I would like to share three papers, articles that focus on the personalized genomics market with you. Almost 3 years ago, I wrote about that FDA had suggested two genetic markers to be used to determine the minimal starting dose of Coumadin. Later, in a paper, Rosove et al. said that “The value and cost-effectiveness of genetic testing to reduce bleeding or thrombosis rates remain unknown.”
Well, now it seems there is the answer.
Patients who received a test of two genes connected to warfarin sensitivity were 28 percent less likely to be hospitalized for a bleeding episode or blood clot than those whose safe and effective warfarin dosing was determined by traditional trial and error method.
Also researchers have provided the first published example of genome-scale RNA and DNA sequencing of a tumour to aid in clinical decision making and therapeutic choice.
“Utilizing a complete map of the molecular changes within a tumour in a clinical setting represents a world first in the application of this technology,” says Dr. Steven Jones, associate director of the Genome Sciences Centre and professor, Simon Fraser University. “It ushers in the era of personalized medicine in oncology, whereby therapies will be tailored precisely to the genetic make-up of the tumour. I anticipate that in the not too distant future nearly all patient tumours will be characterized in this way as a matter of course.”
And Health Populi reported a very interesting correlation between DTC ads, genetic pre-disposition, and healthy decisions:
A team of researchers now finds that DTC can play an important, positive role in motivating health consumers to adopt healthy behaviors. “The intention to engage in healthy lifestyles was strengthened by exposure to familial risk cues in DTC ads and this effect was mediated through enhanced efficacy to take healthy actions,” the paper concludes. Familial risk cues engendered positive self-efficacy.
One of my favourite blogs, Spoonful of Medicine, just posted a great video which shows that mutations in E. coli bacteria can be tracked in real time. The method was published in Current Biology.
The key to this approach is using a fluorescent-labeled derivative of MutL, a protein involved in DNA mismatch repair. The accumulation of this fluorescent protein signals the occurrence of a mutation in a population of replicating E. coli bacteria. Even more significantly, this method allows the visualization of mutations that do not result in recognizable phenotypes. That means that it could be used to alert researchers to DNA errors they are not even looking for. The video below shows 180 minutes of E.coli growth compressed to 12 seconds:
- DNA As Crystal Ball: Buyer Beware (Newsweek): A genome-wide association study identified a new gene variant associated with Alzheimer’s disease but it turned out clinically it’s not useful.
“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.
- 23andme: A detailed review of the data the blogger just received from 23andMe.
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:
Berlin et al. published a very interesting paper in Clinical Pharmacology and Therapeutics about DNATwist which is an online tool for teaching middle and high school students about pharmacogenomics.
DNATwist is a Web-based learning tool that explains pharmacogenomics concepts to middle- and high-school students. Its features include (i) a focus on drug responses of interest to teenagers (e.g., alcohol intolerance), (ii) reusable graphical interfaces that reduce extension costs, and (iii) explanations of molecular and cellular drug responses. In testing, students found the tool and topic understandable and engaging. The tool is being modified for use at the Tech Museum of Innovation in California.
I couldn’t believe what I read in the newest CNN headline. Let’s see what happened:
At the Chongqing Children’s Palace, experts are hoping to revolutionize child-rearing with the help of science. About 30 children aged 3 to 12 years old and their parents are participating in a new program that uses DNA testing to identify genetic gifts and predict the future.
The test is conducted by the Shanghai Biochip Corporation. Scientists claim a simple saliva swab collects as many as 10,000 cells that enable them to isolate eleven different genes. By taking a closer look at the genetic codes, they say they can extract information about a child’s IQ, emotional control, focus, memory, athletic ability and more.
Let’s be clear here, they analyze 11 genes for 880$.
Not to determine, but to at least predict such features as IQ, focus, emotional control or height, you need to analyze not 11 but significantly more genes. And in such features, the envorinmental factors play a major role (sometimes bigger than genetics). So determining capablitities based on 11 genes is not hard, but impossible. From another point of view, even if you find many genes predicting the child will be tall, plus the environmental factors are positive as well, not all tall players are NBA stars.
I believe it was a clear advertisement of a Chinese biotechnology firm trying to prove that they can do the same thing as Navigenics or 23andMe.
So be skeptic when you read such headlines…
It seems today I serve as an aggregator but I also found 3 genetics-related articles that you might find interesting.
Aull is scouring her own genes in pursuit of a potentially lethal mutation that she may have inherited from her parents – and she has transformed her bedroom closet into a makeshift scientific laboratory to conduct the hunt.
The 23-year-old MIT graduate uses tools that fit neatly next to her shoe rack. There is a vintage thermal cycler she uses to alternately heat and cool snippets of DNA, a high-voltage power supply scored on eBay, and chemicals stored in the freezer in a box that had once held vegan “bacon” strips.
Once upon a time, researchers knew that DNA contained four nucleotides: A, T, C and G. Then they found a fifth. And now they’ve found a sixth.
The discovery helps to explain why species with very similar genetics can be so different. Humans and chimpanzees famously share 96 per cent of their DNA.
In 2002, Richard Lifton, a geneticist at Yale who specializes in genetic analysis of human outliers–people with extreme phenotypes–discovered that a mutation in a gene called LDL-related receptor protein 5 was responsible for the man’s high bone density, a condition shared by about half of his family.
April, 25 is officially the DNA Day when we write about DNA-relates issues. Yesterday, I was offline but now I would like to mention a few articles that focused on DNA on this important day.
In recognition of National DNA Day on April 25, the National Society of Genetic Counselors (NSGC) will be participating in several community outreach iniciatíva to promote the importance of knowing one’s family health history and consulting with a genetic counselor who can help answer questions about genetic testing.
Blogs about the DNA Day: