on the SNPs I analyzed, he/she has a risk regarding that specific condition, but that’s all. Forget about universal susceptibility rates! Is this information worth $999?

One example is the risk for obesity. They analyze a SNP of the gene FTO (rs3751812 – Nature article requires subscription). Maybe the reason is my lack of expertise, but can we tell the patient anything about the risk for obesity by analyzing one gene’s one SNP? Or do they make only one SNP public for business reasons? The answer of 23andMe would be most welcome!

I understand that they had to launch the service, but we’ll need years of research to make it really useful. Anyway, it’s very important to promote the work of the first personalized genetic companies including 23andMe as I believe, they hold the key to the future of medicine. What do yout think?

Personalized Genetics: Weekend Summary Part Two

This is the second part of this weekend’s summary about personalized genetics.

What will be your genome’s impact?
I think this genome sequence will serve as a reference for the start of individualized medicine. We hope that by next year we’ll have 30 to 50 additional genomes and that eventually we’ll get at least 10,000. Once we create databases of many individuals’ genomes, we can start to sort out nature and nurture and give people information that can help them prevent disease.


  • Robin’s Market Blog: Response Genetics Plans to Make Available Its ERCC-1 Molecular Diagnostic Test for Platin-Based Chemotherapy Resistance in the First Quarter of 2008

Let’s finish this edition with a quote from George Church featured by Eye on DNA:

If you have cancer predisposition, you can get early diagnosis. You can get a mastectomy so you remove the tissue that’s likely to cause trouble. For stomach cancer, for colon cancer, there are various things that people do in advance. Or, you could [find out you] have a bad drug reaction, [and] you could just never take that class of drugs or food.


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