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Posts from the ‘Pharmacogenomics’ Category

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]

FDA Approves Genetic Test for Breast Cancer

Great news for those who are interested in personalized medicine. One of the first examples of this special field of medicine was the potential use of Herceptin in breast cancer. Now the U.S. Food and Drug Administration approved a genetic test for determining whether patients can be treated with the drug Herceptin (trastuzumab).

The SPOT-Light HER2 CISH kit is a test that measures the number of copies of the HER2 gene in tumor tissue.

A healthy breast cell has two copies of the HER2 gene, which sends a signal to cells, telling them when to grow, divide and make repairs. Patients with breast cancer may have more copies of this HER2 gene, prompting them to overproduce HER2 protein so that more signals are sent to breast cells. As a result, the cells grow and divide much too quickly.

The SPOT-Light test counts the number of HER2 genes in a small sample of removed tumor. The removed piece is stained with a chemical that causes any HER2 genes in the sample to change color.

Patients who over-produce HER2 protein are typically treated with the drug Herceptin, which targets HER2 protein production. This helps to stop the growth of HER2 cancer cells.

Of course, patients with normal HER2 genes are not the best candidates for Herceptin therapy. So this test is not only useful for the patients but makes the whole process cost-effective as well (a full course of treatment costs about 70 000 US dollars).

That is personalized medicine…

More about personalized medicine:

The Latest Issue of Future Medicine

Future Medicine is the only journal dedicated totally to personalized medicine. I share the table of contents and some interesting excerpts from the latest issue with you (some of the articles are free to access, some are not):

If pharmacogenomics is to reach primary-care clinical practice, the genetic knowledge, skills and attitudes of professionals have to be improved at both undergraduate and postgraduate level. A recent report has stressed the need for genetic education to infiltrate all aspects of healthcare, from undergraduate to continuing professional development for all healthcare practitioners.

The lack of adequate counseling and consequent misunderstanding of test results could lead to confusion and apprehension regarding results. Genetic results for common complex disorders are complicated by the fact that they are probabilistic in nature, and must be interpreted in the context of family history, present health status and other environmental conditions. Consumers who obtain a test revealing a form of increased risk may overestimate the risk they have of developing disease and this may cause undue stress and anxiety and unnecessary follow-up tests or treatments.

Final report on pharmacogenomics

If we have evidence-based web 2.0, we need evidence-based pharmacogenomics as well. That is why I try to create a database of real clinical implications. The final report on pharmacogenomics released by US Advisory Committee is a must-read for medical professionals. Some excerpts:

PGx has drawn great attention for its potential to redirect personal care and public health paradigms in the United States and abroad. It has begun to offer powerful tools for using information about individual genetic variations and drug responses to “personalize” or “customize” health care decisions. Some early applications of PGx include HER2/neu testing of metastatic breast cancer patients to determine responsiveness to Herceptin®, the use of thiopurine 6-mercaptopurine testing to manage the treatment of children with acute lymphoblastic leukemia, and the use of CYP2C9 and VKORC1 testing of those at risk for harmful blood clots to guide warfarin dosage.

PGx has the potential to improve management of chronic diseases, which pose the greatest clinical and economic burdens in the United States and elsewhere. The current therapeutic approach for these diseases is to slow their progression and diminish their symptoms. PGx may help improve symptoms and reduce health care costs through more effective treatments and fewer avoidable ADRs. However, PGx also could increase costs if drugs for smaller markets are priced higher to recoup research and development costs or if PGx testing is added to the cost of drug treatment.

Further reading:


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