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Posts tagged ‘genetics’

QuantuMDx Announces Prototype Handheld DNA Analyzer

At the TEDMED 2014 conference, medical device developers QuantuMDx Group announced the successful production of their first fully-integrated sample-to-result working prototype of Q-POC™, a handheld lab that delivers DNA-based medical diagnosis in minutes. Here is an excerpt from their press release.

With genetic data at their fingertips, frontline healthworkers will be able to provide personalized healthcare, no matter where they are; public health officials will have the information they need to mobilize the right resources to the right place at the right time; researchers will be better equipped to monitor the efficacy of a disease intervention. Due for commercialisation in 2016, Q-POC™ is the Bio-API™ that will make this possible by translating genetic code to binary.”

QuantuMDx Q-POC prototype 72dpi

I used to work with PCR machines in the lab and it sounded like science fiction back then that once the technique could become performed at home.

Jonathan O’Halloran’s WIRED Health talk in which he described the £500 handheld device that tracks disease mutations.

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

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