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Posts from the ‘DNA’ Category

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.”

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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.

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.

20 Potential Technological Advances in the Future of Medicine: Part II.

As I mentioned in the first part of this series, the job of a medical futurist is to give a good summary of the ongoing projects and detect the ones with the biggest potential to be used in everyday medical practices and to determine the future of medicine. Here is the second part of the list of 20 technological advances:

11) Switching from long and extremely expensive clinical trials to tiny microchips which can be used as models of human organs or whole physiological systems provides clear advantages. Drugs or components could be tested on these without limitations which would make clinical trials faster and even more accurate (in each case the conditions and circumstances would be the same). The picture below shows a microchip with living cells that models how a lung works. Obviously, we need more complicated microchips that can mimic the whole human body, but this ultimate solution will arrive soon.

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12) Medical students will study anatomy on virtual dissection tables and not on human cadavers. What we studied in small textbooks will be transformed into virtual 3D solutions and models using augmented reality. We can observe, change and create anatomical models as fast as we want, as well as analyze structures in every detail. Examples include Anatomage, ImageVis3D and 4DAnatomy.

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13) Optogenetics will provide new solutions in therapies. A recent study published in Science reported that scientists were able to create false memories in the hippocampus of mice. This is the first time fear memory was generated via artificial means. By time, we will understand the placebo effect clearly; and just imagine the outcomes we can reach when false memories of taking drugs can be generated in humans as well. The idea is a bit futuristic, but the basics of the method are almost available now.

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14) With the growing number of elderly patients, introducing robot assistants to care homes and hospitals is inevitable. It could be a fair solution from moving patients to performing basic procedures. The robot in the picture below is the prototype made by a company based in California that aims at combining robotics and image-analysis technology so then it can find a good vein in your arm and also draw your blood. In the next step, it will also perform analysis on the blood from detecting biomarkers to obtaining genetic data.

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15) Now we wear a FitBit and other devices that measure easily quantifiable data, but the future belongs to digestible and wearable sensors that can work like a thin e-skin. These sensors will measure all important health parameters and vital signs from temperature, and blood biomarkers to neurological symptoms 24 hours a day transmitting data to the cloud and sending alerts to medical systems when a stroke is happening real time. It will call the ambulance itself and sends all the related data immediately.

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16) It is not just about checking and monitoring vital signs but intervention is also the key to a better health. Imagine tooth-embedded sensors that can recognize jaw movements, coughing, speaking and even smoking so it records when you eat too much or smoke no matter what the doctor told you. Again, it’s going to be extremely hard not to keep the doctor’s pieces of advice. Imagine the same wireless technology used in organs providing real-time data.

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17) If wearing thin e-skins or having embedded sensors is not a viable option for us, then let’s make an old dream come true. The concept of the tricorder from Star Trek has been there for decades and we still don’t have it. The Qualcomm Tricorder X Prize challenge will hopefully lead to the development of a device that can diagnose any diseases and give individuals more choices in their own health. The competition is hard as devices such as Scanadu are also being developed. What matters is patients will control their own health.

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18) I’ve always been a fan of IBM Watson and seen its potentials as huge opportunities in medicine. Watson will assist physicians in everyday medical decision-making, although it will not substitute humans at all.  While a physician can follow a few papers, maybe a few dozens of papers with digital solutions, Watson can process over 200 million pages in 3 seconds, therefore with the increasing amount of scientific data, it would be a wise decision using this in the practice of medicine.

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19) Since the completion of the Human Genome Project, we have been envisioning the era of personalized medicine in which everyone gets customized therapy with customized dosages. The truth is that there are only about 30 cases when personal genomics can be applied with evidence in the background according to the Personalized Medicine Coalition. As we move along this path, we will have more and more opportunities for using DNA analysis at the patient’s bedside which should be a must have before actually prescribing drugs.

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20) I thought I would put the simplest and most predictable medical advance to the bottom of this list. In the near future, whether it is the right and reliable medical information, dynamic resources or medical records; everything will simply be available to everyone which might not sound that interesting, but this would purely be the most important development in the history of medicine.

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It would be great if you could share your insights about other technological advances in the comment section after the post. I hope you enjoyed these two journeys into the future of medicine.

Crowdfunding in Genomics

Crowdsource and crowdfunding are everywhere these days.

Jimmy Lin, a medical student at Johns Hopkins University, and other young scientists created the Rare Genomics Institute, a non-profit that leverages falling DNA sequencing costs and rising online giving to support medical research. Great idea!

In mid-July, the institute announced that it had completed its first crowdfunded gene sequencing and discovered what it believes is the root cause afflicting 4-year-old Bronx resident Maya Nieder. The girl can’t speak, and doctors are unsure whether she can hear. They had likewise failed to determine why she has missed so many developmental milestones. Lin’s team posted Nieder’s story online, and within hours donors had given the $3,500 needed to sequence key slices of the Nieder family’s DNA. (Yale University covered the rest of the costs.) The results, RGI says, point to a flaw in a gene crucial to fetal development.

Moreover, my friend, Lucien Engelen just published the results of his genomic analysis at 23andme. He aims at crowdsourcing potentially underlying genetic consequences of his genome.

What do you think? Was it a good idea? Would you make such information public?

Björk and the DNA

Björk, the extraordinary singer, released a new music video with her son Hollow which features a DNA animation created by biomedical animator Drew Berry. Enjoy!

The video for the song could be a documentary of a strange alien world or the beginning of life on Earth. Every frame is bursting with hyperactive life. It’s an odd feeling, watching DNA strands twist and form as small bits of proteins scurry around in the background. This is the unceasing chaos that is going on inside every one of us. The video could be a piece of a museum explaining our biological process were it not for the strange molecular face that appears near the end. That little addition adds a touch of mysticism to the piece and puts a small bit of humanity in a universe of mindless chemical processes.

What’s the most iconic scientific image?

There is a very interesting thread on Quora. Users want to find the most iconic scientific image ever. It might sound like an easy job but it’s truly not. My vote is for the Watson-Crick DNA double helix photo. What is yours?

Genetic Music Project

Some months ago I wrote about Alexandra Pajak, a graduate student at the University of Georgia, who released an album of music based on the DNA of HIV. And now here is the Genetic Music Project, an open source genetic art project combining music and science where everyone is art and everyone can be an artist.

Since all genetic information can only come in the language of four nucleotides (A Adenosine C Cytosine G Guanine T Thymidine) it is fairly easily conveyed in musical form. Another way of thinking about it is that each and every one of us and all life on this planet is made of music.

Here you can listen to some samples.

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