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Posts from the ‘Pharmacogenomics’ Category

Personalized Genomics in the News

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.

DNATwist: Teaching Students About Pharmacogenomics

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.

Personalized Medicine:A new clinical example

Today I wrote about the issue of genetic testing and warfarin management. And now here is a new article focusing on personalized therapy in lung cancer. Adi F. Gazdar published his thoughts in the New England Journal of Medicine.

Successful examples of targeted therapy include imatinib for the treatment of BCR-ABL–positive chronic myeloid leukemia and the reversible tyrosine kinase inhibitors, erlotinib and gefitinib, for blocking the gene that encodes epidermal growth factor receptor (EGFR) in subgroups of patients with non–small-cell lung cancer.

Overall, the rate of survival of patients carrying an EGFR mutation who were treated with the tyrosine kinase inhibitor was relatively high, as compared with that of historical control subjects who were treated with chemotherapy.

We should be prepared for a lot of similar examples in different fields of medicine in the next few years.

Warfarin Pharmacogenetics in Clinical Practice?

One-third of patients receiving warfarin metabolize it differently and experience a higher risk of bleeding. Research has shown that some of the unexpected response to warfarin depends on variants of two genes, CYP2C9 and VKORC1. The FDA has suggested that these markers should be used to determine the minimal starting dose of Coumadin (warfarin); because patients with variations in these markers may require a smaller dose of Coumadin than those with the normal marker.

“Should We Be Applying Warfarin Pharmacogenetics to Clinical Practice? No, Not Now” is an article Michael H. Rosove, MD, and Wayne W. Grody, MD, PhD published in the Annals of Internal Medicine (subscription needed). What I would like to highlight is the list of key points.

Certain single-nucleotide polymorphisms of the cytochrome P450 CYP2C9 and vitamin K epoxide reductase complex subunit 1 (VKORC1) genes influence warfarin metabolism and sensitivity.

The U.S. Food and Drug Administration has modified warfarin labeling to suggest, but not mandate, consideration of pharmacogenetic testing of these genes; the test is now commercially available.

Testing predicts only about one third of all dosing variations.

The value and cost-effectiveness of genetic testing to reduce bleeding or thrombosis rates remain unknown.

Consideration of clinical factors that influence dosing, conscientious prothrombin time monitoring, and sage dosage adjustment remain extremely important in warfarin management.

Further study is required before routine warfarin pharmacogenetic testing can be recommended.

Personalized Medicine: Genetic Tests for Drugs

  • This page catalogues drugs with pharmacogenomic information in the context of FDA-approved drug labels and lists drugs with mounting pharmacogenomic evidence.

Promethease is a tool to build a report based on SNPedia and a file of genotypes. Customers of testing services (23andMe, deCODEme, Navigenics, …) can use it to learn more about their DNA. It can also pool the data from multiple testing services. The program runs for approximately 2 hours. If you make an optional $2 payment via the program runs faster.

Actually, I cannot download my genomic data from Navigenics, but will be able to do so after the summer. Anyway, the results can be interpreted as follows:


But if your mother died of a heart attack, or your father has colon polyps, as mine does, it’s pretty clear what the indications are. Genomes themselves give you only—with a few exceptions—percentages. So, it’s not like you put this information up and people are going to stick pins into it. I actually was expecting more medical spam about, you know, “We looked at your genome. You should buy such and such nutri-ceutical.” What will be exciting is when you have hundreds of thousands of these and you say, “Oh, wow. They’re these five genes that seem to interact.” Most things are not a gene. It’s usually a lot of different genes—and then, combined with what you eat and whether you sleep enough and whether you stay warm enough and all these other things—that actually produce a real outcome in a person of being in such and such condition.

Further reading:

What is Pharmacogenomics?

My good friend, Chavonne Jones at shared a great video with us that focuses on describing the main concept of pharmacogenomics. Read more about this interesting field here.

Genome Medicine: New Journal from Biomed Central

I added Genome Medicine Journal to the new free medical information tracking tool of Webicina, PeRSSonalized Medicine yesterday so it’s time to say a few words about it.

Genome Medicine is an online peer-reviewed journal which publishes open access research articles of outstanding quality in all areas of medicine studied from a genomic or post-genomic perspective. The journal will have a special focus on the latest technologies and findings that impact on the understanding and management of human health and disease.

In addition to publishing high-quality research, Genome Medicine serves the international research community as a forum for the discussion and critical review of information about all areas of medicine informed by genomic research.

Subjects include, but are not limited to:

  • Significant advances in the understanding of the genetics, genomics, and epigenetics of disease
  • Computational and systems approaches, including proteomics, metabolomics and transcriptomics, to the understanding and management of disease
  • Genomic epidemiology and public health genomics
  • The application of genomic and post-genomic technologies to clinical practice, with special emphasis on diagnostics and therapeutics
  • Personalized medicine
  • Ethical, social and legal issues relating to genomic medicine and personalized medicine


This is the journal that provides content I feel totally close to my heart. So why you should follow it? It has an illustrious editorial board and some incredibly interesting articles such as:

Just to mention a few examples.

Here is the RSS feed of the latest articles.

Navigenics Interview: Annual Insight

In my post about the predictions for 2009 in genomics, I said Navigenics would rule the market even if its service was more expensive than the kit of 23andMe. Now I had a chance to do an interview about the scientific background of the service and I have already sent my saliva sample back to their lab so the results should arrive soon.

Now, they came up with a totally new website, a new product and a lower price (read the press release). I’m always saying such genetic tests should be ordered by physicians. Well, here is an excerpt from the press release:

Accessible through Navigenics’ website, the secure portal empowers physicians with a suite of tools including a single access point to all of their participating patients’ genomic information, along with learning tools and case studies for integrating genomic information into their clinical practice.

I believe that was a crucial step to make.


1. There are more and more companies offering direct-to-consumer DNA testing. How does Navigenics try to make a difference?

  • Navigenics focuses exclusively on providing genetic information for health conditions – all of which can be delayed, prevented or diagnosed early.
  • We offer two DNA testing experiences that provide different levels of premium analysis and service to best meet your needs. With both, you’ll get relevant health information and the support to help you share your results with your doctor effectively.
  • We are the only personalized genetic testing company that provides the support of board-certified genetic
  • ounselors, to help you understand your results and take action.
  • We use only government-certified laboratories.
  • Our results are based on science of the highest possible caliber. We only report on genetic markers that have met stringent criteria developed by our team of Ph.D. geneticists.
  • Privacy is our priority. Your results are kept private and secure, so the only person who has access to your results is you.
  • Navigenics is committed to research and we serve as a leader and collaborator to advance the science of genetics. We collaborate with some of the best medical institutions in the world.

2. So far, the terms of service of Navigenics have stated the results shouldn’t be used for healthcare decisions. Will it change in the near future?

Our Terms and Conditions indicate that our services are not intended to substitute for professional medical advice, diagnosis or treatment, and we have always encouraged customers to work with their physician before taking any steps after receiving their Navigenics results. As our service offerings evolve and more physicians incorporate our services into their practice, we will consider whether that necessitates any changes or clarifications to our Terms and Conditions of service .

3. The new Annual Insight provides a genetic check up for 9 common medical conditions. Personalized genetic services usually analyze more than 20 conditions. What is the reason behind the decision to analyze only 9?

The Navigenics Annual Insight service offers a highly focused snapshot of your genetic predisposition to nine select health conditions. We use a customized test for each marker in order to gather 100% of the genetic information needed to give you a highly targeted analysis of your risk information for those health conditions . By focusing on 10 common conditions, you get a targeted look at some of the most common causes of disease and disability in the U.S. today.

4. What is the genetic background of the analysis? Do you use SNP chips to determine personal risks?

I have attached a detailed white paper that addresses this – please review and let me know if you have further questions. (Access to the pdf file: Applying Preventive Genomic Medicine in Clinical Practice)

5. How accurate do you think SNP analysis is nowadays? Of course, as science is moving forward, it can change, but do you think patients understand the scientific background? Can they make health decisions based on SNP studies?

Again, we encourage our customers to work with their physician before making any changes in their healthcare strategy after they receive their Navigenics results.

6. Are you open to use the tools of telemedicine or patients will have to meet genetic counselors in person? How do you ensure security?

Currently our genetic counseling sessions are conducted by phone. We have found this to be an effective and convenient means of providing professional support to those who engage in our testing services.

Navigenics adheres to rigid security standards throughout the genetic testing process. All of our Genetic Counselors are board-certified professionals who adhere to a code of ethics that includes maintaining the highest levels of privacy and confidentiality.

Navigenics is committed to protecting your privacy. You own your genetic data, and it is our responsibility to safeguard your genetic information. Using the most advanced data protection systems available, we:

  • Anonymize all member profiles to assure data security
  • Capture the minimum account information necessary for transactions.
  • Encrypt all your personal genomic data
  • Generate your genetic risk assessment reports on demand so they exist only as you view them
  • Maintain multiple layers of physical and electronic security measures.
  • Constantly monitor all relevant processes to ensure your genetic test results are not compromised
  • Have our operational, infrastructure and applications procedures independently audited.
  • Have a sophisticated customer identification process and authenticate all transactions.

Thank you for the answers!

What I especially liked on the new portal is the Genetic testing: Myths and truths section.


What do you think? Could Navigenics make the important steps regarding lower prices and more serious physician involvement?

Personalized medicine: report of US President’s Advisory Committee

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.


Gene Genie 34: Summertime

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]


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