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Navigenics: What my genome tells me to do March 7, 2009

Posted by Dr. Bertalan Meskó in Biotechnology, DNA, e-patient, eHealth, Genetic testing, genetics, Genome, Health, Medicine, Personalized medicine, science, Web 2.0.
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20 comments

A few months ago, Navigenics.com offered me to analyze my saliva sample and genome. I happily accepted the offer and was curious to see what they could tell me. After graduating from medical school, I will start PhD training in personalized genetics this September so I’m quite into this emerging field of medicine.

navigenics-main-page2

I sent my saliva sample back to their laboratory this January and received the results in about 3-4 weeks.

navigenics-view-my-results1

I clicked on View my results and saw what kind of risks I have for certain medical conditions such as glaucoma, heart disease, prostate cancer, Crohn’s disease or osteoarthritis (9 conditions all together).

When I check one medical condition, I see something like that:

navigenics-results1

They tell me my risk compared to the whole population.

navigenics-risk

And how that medical condition is affected by environmental and genetic factors.

navigenics-all-risk

And if I’m interested in the particular single nucleotide polymorphism they analyzed, I can check the details.

navigenics-ratio

Pros:

  • The information this service provided me with was useful and I will change some things in my lifestyle.
  • I can talk with a genetic counselor to discuss the results of my genetic variations.
  • I can print the results and share it with my doctor through an understandable report that mentions the references on which they based my risk percentages.
  • They help me what I can do in order to lower my risks for specific conditions. They also let me know things that prevent multiple conditions on the Navigenics panels.
  • Each condition is covered in details (causes, symptoms, treatments, etc.). This information is powered by Mayo Clinic.
  • I can find support groups or more information on prevention.

Cons:

  • Let’s say 3 SNPs tell me I have elevated risk for heart disease. But next year, they will discover 4 new ones that defend me from this condition. So Navigenics, just like any other similar companies, can only tell me risk percentages that might change a lot in the future.
  • For example, if based on my genomic results, I have elevated risk for heart disease, what I can do to lower this risk? Exercises, healthy lifestyle, etc. Things you can tell me without analyzing my genome. Though it’s not the fault of the service, but of the state genetics is in at the moment.
  • It’s still way too expensive compared to what I get for my money as the results cannot really be used for medical decisions  (I got a free package so I know I shouldn’t say that).
  • Well, a few genetic tests can be useful when making medical decisions, but such tests should be ordered only by medical professionals. Or if not, at least genetic counseling should be for free as patients need serious guidance when reading the results of their genomic variations. (Update: Navigenics provides free genetic counseling for all Health Compass members and 1 hour of free counseling for all Insight members. And you can order the tests through a medical professional or on your own.)
  • I think I can handle many things but it was almost impossible for me to understand which documents I have to send back to the lab with my saliva sample. A step-by-step video tutorial would be useful.

I’m thankful to the Team of Navigenics.com for showing me how their service works in action. I’m impressed and looking forward to seeing how they can make their service even better.

Gene Genie #43 at Pharmamotion February 2, 2009

Posted by Dr. Bertalan Meskó in Blog Carnival, Blogging, Gene Genie, genetics, Web 2.0.
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The  43rd edition is up at Pharmamotion. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Flavio Guzman, for hosting Gene Genie.

Gene Genie is the blog carnival of genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). We accept articles on the news of genomics and clinical genetics. The news and articles of personalized genetics are also included. Check out Gene Genie for more about this unique field of medicine.

gene_genie_logo_400.jpg
Many thanks to Ricardo Vidal for the logo!

Don’t forget to submit your articles via e-mail (berci.mesko at gmail.com).

Let me know if you would like to host an edition.

Here are all the issues of Gene genie:

Top 50 Genetics Blogs January 30, 2009

Posted by Dr. Bertalan Meskó in Blogging, genetics, List.
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2 comments

Jessica Merritt has recently come up with a huge list of quality blogs dedicated to genetics. Check it out at US PharmD. I’m honored to be included in the list.

If you’re looking for another great genetics blogs, follow the members of the DNA Network.

The DNA Network logo

Image credit: Ricardo Vidal, My Biotech Life

Navigenics Interview: Annual Insight January 28, 2009

Posted by Dr. Bertalan Meskó in Genetic testing, genetics, Genome, Innovation, Medicine, Personalized medicine, Pharmacogenomics, science, Web 2.0.
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4 comments

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.

navigenics1

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.

navigenics2

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

Gene Genie #42 at Genetic Future January 19, 2009

Posted by Dr. Bertalan Meskó in Blog Carnival, Gene Genie, genetics.
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The  42nd edition is up at Genetic Future. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Daniel MacArthur, for hosting Gene Genie.

Gene Genie is the blog carnival of genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). We accept articles on the news of genomics and clinical genetics. The news and articles of personalized genetics are also included. Check out Gene Genie for more about this unique field of medicine.

gene_genie_logo_400.jpg
Many thanks to Ricardo Vidal for the logo!

Don’t forget to submit your articles via e-mail (berci.mesko at gmail.com).

Let me know if you would like to host an edition.

Here are all the issues of Gene genie:

2009 Predictions in Personalized Genetics January 11, 2009

Posted by Dr. Bertalan Meskó in Genetic testing, genetics, Genome, Personalized medicine.
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5 comments

Hsien-Hsien Lei shared her 2009 predictions about personalized genetics with us and that’s where I would like to leave a few comments.

1. 23andMe will begin selling their tests on drugstore shelves.

I think they would be sued soon.

2. President Barack Obama will be offered genome sequencing.

He cannot and mustn’t accept it.

3. Apple will launch iSEQ – instant DNA testing and analysis in a handheld device.

I don’t think Apple will ever enter this market.

4. The first 10 participants in the Personal Genome Project will band together to be called Fantastic Ten. Each will reveal secret superpowers that are embedded in their DNA.

That is a possibility. But if they think wisely, they will never do something like that.

5. The U.S. government passes laws to obtain DNA from all its citizens which it says will help protect the innocent and punish criminals.

It was only possible in Iceland and will never be possible in the US.

What I think about 2009 is that Navigenics will rule the market even if its service is more expensive than the kit of 23andMe.

navigenics

Further reading:

AccessDNA: Know Your Genetics January 10, 2009

Posted by Dr. Bertalan Meskó in DNA, Genetic screening, Genetic testing, genetics, Genome, Web 2.0.
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13 comments

I’ve recently discovered AccessDNA on Twitter and I thought I should give it a try. On the main page, it says I should create my personalized report. Well, let’s do so.

accessdna

It asked me about the medical conditions that occurred in my family; environmental factors I have to face; tests I would be interested in, etc. And then I received the personalized genetic report; actually a list of genetic tests that might be useful for me.

accessdna-report

What can I do with that information? Yes, of course I want full genome scanning. But should this be my decision? Not the decision of my doctor? Just beacuse I reported to be of Caucasian descent, I should order genetic tests that cost several thousands of dollars?

You know what? I would love to hear the opinion of Steve Murphy here. And yours!

MicroRNA and personalized medicine? January 1, 2009

Posted by Dr. Bertalan Meskó in genetics, Medical Search, Medicine, Personalized medicine, science.
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Barbara Duck from The Medical Quack blog shared a link with me yesterday and I was surprised to see how strong the connection is between personalized medicine and the world of microRNAs. MicroRNAs (miRNA) are single-stranded RNA molecules of about 21–23 nucleotides in length, which regulate gene expression; according to Wikipedia.

The link took me to the website of Rosetta Genomics, a company that was founded in Israel in 2000. From the FAQ:

Rosetta Genomics mission is to develop a novel class of diagnostics and therapeutics based on a recently discovered family of genes called microRNAs.

Rosetta Genomics is developing diagnostic and therapeutic products based on micro-ribonucleic acid, commonly known as microRNA, primarily for cancer and women’s health indications.

rosetta-genomics

They provide 3 diagnostic tests:

  • miRview Squamous: differentiates squamous from non-squamous non-small cell lung cancer
  • miRview  mets: dentifies the tissue-of-origin of metastatic tumors.
  • miRview  meso: differentiates malignant pleural mesothelioma from peripheral adenocarcinomas of the lung or metastatic carcinomas involving the lung pleura.

It will be interesting to see how they move forward with this concept.

And in case you need a miRNA search engine, here is Intragenic miRNA browser:

mirna-search

A picture worth a thousand words: Guess the diagnosis! December 29, 2008

Posted by Dr. Bertalan Meskó in genetics, Genome.
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7 comments

This picture is really worth a thousand words. I have a tip about the possible diagnosis, a genetic condition. What’s yours?

fragile-x

(Via Aequanimitas and  Clinical Cases and Images)

And have you seen the table of mug-shots featuring the members of the Personal Genome Project currently having their genomes sequenced? You can read more about it on Genetic Future as Daniel MacArthur has a lo of things to say:

pgp_mugshots

Top row from left: Misha Angrist, Keith Batchelder, George Church, Esther Dyson, Rosalynn Gill.
Bottom row from left: John Halamka, Stanley Lapidus, Kirk Maxey, Steven Pinker, James Sherley.

Real-Time Gene Monitoring and Family Trees December 29, 2008

Posted by Dr. Bertalan Meskó in Genetic testing, genetics.
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Medical News Today reported:

Imagine having GeneVision: the uncanny ability to view the activity of any chosen gene in real time through a specially modified camera.

With GeneVision, military commanders could compare gene expression in victorious and defeated troops. Retailers could track genes related to craving as shoppers moved about a store. “The Bachelor” would enjoy yet one more secret advantage over his love-struck dates.

A new study in BMC Biotechnology correlates real-time gene expression with movement and behavior for the first time. The proof-of-concept experiment in fruit flies opens a new door for the study of genes’ influence on behavior.

Sounds interesting, doesn’t it? With real-time gene monitoring, we could analyze the pathogeneses of diseases more accurately or watch the effects of specific drugs in real-time in vivo.

I also wanted to share a few other sites with you such as:

family-tree-dna-logo

  • FamilyBuilder: they offer a YDNA test kit for males only, and an mtDNA test kit for both males and females.

family-builder-logo

I’m about to build a database of useful genetics-related links so feel free to share any promising sites/services with us.

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