There are already terrabytes of data online and sometimes it is difficult to differentiate among true/false and relevant/irrelevant data. Although doing so is especially important in the case of medicine and healthcare since the well-being of people is at stake. So it is high time to show my top 10 choices when it comes to online […]

The rapid development of medical technology affects every aspect of medicine and healthcare – and even the seemingly most remote and ivory-tower-like institution, pharmacy, cannot escape its transformative power. Let me show you the bright future of pharmacies.

Diabetes is a lifelong condition with no cure. It requires constant attention from the patient and his or her environment. Now, artificial pancreas is coming into the everyday-life of diabetes patients to unburden them and enable them to live a normal life. I had a great conversation with the inventor of the DIY pancreas, Dana Lewis to […]



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.

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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.

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

Gene Genie #42 at Genetic Future

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.

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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

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.

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Further reading:

AccessDNA: Know Your Genetics

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!

Real-Time Gene Monitoring and Family Trees

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:

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

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

Gene Genie #41: Carnivalome

Gene Genie is the blog carnival of clinical genetics and personalized medicine. I’ve received more than 25 submissions for this edition which is dedicated to the human genome and videos in clinical genetics.

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Many thanks to Ricardo Vidal for the logo!

The molecular level:

Daniel MacArthur at Genetic Future wrote about Genetics of gene expression in African-Americans: ominous news for personal genomics?

Alex Palazzo at The Daily Transcript analyzed 100 years of genetic research.

Greg Laden‘s submission was The Scientific, Political, Social, and Pedagogical Context for the claim that “Race does not exist.”

Larry Moran at Sandwalk talked about Genes and Straw Men

The clinical level:

Chavonne Jones at Human Genetics Disorders shared Muscular Dystrophy Gene Therapy Video:

The Daily Scan informed us about Breaking Cancer’s Gene Code.

Walter Jessen at Highlight Health focused on Potential Location of Autism Genes Identified and Gene Expression Can Predict the Survival of Lymphoma Patients.

The PHG Foundation posted about Helping physicians understand genetic risk and Epilepsy Phenome / Genome Project.

Grace Ibay at Genetics and Health published two interesting articles: Gene therapy research presents hope for sickle cell anemia and The genetic disorder that kept her from dancing.

Chavonne Jones at Human Genetics Disorders also shared a Wilson’s disease video with us:

The personalized genetic level:

The Navigenics Blog said Leading genomic researcher discusses his own test results.

Hsien-Hsien Lei at Eye on DNA unveiled Singapore Company DNA Dynasty Will (Not) Tell Your Children’s Future.

Do you know costs are plummeting for human genome sequencing?

The PredictER Blog focused on genetic privacy.

Daniel MacArthur at Genetic Future featured advice for doctors on dealing with personal genomics customers.

Read more about The Spitterati and Trickle-Down Genomics at the site of Center for Genetics and Society.

Blaine Bettinger at The Genetic Genealogist analyzed Familybuilder that announces DNA Testing.

Now: The rest of the genome (Herald Tribune).

Lygeia Ricciardi at Project HealthDesign asked “Would knowing your genes change how you act?

And don’t miss the Book of Me.

Genetic Testing for Heart Disease:

The President level:

The Genetic Privacy of Presidential Candidates (New England Journal of Medicine):

Using genetic information to disparage opponents has no place in presidential campaigns. Nonetheless, the threat of genetic McCarthyism provides us with an opportunity to engage in a public dialogue about the limitations and complexities of using genomic information for decisions about life and health — including voting for our president.

Gene Screen: Will We Vote Against a Candidate’s DNA? (Wall Street Journal):

“DNA is not an issue in this campaign, but in the next campaign it will be bigger,” says George Annas, a leading authority on bioethics and human rights at Boston University. “It’s coming.”

If you want to host an issue of Gene Genie in 2009, let me know (berci.mesko [at] gmail.com). Don’t forget to submit your articles (berci.mesko [at] gmail.com).

And also check the Gene Genie blog out!

My Generation Health: Genetic testing first!

There are many personalized genetic services nowadays, but I think only a few of them have a strong future (Helix Health, Navigenics and 23andMe). Now here is a new candidate, My Generation Health.

my-generation-health

Generation Health is a health management company that specializes in helping employers and other health care payors manage medical costs and improve their employees’ and members’ health by assuring optimal utilization of genetic testing. Just as pharmacy benefit managers (PBMs) arose in the 1980’s to help health care payors better manage their pharmacy expenditures, Generation Health recognizes the need for a genetic testing benefit manager to be a trusted third party that can help payors manage this increasingly complex field. Clients will realize value in several ways:

  • Establishing a framework and rationale for covering and excluding specific genetic tests, based upon clinical validity and utility.
  • Prior authorization of all covered tests for eligible employees based upon sound medical criteria.
  • Negotiating discounted testing prices and quality/service standards with a contracted network of genetic testing labs.
  • Identifying patients, through analysis of medical and prescription claims, who may benefit from genetic testing, and then facilitating their testing.

(Via Lab Soft News)

Do you think it has a future?