Personalized medicine: report of US President’s Advisory Committee November 15, 2008
Posted by Bertalan Meskó in Health, Medicine, Personalized medicine, Pharmacogenomics, genetics.add a comment
I’ve recently come across the newest US report on personalized medicine on the site of PHG Foundation. It’s definitely worth reading it.
The report explains some of the barriers preventing widespread adoption of personalised medicine such as ambiguous regulation, lack of translational research and limited coverage by health insurers, as well as potential mechanisms to overcome them.
Much of the report echoes and re-iterates the PHG Foundation’s findings in relation to the evaluation of genetic tests and molecular biomarkers, which is an area of ongoing focus at national and international levels. With more diagnostic tests becoming available all the time, it is becoming increasingly important to produce appropriate mechanisms to assess and evaluate them, to distinguish between clinically useful and redundant tools, and to understand their possible impact on clinical practice.
Week of Personalized Genetics November 7, 2008
Posted by Bertalan Meskó in Personalized medicine.add a comment
I’m so glad to see the new Nature issue that is full of articles focusing on personalized genomics. It will take a whole weekend to read all of the articles.
- My genome. So what?
- How to get the most from a gene test
- Personal Genomes: When consent gets in the way
- Personal genomes: Misdirected precaution
- Personal genomes: The case of the missing heritability
- Personal genomes: A disruptive personality, disrupted
- Human genetics: Individual genomes diversify p49
(Hat tip: The Genetic Genealogist)
Personalized Health Care National Conference October 14, 2008
Posted by Bertalan Meskó in Health, Healthcare, Medicine, Personalized medicine.add a comment
I wanted to let you know the Ohio State University Medical Center is hosting it’s first conference on personalized health care this week (October 16-17). It seems to be quite an interesting event so I hope we will get some live coverage from there.
A national conference focusing on topics ranging from research in personalized medicine to clinical applications in patient care. It features internationally renowned speakers in personalized medicine, as well as panel discussions by experts from academia, industry, government and non-profit organizations.
Speakers will include Linda Avey (23andMe, Inc.), Geoffrey Ginsburg (Director, Center of Genomic Medicine,
Duke Institute) or Lawrence Lesko (Director, Office of Clinical Pharmacology, Food and Drug Administration).
HelixGene Foundation: THE Genomic Resource September 27, 2008
Posted by Bertalan Meskó in Education, Medicine, Personalized medicine, Web 2.0, genetics, science.3 comments
Steve Murphy, our gene sherpa and the clinical genetics fellow at Yale University, came up with something great again. The Helix Foundation is up and running now.
Friends……we have a big problem when the people who are supposed to be implementing genetics get their information from an unreliable news media. Why are they unreliable? They like everyone else are expected to do more with less…..thus fact checking has become a thing of the past…
Together with Drew Yates, we are creating a community to fact check genetics reporting. It is called HelixGene Foundation……Thursday we will have sent an email to over 1000 genetics professionals inviting them to join our community.
They are so right! When you hear about articles mentioning scientists who just found the gene of obesity or intelligence, physicians tend to trust this kind of information. Now hopefully, they will have a fantastic source to rely on.
The first step is giving more details about the misinformation regarding Sergey Brin’s risk for Parkinson’s disease. I believe that one was a marketing trick, nothing more. Other bloggers seem to agree with me on this:
I found one blog on WordPress.com that I found to hold some validity. The blog was originally posted on http://scienceroll.com/, a medical student’s blogging site to discuss medicine and genetics using Web 2.0 tools.
This blog did not receive an outrageous amount of press attention. There were no books written about it or guest spots for the author on any late night talk shows. However, his well organized, logical posting did expose the Google founder as a man who misinterpreted genetic data to gain media attention for his wife’s cause. If more blogs could be this rational and fact based, blogs may be accepted as a legitimate source of information and more credit could be given to the amateur.
Google Founder, Parkinson’s Disease and Good Marketing? September 23, 2008
Posted by Bertalan Meskó in Google, Health, Medicine, Personalized medicine, genetics.6 comments
Sergey Brin, the co-founder of Google, wrote about his genetic predisposition for Parkinson’s Disease on his personal blog. Of course, he shared information from his 23andMe account, what else. His wife, Anne Wojcicki is the co-founder of 23andMe, a personalized genetic company.
Because there are only a small number of genes which are known to have a very substantial effect on health (e.g. 10 times the average risk), I felt the possibility of discovering something very important to my health was just a hypothetical exercise. So, when my wife asked me to look up G2019S in my raw data (23andMe scientists had had the forethought to include it on their chip), I viewed it mostly as entertainment.
But, of course, I learned something very important to me — I carry the G2019S mutation and when my mother checked her account, she saw she carries it too.
Well, he didn’t analyze properly his genetic results as Steve Murphy, our gene sherpa and the clinical genetics fellow at Yale, pointed out some days ago. First, the gene Brin mentioned (LRRK2) is not the most important gene in the story of Parkinson’s and second, his risk cannot be 80%. According to Steve:
Parkinson Disease affects approximately 1% of the population by age 65% and 4 to 5% by age 85 years. Therefore the lifetime risk is 2-5%. So a 1.2 to 2.1 Odds ratio would be 4% to 10% roughly. Not 80%!
LRRK2 is not one those genes that increases your risk by tenfold…
LRRK2 mutation accounts for 5 to 6% of familial PD and 1-2% of sporadic PD. Not exactly what I would call useful for a screening test. Mind you this is given for North Americans and Europeans.
Kevin Fischer had some comments about it as well.
Why was it a fantastic marketing trick?
- Now everybody is talking about it and the misinterpretation of his genetic data.
- 23andMe is getting a huge media attention.
Which means Brin is a good husband and knows how to promote her wife’s service efficiently.
600$? September 11, 2008
Posted by Bertalan Meskó in 23andMe, Genetic testing, Medicine, Personalized medicine, genetics.3 comments
My dear friends, I told you before… You just lost 600$ for being less patient than us. 23andme lowered the price of their service from 999$ to 399$. Even if I still think it’s not worth it, more patients will get access to their genetic background because of the lower barriers. An excerpt from the New York Times report:
The move might touch off a price war in the nascent business. The company’s main competitors, Navigenics and deCODE Genetics, charge about $2,500 and $1,000, respectively.
Mari Baker, chief executive of Navigenics, said the company would not be reactive to what its competitor did, saying that “cheapest wasn’t always best.” She expressed some surprise at 23andMe’s new price, saying, “I know what our costs are. They are many times greater than that.”
Read more about it on the blog of Steve Murphy, our gene sherpa.
Gene Genie 34: Summertime July 20, 2008
Posted by Bertalan Meskó in Blog Carnival, DNA, Gene, Gene Genie, Genetic testing, Medicine, Personalized medicine, Pharmacogenomics, Wiki, genetics, science.6 comments
This is the first time I host Gene Genie since January. Gene Genie is the blog carnival of clinical genetics and personalized medicine. Enjoy the numerous posts and articles focusing on these interesting fields of medicine.
Many thanks to Ricardo Vidal for the logo!
Gene - Phenotype:
Walter Jessen at Highlight HEALTH had a great post, Neurofibromatosis: From Genes to Complications to Treatments.
On Science Blog, you can read more about women’s genes and alcoholism.
Daniel MacArthur at Genetic Future presented the adventure gene.
Steve Murphy, our Gene Sherpa, informed us about a new gene in atrial fibrillation.
Rebecca Taylor at Mary Meets Dolly talked about a lesson in genetic testing: the I148T mutation.
said Rett Syndrome was on Fox Show.
Yann Klimentidis analyzed some skin cancer and pigmentation genetic variants.
Chavonne Jones at Human Genetics Disorders posted an article and a video about Marfan Syndrome.
Genetic Testing:
Aaron Rowe at Wired listed 10 reasons why regulators should not hinder genetic testing.
The DNA Testing Blog talked about DNA testing for members of the military.
Personalized Medicine:
Jason Bobe at The Personal Genome shared the Wired article of Thomas Goetz with us.
Andrew Yates at Think Gene reviewed the deCODEme Genome Browser.
A Forum for Improving Drug Safety featured genetic influence in antidepressant effectiveness.
At Genetic Future, you can read more about the challenges of psychiatric genetics.
Yann Klimentidis analyzed structure-informative SNPs among European Americans.
Deepak Singh at BBGM said thinks your SNPs are your information.
The question at Genomeboy is to sink or to swim.
Dr. Eric Topol introduces the Genomic Medicine Resource Center with a discussion of personal genomics.
Wikis and Else:
Larry Moran at Sandwalk presented a Gene Wiki. Check the comments out as well.
According to Wired, Genes Don’t Explain African AIDS Epidemic.
Evolgen tried to help us answer the question, how many genes we share with our twentieth cousin.
The 35th issue of Gene Genie will be hosted on the 3rd of August. Don’t forget to submit your articles via the official page.
And also check the Gene Genie official blog out! If you’d like to host an edition, don’t hesitate to contact me at berci.mesko [at] gmail.com.
Personalized Medicine in Video July 16, 2008
Posted by Bertalan Meskó in Personalized medicine, Video.add a comment
Deanna Kroetz of UCSF’s School of Pharmacy talks about the promise and the limitations of personalized medicine.
(Hat tip: Medical Quack)
Further reading:
























