???

Has stardoll gone crazy? there was also a spoiler of a knome lol and a tatty green sofa

Lel1996

xoxoxo

This week saw the introduction of what I believe is Canada’s first personal genomics service offering.  Toronto’s Medcan Clinic paired up with California-based Navigenics to scan individuals’ genomes for a variety of disease markers.

Personal genomics is a burgeoning trend this year, which according to a special report in April’s Economist, will only be further boosted by a Moore’s Law-type improvement in sequencing power and price.  Available service offerings range from whole genome sequencing (e.g., Illumina and Knome) that costs tens of thousands of dollars to targeted scans typically offered for under $500 by a much wider variety of providers (Navigenics, 23andMe, deCODE and Pathway Genomics).

Regulation of DTC Testing:

In the U.S., the regulatory environment has settled down somewhat over the last 6 months, with most U.S. states regulating DTC genetics companies as clinical labs and the providers registering as such on a regular basis, including CLIA certification.  However, the HHS Secretary’s Advisory Committee on Genetics, Health and Society is due to meet in October to further discuss whether DTC genetic tests should be regulated as medical devices.  The CDC has released a report entitled “Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions” setting out best practices both for testing and interpretation.

In Ontario, there are a number of regulatory considerations (thanks on these points for input from Will Chung, of our renowned Life Sciences team):

1. Private labs and specimen collection centres require licenses and are governed by the Laboratory and Specimen Collection Centre Licensing Act (LSCCLA). However, blood collection at such facilities is governed by separate legislation which controls who may draw blood and for what purpose.
2. The LSCCLA requires that only “legally qualified medical practitioners” are permitted to examine specimens, which means that patients may not directly order testing of their own blood at private licensed labs.
3. Ontario’s Regulated Health Professions Act stipulates that communicating a “diagnosis” is a “controlled act” which may only be performed by a person authorized by a health profession Act, although it is not clear that DTC genomics results are a “diagnosis.”

Medscan seems to have navigated the regulatory waters, but time will tell how these laws are applied and/or modified.

In the EU, the European Society for Human Genetics advocates for pre-market review for “truthful labeling and promotion” as well as post-market evaluation of DTC genetic tests. In May, Germany passed a law restricting the availability of DTC genomics services by requiring testing to be carried out by a licensed doctor following the patient’s consent.”

How much protection do consumers need?

Many commentators are concerned with the public’s ability to understand these tests and distinguish between those that are clinically meaningful and those that are more … snake-oily.  Others object on the basis that there is little value added absent any available treatment — many preventive measures are things we already know we should do, like eat well, exercise, etc.  A number of groups, including advocacy group Genetic Alliance and the Genetics and Public Policy Center at Johns Hopkins University have called for a national registry of DTC genetic tests that would include performance data.

Others (and not just 23andMe’s founders) take a more libertarian view.  Ronald Bailey, the science columnist at Reason, agrees that people probably don’t need to be “protected against learning such information without the guidance of a knowledgeable physician or genetic counselor.”  In fact, a lawsuit in May brought by a girl born with Fragile X syndrome against the sperm bank that didn’t test for the predisposition may drive  higher demand for genetic testing in the fertility context which may in turn drive supply of services and diagnostic tools and may contribute to normalizing broader parental testing and pre-implantation screening.

Interestingly, a NEJM report a couple of weeks ago showed no lasting psychological damage from a genetic prognosis of increased Alzheimer’s risk.  By the time a year passed after the results, subjects who had an increased Alzheimer’s risk were no more depressed, anxious, or distressed than when they started the study.

Most importantly, 98% of patients in the Alzheimer’s study who tested positive said they would still get tested if offered the choice again.  98% is a lot. It suggests that DTC services will be increasingly popular, particularly as the price drops and the quality of the data, the analytics and the available counseling continue to improve.

Stay tuned to this page for further DTC genetics news and analysis.

The genome of a Hereford cow, L1 Dominette 01449, was sequenced by the Bovine Sequencing and Analysis Consortium, less than two years after J. Craig Venter’s team reported the sequence of Dr. Venter’s genome in September 2007.  The Bovine sequencing papers are in this week’s issue of Science, along with a podcast interview with the lead P.I.

Dare we compare (phenotypes)?

J. Craig Venter

L1 Dominette 01449

 
By the way, if you’re feeling jealous, don’t. You too can join the fun. Knome is auctioning an opportunity to have your genome sequenced. The starting bid on eBay is $68,000.

What a hectic May. We took possession April 30th (or rather May 1) at 3am. From that moment on it has been a whirlwind. The 9 days where spent cleaning. The we did some painting, some minor repairs. Followed by most of the moving. In the middle of it all my Boo’ssister (twin) was hospitalized with Toxemia and had to have h er baby 7 weeks early. We were scared for her, pulling for her and trying to be supportive in any way that her or her husband needed us to be. It’s been 4 days since she had our little Niece an mom and baby are doing amazing. We got to see the adorable little princess last night and she is perfect.

Helix Health, une société de conseil en génétique et médecine personnalisée, passe en revue sur son site web quatre sociétés pionnières de la génétique en ligne : 23andMe, Navigenics, deCODE & Knome.

On retiendra qu’en terme de technologie, 23andMe, Navigenics, deCODE proposent des prestations plus ou moins équivalentes.

De son côté, Knome se situe sur un créneau à part : là où les trois autres proposent du génotypage basé sur l’identification des SNP’s, Knome annonce le séquençage complet du génome, avec un coût de prestation annoncé à 350.000$ ! (Knome recherche 20 beta testeurs d’ailleurs).

Une des questions à se poser une fois les résultats disponibles est “et maintenant que faire de ces données ?”.
Les approches divergent également sur ce point : Navigenics et Knome proposent les services d’un généticien pour aider l’utilisateur à interpréter et tirer les conséquences des résultats, tandis que 23andme et deCODE ne fournissent pas plus de conseil au final.

Des comparaisons bien utiles pour se faire sa propre idée sur cette industrie émergente.

Posts précédents sur le même sujet :

• génétique en ligne une web industrie en plein essor

• 23andme (and me, and me, and me…)

Crédit photo : sequence, originally uploaded by freakpower.

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?

• Genome Technology Online
• Steve Murphy
• Hsien-Hsien Lei
• Personalized Medicine Coalition
• PHG Foundation
• Future Medicine
• Genetic Future
• and of course…Scienceroll

After the big news of 23andMe, Knome has to say something as well. But let Ari Kiirikki, the Vice President, to explain it all:

Knome and the Beijing Genomics Institute (BGI), announced today that they have initiated the process to sequence the entire enomes of two private individuals. These clients are expected to be the first individuals
in the world to have their genome sequenced by a personal genomics firm.

“We are very happy to be underway with our first clients,” said Ari Kiirikki, vice president of sales and business development at Knome. “At this time, both clients have chosen to remain anonymous. As part of our service, we have developed a variety of processes and tools designed to keep their genomic identity private and secure. If they choose to release their identity or share their genetic code, it will be on their own terms.”

Anyway, if you choose Knome, you retain full ownership and control over your personal genome so you decide whether to share all or portions of your genome with scientists and other medical professionals.
It’s getting harder and harder to keep up with the improvements of personalized genetics.

Last year around this time, Dennis and I had so much fun making up Gnome titles.  (You know things like…”I’ll be Gnome for Christmas”, “Gnome Alone”, “Gnominator” – song titles, movie titles, etc).  I found this so I had to post it for him.  Merry Christmas Babe!

 For more cute doggie pictures check out http://ihasahotdog.com/

That’ the number of the year for me. This is the price the 20 first clients of Knome will pay for the sequencing of their genome, including whole-genome sequencing and a comprehensive analysis from a team of leading geneticists, clinicians and bioinformaticians. This team will also provide continued support and counseling.

Unfortunately I don’t have the money to spend on that. I would be glad to have a CD with my genome to play with. But I do understand that this is quite expensive to be on the list of Santa Klaus. Or isn’t it?

I’m on the optimistic camp, for once, expecting more benefits from several genomes sequences available then problems with insurance companies.

I’ll have to wait ’til the price drop dramatically to fit my capacity. Or try to find the money somehow. Or be a volunteer for Venter’s 10k genomes effort.