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Posts from the ‘1000$ Genome’ Category

X-Prizes for Health and Medicine?

Have you ever heard about the Ansari X Prize that resulted in constructing the world’s first privately developed spacecraft?


Have you ever heard about the Archon X-Prize for Genomics? It will lead us to a new generation of genome sequencing methods.

What about an X Prize for Health and Medicine? Students at the Massachusetts Institute of Technology came up with some interesting ideas.

Of the specific proposals, one team suggested a prize for a major milestone in dealing with the problem of TB, which remains endemic in 22 nations and costs 1.7 million lives every year. Effective treatments exist, but the testing is relatively expensive and often misses active cases. So they proposed a $10 million prize for a new cheap, fast and accurate diagnostic system that could reach most of the 50 percent of cases that now go undiagnosed. Winning the prize would require not just laboratory demonstrations but field tests on 1,000 patients to show that it really works under difficult conditions.

The second proposal was for a simple, portable system that could be used by community health workers to carry out initial diagnostic evaluations for the 10 most widespread fatal, transmissible diseases. Such screening could lead to prescriptions of drugs or treatment for some conditions or referral to a doctor or nurse for conditions that require skilled care or more difficult diagnosis.

What do you think? An X Prize for Health and Medicine would be a good idea? Which medical specialty would be your choice?

Personalized Genetics: Towards the 100$ Genome

Please don’t forget to contribute to the database of real clinical examples I’m currently working on. Anyway,  I should create something like an RSS feed for all the interesting news and announcement I usually find in the field of individualized medicine.  But now I’m going to try to share some of them with you:

What makes the sequencing of Watson’s genome different from that of Venter’s? It’s the technology. Watson’s genome was sequenced using one of the next generation sequencing technologies (454), which allows much more sequencing bang for the buck. This isn’t a $1000 genome, but it’s a step in that direction.

The current study involves a much larger sample number of 120,000, which will allow researchers to gain a better understanding of 25 diseases through examining single nucleotide polymorphisms (SNPs) and a comprehensive number of copy number variants (CNVs).

The rapidly falling cost and time needed to map your DNA

13 years to map

4 years

4 weeks

2 days

What you have to know about personalized genetics

Genes load the gun. Lifestyle pulls the trigger.

By Dr. Elliot Joslin

I’ve written at least a hundred times about personalized medicine so it’s the perfect time to come up with a short description of what individualized medicine is about. In this new world of medicine, you get a treatment that is not only based on the epidemiological data of your population, but your own genetic background. But let’s start with a more appropriate definition:

Personalized medicine is use of information and data from a patient’s genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicine makes it possible to give: “the appropriate drug, at the appropriate dose, to the appropriate patient, at the appropriate time”. The benefits of this approach are in its accuracy, efficacy, safety and speed.

All right, here is an even shorter one.

…turning genetic variations associated with population-level risks of disease into medically advice useful for a single person sitting in an exam room.

We can also watch it on video:

Who are the key players?

23andMe: Single Nucleotide Polymorphism and genealogy analysis for 1000$. Check out my review or the demo account I created.


Knome: Whole-genome sequencing for 350,000$. Check out my review.


Navigenics: Will launch the service in days. My review is here.

Helix Health: A New York company founded by our gene sherpa, Steve Murphy, who answered my questions some months ago. Helix Health focuses on the family history of the patient and their genetic background as well. Genetic counselors discuss the disease-specific risks with the patients.


DecodeMe: It analyzes over one million variants in our genomes; calculates genetic risk for 23 diseases and finds our ancestors for $985.


Who and what do stand behind the whole concept?

Archon X PRIZE for Genomics: The $10 million X PRIZE for Genomics prize purse will be awarded to the first Team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome.

The aim is the 1000$ genome.

Craig Venter’s genome that was published in September, 2007.


Who and what should you follow to know everything about personalized medicine?

Personalized Genetics: The User Aspect

As personalized genetics is still rising, users start to write more and more posts about these genetic services. And this user aspect should and will play a major role in the future of genomic medicine.

Do not trust any genetic testing company that does not make it clear what genetic variants they are analyzing. Never let anyone take your DNA unless they are clear about what they plan to do with it, what information they will give you from the analysis, and what they’ll do with the DNA after all the testing is complete. You are the consumer. You have the right to choose and the right to say no.

  • Steve Murphy asks an interesting questions. So what if we have a 1000 USD genome? What would we have? I guess only one thing would change: we would have our genomes on a USB drive. That’s all. The medical aspect couldn’t change in such a short period of time. We still need years of research to be able to use properly that amount of genomic data.

While writing your answer in the comment section, listen to a presentation about Decision Making in the Genomic Era:

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


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