It’s a great pleasure for me to host Grand Rounds again after almost a year. The idea of Nick Genes shines more than ever so I hope I can show you plenty of useful and valuable submissions from the medical blogosphere. So this time, the topic is the future of medicine which means I’ll feature some blogposts about genetics and web 2.0 as medicine might be centered around these two terms in the future. Enjoy it!
Editor’s Choice (Genetics or Web 2.0):
Karina S. Descartin at The story of healing talked about Jay Parkinson, the web-savvy doctor and use of media in medicine.
Louise at Colorado Health Insurance Insider wrote: “A list of eight preventable medical errors that result in extra medical charges will no longer be reimbursed by Medicare”.
Laurie Edwards at AChronicDose hadarecent issue with her health insurance to explore preventative health and offer resources to think critically about the future of healthcare.
Michael C Hébert at Dr. Hébert’s Medical Gumbo pointed out the problem with Economics Stimulus Package is that, like taking antibiotics for a cold, it fails to properly address the problem.
Kenneth F Trofatter at Fruit of the Womb addresses a query from a reader who wonders if abnormal sperm morphology, in the absence of other maternal or paternal indicators, might be associated with recurrent early pregnancy loss.
David Bradley at ScienceBase is curious whether our doctor inhales or not. “A survey of medical students in Brazil found that more than 80% use alcohol, while cannabis use is limited to about one in four, a quarter use solvents and just over 25% use tobacco.”
That’s all for now. I always enjoy hosting Grand Rounds because I come across new blogs and make contact with great medical bloggers. Thank you, Nick Genes, for giving me the opportunity again. I hope to host a third one in 2009. The next edition will be hosted by ChronicBabe on the 4th of March.
When I decided some months ago to try to keep you up-to-date in the field of personalized genetics, I only could include 2-3 articles in an edition. Now it takes at least a half an hour to reduce the number to 10. So here are the latest and most interesting announcements about individualized medicine.
The world took another baby step toward personalized medicine today, as the FDA said people of Asian descent should be screened for a particular genetic variation before they take carbamazepine, a drug used to treat epilepsy and bipolar disorder.
One form of the gene, TCF7L2, is strongly linked to type 2 diabetes. Having two copies of TCF7L2 (one from each parent) doubles your risk of getting diabetes—that much is well established. But some researchers reckon that if you do not have any of the other risk factors for diabetes, your chance of getting the disease will be so low in the first place that this doubling is not worth knowing about.
Human Genome Rug at Art Basel Spinoff, Design Miami (Wired):
Photo Credit: Robyn Ross
Let’s finish today’s edition with the words of Larry Moran, a Professor in the Department of Biochemistry at the University of Toronto:
I still find it curious that there are “science bloggers” who promote these for-profit companies without ever mentioning the scam that they’re perpetrating by misleading the general public about what the tests can achieve. The kit from 23andMe costs $999.00 (US).
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.
Website:
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.
Service:
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.
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.)
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.
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…
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:
Website:
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.
Method: They’ll analyze your SNP patterns from your saliva sample. You’ll be able to read your genetic profile in the Gene journal, discover your origin in the Ancestry page and explore your raw genetics in the Genome Lab. See an interesting example about Type 2 Diabetes!
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.
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?
Even if I should study emergency medicine now, I would like to share interesting and useful links with you. Here are the most important articles, announcements of personalized genetics from the last few days. This edition focuses on breast cancer:
Pharmacogenomics Rising (The Gene Sherpa): LabCorp will study the role of polymoprhisms in cytochrome p450 2D6 and women’s response to breast cancer.
A cardinal rule in clinical cancer genetics is that you always want to do the genetic test on someone in the family who has had a cancer diagnosis that is suspicious for the risk syndrome that you are considering. If either of this woman’s aunts were alive, they would clearly be the best people to test first.
However, they both died of their disease. In the absence of other individuals with cancer to test, the patient’s healthy father would be the next best person to test.
Almost a decade later, this vision of personalised medicine has yet to become reality. People with hard-to-treat diseases like depression are still being prescribed drugs by trial and error. Adverse drug reactions are still one of the leading causes of death in the developed world.
Integrative Medicine and Experimental Pharmacogenomic Therapy in a Child with Niemann-Pick Disease (NPD), Type A (Slideshare.net)
We need to educate laypeople about their own health. It’s the responsibility of medical professionals to educate those who don’t know too much about their own health. Here is a good example:
Jauniaux E,Burton GJ. : Morphological and biological effects of maternal exposure to tobacco smoke on the feto-placental unit. Early Hum Dev. 2007 Sep 25;
Active and passive maternal smoking has a damaging effect in every trimester of human pregnancy. Cigarette smoke contains scores of toxins which exert a direct effect on the placental and fetal cell proliferation and differentiation and can explain the increased risk of miscarriage, fetal growth restriction (FGR) stillbirth, preterm birth and placental abruption reported by epidemiological studies.
Huuskonen P at al: Microarray Analysis of the Global Alterations in the Gene Expression in the Placentas From Cigarette-smoking Mothers. Clin Pharmacol Ther. 2007 Oct 10;
On the basis of our results, it seems that cigarette smoke acts as a hormone disrupter in the placenta.
I’ve told you how much I admire Hopelab, a non-profit organization, for several times. After the Re-Mission game which helps children fighting cancer, here is their new project, Ruckus Nation. This competition is about to find great ideas for new products that will get kids moving. They have already accepted many submissions as contestants range in age from 9 to 76, representing 43 countries and 40 U.S. states. You can register here.
According to their latest announcement:
Based on feedback from participants, the contestant registration deadline has been moved to November 20 to coincide with the deadline for submitting Ruckus Nation entries. The two separate deadlines were confusing to some people, so we’ve simplified things. The Ruckus Nation contestant registration deadline is now November 20, the same day as the deadline to submit your idea. All other deadlines are the same.
Key Dates and Deadlines:
November 5 – Early entry deadline
November 20 – Contestant registration closes, deadline for entries
November 27 – Judge registration closes
If you’re not entering as a contestant, you can become a judge as they’re looking for people of all ages, from a variety of backgrounds and with diverse expertise, to help them select the most promising product ideas.
Have I mentioned that you can win 75,000$?
Here’s a video of a Ruckus Nation promotion by a company called Reatrix which has partnered with HopeLab (pdf):
You should also check out the Physical Activity Research Summary which documents a lot of the research Hopelab did which led them to the path they’re on with Ruckus Nation and their ultimate goals for helping with childhood obesity.
I’ve already written a post about it, but this time Attila told me about an even more useful service, Justgiving.com, where I try to promote my mission more efficiently.
I know I’m not a Craig Venter, Misha Angrist or anybody else in the list of the 10 subjects of the Personal Genome Project (PGP) whose genomes will be sequenced and published, but as I plan to pledge my life to personalized genetics, I’d love to know more about my genetic destiny. So I’ve created this fundraising page to try to make my dream come true.
According to the PGP or Venter, the 1000$ genome is going to be reality somewhen in the next few years. I believe it’s not going to be so easy, that’s why some SNPs (Single nucleotide polymorphism) of mine would be enough to know about. I want to try to prevent some diseases I have elevated risk for (e.g. proper diet in case I have elevated risk for obesity or diabetes). And even I don’t say I would make my genome public, I would like to take part in constructing the future of personalized medicine like that.
Donating through this site is simple, fast and totally secure. It is also the most efficient way to sponsor me: Jeans For Genes Campaign will receive your money faster and, if you are a UK taxpayer, an extra 28% in tax will be added to your gift at no cost to you.
For those, who don’t understand my mission. The main points here are to raise awareness of personalized medicine and to grab the media’s attention. We need to discuss the issues of this emerging field of medicine and try to answer some crucial questions (Who could know about the data of my genome? Should my future employer of insurer know about it? Who owns the information of my DNA?) It means this is about education and discussion!