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Posts tagged ‘genetics’

Gentle Sequenced All My Genes

Years ago, I had two direct-to-consumer (DTC) genomic tests. One with Navigenics and one with Pathway Genomics. Both tests gave me great insights about how this industry works and it was really exciting getting a clear picture about them as a geneticist myself. Although, when I saw the FDA-23andMe battle and the results, I was not surprised.

After these, I came across a new company, Gentle, a few weeks ago and had a chance to give a try to their genomic test. Why Gentle? Well, I had a few reasons:

  • They sequence all my genes, not just 1.9% of them as other DTC companies do.
  • They test me for 1700+ conditions (carrier status, from common to rare genetic disorders).
  • They provide revolutionary iOS apps.
  • I can download my raw data and I own it!

The package arrived, and I provided the required saliva sample. The process was quite simple.

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With a personal note:

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After a few weeks, I got access to my results and I was impressed. Here is the format they used to interpret my data:

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I could take a look at my carrier status and it turned out my genome doesn’t really carry anything serious. A color coded circle let me discover the details and for each condition or disease, I could access a more detailed description.

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The different layouts allowed me to discover the meanings behind the data in the way I preferred. Here is the chromosome view.

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Finally, the genetic counselor scheduled a talk with me about my results and she answered all my questions.

In overall, Gentle told me things about my genome that are backed by scientific evidence; they let me download the raw data and analyze it in my own way and provided me with a lot of details focusing on those carrier statuses. They do everything regulations let them do and they do that by keeping an eye on scientific quality.

Here is a video about the service:

My New Genetic Test is on the Way: Gentle Analyzes 1700+ Conditions

I’ve had two direct-to-consumer genomic tests before with Navigenics and Pathway Genomics. The topic of analyzing the genetic background to make decisions about lifestyle is really close to my heart, although as someone with a PhD in clinical genomics I know exactly what scientific limitations those companies have to face. Therefore I was glad to get a  chance to order a Gentle genetic test and see how they try to tackle these problems. Gentle will sequence all my genes and test me for 1700+ medical conditions.

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Here is a short interview with Peter Schols, CEO of Gentle Labs.

How does Gentle differ from all those direct-to-consumer genetic companies?

Gentle is different in many ways:
- We screen for over 1700 conditions, which is 5 times more than our closest competitor
- We screen more markers per condition, making our test more accurate and reliable
- We offer great mobile and web apps, check out our iPad app
- We don’t just dump results into people’s web accounts: we have genetic counseling with a medical doctor built-in

Prospective customers should have a look at this page for more info

How can companies performing sequencing compete with the next generation sequencing paradise in Beijing (Beijing Genomics Institute)?

We don’t want to compete on the sequencing itself: we outsource all lab work. Our focus is on DNA storage, DNA-analysis and on the communication of genetic test results.

The key part in a DTC genomic analysis is genetic counseling. Do your customers get access to such help in interpreting their results?

Absolutely, we have two levels of genetic counseling built-in: first of all, all test results are communicated by a medical doctor with a specialisation in medical genetics, through a teleconference. We have an exclusive agreement with Royal Doctors to provide our clients with the best medical geneticists worldwide. Alternatively, clients can choose to have the results communicated by their own doctor.

Secondly, our own Gentle geneticists are available to answer any questions our clients might have, whether it’s before taking the test or after discussing the results with the doctor. They’re are always there to help.

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I cannot wait to get my results back which I will publish here as well.

Nanobiosym Health RADAR Wins Grand Prize at Nokia Sensing XChallenge

The Nokia Sensing XChallenge is one of those driving forces that can initiate real innovations in healthcare and the new grand prize winner was just announced. Nanobiosym is taking the ability to diagnose disease and monitor personal health outside of a hospital or pathology lab.

Nanobiosym® (NBS) is an innovation engine dedicated to creating a new science that emerges from the holistic integration of physics, biomedicine, and nanotechnology. NBS focuses on incubating transformational technologies that have the potential for game-changing impact and commercializing and scaling up these technologies for deployment in developed and developing world markets. NBS leverages science and technology to address our planet’s greatest unmet needs in global health, energy and the environment.

Here is their team video:

Navigenics: What my genome tells me to do

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.

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

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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:

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They tell me my risk compared to the whole population.

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

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

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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

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.

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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:

Top 50 Genetics Blogs

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

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.

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

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.

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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.

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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!

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