Jul 14
I’ve written about Curetogether.com several times (1, 2, 3, 4 and 5) since 2008 and it was quite an obvious step that 23andMe, the Google sponsored genomic company acquired them this week. It was obvious because Curetogether has a pro-active community while 23andMe wants to connect genomic changes to different phenotypes or even lifestyles.
Oct 2
Years ago, I wrote about how 23andMe analyzed someone’s genes for $999 (only a few gene variations were used for predicting disease risks). And now they offer exome sequencing for the same price.
What 23andMe is offering is to make people’s exomes available to them, and the DNA sequencer will go over their DNA 80 times (known as 80-fold coverage) to make sure that the genetic code is accurate. This is stunning because a year ago this would have cost ten times as much or more. 23andMe isn’t the first company to offer consumers exomes — that would be Knome, of Cambridge, Mass. — but still the low price is eye-popping. It’s also a lot more data than the DNA chips 23andMe has used up until now, which capture single-letter changes in genetic code scattered across the genome.
What is an exome? Your exome is the 50 million DNA bases of your genome containing the information necessary to encode all your proteins
While 23andMe brings down the price of consumer genetic tests and builds up relations with big pharma (doesn’t share individual data though), it seems the DTC genetic testing is neither accurate in predictions nor beneficial to individuals according to a study described on Medical News Today.
Working under the supervision of Associate Professor Cecile Janssens, together with researchers from Leiden, The Netherlands, and Boston, USA, Ms Kalf examined the risk predictions supplied by two large DTC companies, deCODEme (Iceland) and 23andMe (USA). They simulated genotype data for 100,000 individuals based on established genotype frequencies and then used the formulas and risk data provided by the companies to obtain predicted risks for eight common multi-factorial diseases – age-related macular degeneration (AMD), atrial fibrillation, celiac disease, Crohn’s disease, heart attack, prostate cancer, and Type 1 and Type 2 diabetes (T2D).
Although the predictive ability of the DTC tests in the study was moderate for all diseases, both companies assigned an increased risk to a substantial part of the group. Yet the risk of disease in this group was often not substantially higher than the risk in the rest of the population studied. For AMD, the disease with the highest predictive ability, both companies assumed that the risk in the population was around 8%. Of all subjects designated as having an increased risk, 16% using the 23andMe risk estimations and 19% using deCODEme’s estimations would develop AMD, compared to the 4% found in the rest of the population studied.
“Adding these genes to traditional risk factors, such as age and sex, does nothing to aid prediction” of whether someone will develop Alzheimer’s, she told me. “Knowing your genetic status will not help. We may still be in the Stone Age when it comes to gene-based prediction.”
The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three prominent DTC companies: 23andMe, Pathway Genomics and Navigenics.
The family said they received no medical counseling here and are making their own conclusions. One comment made is that the parents stated they will probably be using more pharmaceuticals, interesting.
A patient analyzes her own 23andMe data:
Jun 7
What we were all afraid of finally happened. 23andMe admitted that it swapped some samples in the lab. Even if these things happen in labs, it should really not happen in such a sensitive area. We, bloggers and geneticians, have been writing about how hard it is for patients to analyze and interprete their direct-to-consumer genetic results properly and how hard it is for this market to remain attractive despite all the criticisms. And now they swap samples. Daniel MacArthur at Genetic Future has a nice review about all the related articles and news.
For example, a mother posted her recent story on the 23andMe community:
Still upset I checked family inheritance and noticed my daughter shared with me, and then I checked my son’s. He was not a match for any of us. I checked his haplogroup’s and they were different from ours. I started screaming. A month before my son was born two local hospitals had baby switches. I panicked and I checked over and over. My kid’s were sitting at the computer because we all wanted to see the results. My son laughed but he looked upset. I called my sister in tears.
Here is the full 23andMe announcement:
We recently determined that a number of new 23andMe customer samples were incorrectly processed by our contracted lab. We want to clarify what happened with the sample errors, how it happened and what we’re doing to prevent it from happening again. Providing each and every one of our customers with accurate data is 23andMe’s number one priority, and we fully realize the gravity of this incident.
Up to 96 customers may have received and viewed data that was not their own. Upon learning of the mix-ups, we immediately identified all customers potentially affected, notified them of the problem and removed the data from their accounts. The lab is now concurrently conducting an investigation and re-processing the samples of the affected customers and their accurate results will be posted early next week. We expect the investigation will be complete over the next several days and we will provide further details when we have them.
We are currently putting additional procedures in place that will add an extra layer of safeguards to help assure that similar incidents do not occur in the future. We are deliberating on a process that would include removing manual steps at the lab, completely automating the sample analyses, and implementing further checks of the data before it gets loaded into customer accounts. Please be assured that our testing laboratory’s processes comply with strict professional, regulatory, and corporate quality assurance standards for ensuring that all laboratory test results are accurate. The laboratory will adopt corrective action as warranted based on the findings of the investigation.
The science behind 23andMe’s personal genetics service remains proven and sound. We recognize that this is a very serious issue and your trust is of the utmost importance. We hope that this helps clarify what has happened and what we are doing to prevent these problems in the future. Please contact me at khomenko@23andme.com if you have any further questions. We appreciate your comments and feedback.
I cannot wait to hear what you have to say, Steve!
Sep 15
If there is no proper genomic education in medical school, how can we expect medical professionals to be able to answer the genomic test related questions of their patients? There is still a solution (actually the easiest one is valuable post-graduate education). Let’s give them genomic tests and let them see themselves what kind of results they can receive. 23andMe now offers discounted genome scans to clinicians. Excerpts from a Times Online interview with Anne Wojcicki, co-founder of 23andme.
“Clearly we need to engage with physicians to help them to understand this information,” she said. “One of the things we’ve talked about is we’d love to get physicians comfortable with their own genomes first, have them understand what does it mean, explore the data, see what does it look like, and then go to work with their patients.
“I think that’s probably the way to do it. Physicians should be genotyped. We are talking about ways we could potentially do that. It’s important for physicians to understand what the experience is like; 23andMe is going to start putting more effort into educational material.”
Daniel MacArthur also mentioned the strange new outfit of the co-founders.Though, as I’ve previously reported, Linda Avey is leaving 23andMe.
(Via Genetic Future)
Sep 12
Here are a few interesting publications, articles, updates and news about personalized genetics.
I’ve decided that I’d like to focus my efforts on an area that is personally significant and will continue to have a huge impact on our healthcare system–Alzheimer’s disease. Effective today, I’m leaving 23andMe and have begun making plans for the creation of a foundation dedicated to the study of this disorder.
Conclusions: This first study to simultaneously examine autonomic nervous system genetics, the biomarker complexity, and mortality concludes: (1) ANS genetics and physiologic complexity are independently related to mortality; (2) Genetics and complexity add information over traditional acuity scoring (probability of survival); and (3) Simultaneous assessment of ANS physiology and genetics may yield novel research, diagnostic, and therapeutic opportunities in critical illness.
Sep 1
Three weeks ago Medcan started offering the Navigenics direct-to-consumer test coupled with a family history and a follow-up once the results are in. If you order the test directly from Navigenics you also get access to counsellors, but in a clinical setting the options to really expand and act on the relevant information become much greater.
According to Jill Davies only about 20% of those direct to Navigenics customers actually take the opportunity to follow up with the company and I found that somewhat surprising.
The false profile seems to be the fault of a software bug.
No harm was done, but the incident serves as a cautionary tale for personalised medicine. As we move towards a future in which readouts from our genomes will routinely be queried by computer systems to help doctors make important clinical decisions, similar glitches could cause prescribing errors – with patients being given drugs at the wrong dose, drugs that won’t work, or ones that could even trigger serious side effects in people with a particular genetic make-up.
Aug 9
Veteran Scienceroll readers may remember when 23andMe gave a presentation in Second Life at the Scifoo event organized by Jean-Claude Bradley and me. Click here to see the whole transcript.
Joanna Scott of Nature.com just published something interesting:
The next event in our regular series of events on Tuesdays in Second Life will be a presentation and discussion with Chia Hwu and Brian Naughton from personal genomics company 23andMe.
Title: 23andMe
Date: Tuesday 11th August, 10am PST / 1pm EST / 6pm BST
Speaker: Brian Naughton and Chia Hwu, 23andMe
Location: Nature Amphitheatre, Second Life
Contact: Joanna Wombat / j.scott@nature.com
I’ve found this video on Eye on DNA. Anne Wojcicki, co-founder of 23andMe, talks about Research Revolution, a new project of them.
