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Posts from the ‘Genetic screening’ Category

20 Predictions in Medicine And Healthcare for 2014: From DIY Biotech to Mind-Controlled Exoskeletons

Every January, I publish my predictions for the upcoming year regarding medicine and healthcare. Usually, the majority of these predictions turn out to be valid later on, although I prefer calling them apparent trends rather than actual predictions. Here are my 20 points for 2014.

1) Google Glass to be used in everyday healthcare: Google Glass has shown its potentials as demonstrated by forward-thinking medical professionals such as Lucien Engelen, Christian Assad and Rafael Grossmann, even the first clinical study came out focusing on the use of Glass in the clinic in 2013. Prepare to see the first real practical examples in 2014.

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2) IBM Watson’s first commercial use by hospitals: IBM’s supercomputer has been tested by US clinics for months and it has proven its validity and value in medical decision-making processes. The first hospitals that make their doctors understand that Watson does not replace them, instead, it assists them, will buy the service in 2014.

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3) Direct-to-consumer genomics to get new rules: The recent story about the FDA and 23andMe demonstrated how insufficient the regulation around DTC genomic testing is, therefore it is time to come up with standards that only the best services can achieve. By standard I mean the FDA should make sure only companies with deep scientific knowledge and expertise get the permission to perform genomic analysis online. Now it’s certainly not the case.

Close View of a DNA Strand

4) 3D printing artificial limbs and biomaterials goes mainstream: We have already seen some great examples when artificial limbs and different types of biomaterials such as kidney or heart tissues were printed out in 3D but in 2014 this industry becomes mainstream with the first home 3D printers in the market.

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5) The healthcare experience will be brought to the home: See the recently published “doctor chair” that can measure a user’s blood pressure, pulse, temperature, body motion, and other vital signs just by having the user sit in the chair as an example and expect more similar solutions which will, by time, make hospitals almost useless as we will measure everything about ourselves at home.

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6) LEGO Mindstorms to be applied for DIY biotech: The amazing concept behind LEGO Mindstorms that teach you how to build an actual robot at home could be applied to the biotech industry with people growing cells and performing even simpler biotech tasks at home resulting in a new generation of scientists.

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7) Home diagnostics to be the key trend: Not only Scanadu will ship the first prototypes early 2014, but other similar devices with which patients can measure simple health parameters at home will become available.

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8) Wearable MRI technology: What if we could use radiology imaging without those huge machines? A Swiss group has been working on a wearable magnetic resonance imaging (MRI) detector and sensor arrays. It would vanish long waiting lists and allow medical professionals to literally see through the patient in emergency situations.

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9) Optogenetics to be featured at major scientific journals: I’ve been following the latest developments related to optogenetics and I was amazed when scientists were able to create false memories in the hippocampus of mice which was the first time fear memory was generated via artificial means. We might see even more studies that will put its potential implications on display.

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10) Bigger role of MOOCs as medical schools change approach about digital literacy: By the time the majority of medical schools worldwide realize the potential and importance of teaching digital literacy for future medical professionals, we will need more and more massive open online courses such as The Social MEDia Course to serve their needs and train a new generation of doctors.

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11) More connected digital healthcare devices and services: This should be one of the key trends this year as for the last years, we have been seeing plenty of great solutions either as medical devices or unique online services, but the connectivity has been a major issue. John Nosta featured the imperative of connectivity in his recent Forbes column.

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12) The first steps of Google Calico to be public: When Larry Page announced the launch of Calico, their new venture focusing on reversing and stopping the process of aging and related diseases, nobody knew what to expect. They will announce the first steps in 2014 led by the former CEO of life sciences giant Genentech and a chairman at Apple.

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13) EEG controlled devices to appear: There have been little games available on Amazon which let you control a ball with your “mind”, but what about those devices that really use your thoughts to control things? I’ve used myself a wheelchair which was controlled by thoughts and will meet soon the team behind SynetIQ, a platform for neuromarketing.

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14) Exoskeletons will be featured worldwide: We have been talking about the potential use of exoskeletons for disabled people but this year the technology will become available for the masses. Also related to the EEG controlled devices, a mind-controlled exoskeleton will kick off the 2014 football World Cup watched by billions of people.

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15) First really useful food scanners to be released: While there are thousands of wearable devices and smartphone apps focusing on fitness, what about a healthy diet? Using a simple meal diary makes no significant change in a lifestyle. The device of a Toronto-based company, Tellspec, detects allergens, chemicals and nutrients in your food. We could also link such data to our own genomic background to make the truly best diet choices.tellspec-17

16) Gamifying the healthy lifestyle: HapiFork measures whether you eat properly, a smart bra spots cancer in time; FitBit, Shine and hundreds of wearable devices were meant to help us live a healthy life by measuring our health parameters/lifestyle and gamifying the steps required for making positive changes.

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17) Finally remote touch and simpler data input become possible: The technology behind designing touchscreens that can work on any surfaces has made crucial steps in the past 2 years therefore it’s time to make simple data input possible. Omnitouch seems to be a valid player in this area.

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18) Nanotechnology to be included in the medical curriculum: For years, nanotechnology has presented the potentials of using nanotech devices in treating diseases, but as bombing cancer cells and using less invasive diagnostics became possible in 2013, we can expect to see nanotech-based clinical trials soon which also means we must teach students about such solutions..

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19) Decision on newborn genome sequencing to be made: Although the recent FDA vs 23andme debate prolonged this, certain countries (mainly in Asia) might start providing newborn babies with their own genome sequences at birth. The decline of the cost of sequencing and the rise of genome centers in Chine could be the key factors in this.

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20) First results of Ray Kurzweil’s work at Google to be revealed: One of the most exciting collaborations of recent years is Google hiring Kurzweil to create the first artificial intelligence brain. While no details about his actual work have been released so far, 2014 could be the year when they present at least a roadmap, if not real results.

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Personalized Genomics News: From Virtuality to the Streets

  • DNA As Crystal Ball: Buyer Beware (Newsweek): A genome-wide association study identified a new gene variant associated with Alzheimer’s disease but it turned out clinically it’s not useful.

“Adding these genes to traditional risk factors, such as age and sex, does nothing to aid prediction” of whether someone will develop Alzheimer’s, she told me. “Knowing your genetic status will not help. We may still be in the Stone Age when it comes to gene-based prediction.”

The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three prominent DTC companies: 23andMe, Pathway Genomics and Navigenics.

  • 23andme: A detailed review of the data the blogger just received from 23andMe.

The family said they received no medical counseling here and are making their own conclusions.  One comment made is that the parents stated they will probably be using more pharmaceuticals, interesting.

A patient analyzes her own 23andMe data:

Pathway Genomics: Let’s see my genes

As I’m doing PhD in clinical genomics and I’m really interested in the connection between internet and medicine, so I was very happy when Pathway Genomics, one of the newest direct-to-consumer genetic companies, offered me a free genetic test. After an interview I did with them, I sent my saliva sample back and 3-4 weeks later, I received an e-mail that my results were ready. This is just an entry about my experience and the things I found interesting. As I got a free test from Navigenics a year ago, I plan to compare these services in a future entry.

The reason why I was very interested in the service of Pathway Genomics is what they analyze:

1) Sampling: It was quite an easy process with only a few papers to fill (though it’s always hard to solve FedEX issues from Europe) and clear instructions. A video about a patient showing the whole process in 1-2 minutes including salive collection and filling papers would be useful.

2) Preparations: I liked that I had to fill a questionnaire focusing on my lifestyle and patient history (Your Environment and Lifestyle, The Shape You’re In and You and Your Family). As family history is the best genetic test out there, it’s important to use that data while analyzing genetic results. Though, I couldn’t calculate my BMI (couldn’t use kg and centimeter) and the Family history app has never been working for me.

3) Results: I still think that predicting risk of diseases based on a few SNPs cannot be accurate enough and we cannot base a medical decision on that. But drug responses and carrier status are totally different. For example, now I know I’m not a carrier for any of the disease they analyze, and I’m a slow metabolizer of caffeine (I never drink coffee as it has quite a negative effect on my work maybe due to this slow rate of metabolization).

4) Health conditions: Based on your genetic profile, it creates different groups for conditions such as Immediate Action, Take action, Be proactive, Learn More and Live a healthy lifestyle. It’s also shown whether the risk is based on validated or preliminary study results. It seems to me it creates a score for diseases based on SNPs and elevates the score by the number of questionnaire answers that proved to be risk factors. That’s where a genetic counselor is very important. For example, just because I’m 25 years old and Caucasian, I’m in the risk group for ulcerative colitis. I would love to see the combined risk (genetic + lifestyle) and would love to download the raw data in order to analyze it again with Prometheus and SNPedia.

Also I’m not sure whether an SNP with 1.07 odds ratio can really elevate my risk for anything.

Anyway,  it’s easy to navigate among the results and I like that there is no percentage of risk which makes it easier to understand for laypeople. I plan to contact one of their genetic counselors next week.

5) Ancestry: I’m in the same maternal haplogroup as Benjamin Franklin or Marie Antoinette (see migration map below on which we can adjust the migration pattern with the timline). The descriptions are detailed and full of references information. I particularly liked the numerous Pubmed links. My paternal haplogroups is quite interesting and is the same as Thomas Jefferson’s.

My friend, Blaine Bettinger also commented on this test.

6) To sum it up: I liked the service mostly because of the carrier status and drug responses features. It helped me analyze the results, find more information in peer-reviewed journals and maybe make lifestyle decisions.

Pros:

  • The 100% Moneyback Guarantee is still fantastic.
  • It analyzes not only disease risks but carrier status and drug responses.
  • No percentage of health risks, but a clear score system.

Cons:

  • Charging for the genetic counseling is not a good idea ($40 for a call up to twenty minutes, or a full hour for $99). It costs almost as much as the service itself. (Update: It turns out it was an old page and genetic counseling actually is for free)
  • The blog and Twitter account are not too active. There is no significant social media activity which would be crucial.
  • Obviously USA-focused
  • Raw data is not available for download.

In the next entry, I will compare my experiences with Navigenics and Pathway Genomics.

Whole-Genome Sequencing: Any Useful Data?

I met George Church at this year’s Scifoo event in San Francisco and we talked about how useful the data is that was obtained from whole genome sequencing methods. There are almost 50 people in the world right now whose genomes were sequenced like that but the number of useful genomes is very low (e.g. who made it public) . That’s one reason why the ClinSeq project is really promosing.

ClinSeq is a pilot project to investigate the use of whole-genome sequencing as a tool for clinical research. By piloting the acquisition of large amounts of DNA sequence data from individual human subjects, we are fostering the development of hypothesis-generating approaches for performing research in genomic medicine, including the exploration of issues related to the genetic architecture of disease, implementation of genomic technology, informed consent, disclosure of genetic information, and archiving, analyzing, and displaying sequence data.

In the initial phase of ClinSeq, we are enrolling roughly 1,000 participants; the evaluation of each includes obtaining a detailed family and medical history as well as a clinical evaluation. The participants are being consented broadly for research on many traits and for whole-genome sequencing. Initially, Sanger-based sequencing of 300-400 genes thought to be relevant to atherosclerosis is being performed, with the resulting data analyzed for rare, high-penetrance variants associated with specific clinical traits.

He also mentioned the 1000$ genome project and the unofficial estimation is that now it’s possible to sequence a person’s genome for under 5000$ and the 1000$ aim can become a reality at the end of this year.

Genetic Counselors: Unite!

I’ve come across a new site, The DNA Exchange, that seems to be a really promising project.

We are a group of genetic counselors with an interest in public discussion of genetics-related issues. This is a place for GCs to express opinions and comment on personal, clinical, and professional issues in genetics through a centralized and public forum. We hope to engage the genetic counseling community as well as other health professionals and stakeholders.  We encourage your feedback, and always appreciate a good debate!

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And if we are talking about genetic counselors, here is another article from Scientificblogging.com.

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!

Personalized Genetics: Are we ready?

As me and others have already stated for several times before, we are not. It was so good to read the opinion of Joel Burrill as I felt like we’re on the right way. Some excerpts from the interview made by Wired:

Currently there are some major barriers that need attention before companies like 23andMe will be incredibly successful. An incredibly steep barrier that needs immediate attention is the education of doctors. For doctors to actually use this type of information they need to understand the concepts and the principles that are at the heart of this type of technology, but currently the amount of education they receive in medical school is slim to none.

As for the nature of predictive medicine and companies that will offer predictive tests, I think it is a good idea, but there is going to be a gap between the patient and the doctor if these companies are marketed directly to the patient. If they are marketed to the patient, then the doctor will 1) have no knowledge of the outcome of the test, 2) have no basis to make any decisions off of other than the word of the patient and 3) no medical basis for prescribing medication.

In Hungary, medical education consists of 6 years and we have to study genetics for only 6 months (!). While the majority of the medical conditions we learn about have genetic basis, they try to introduce us to the world of genetics and genomics in just 6 months… How is the genetic education at your university or your clinic?

One of the best genetic bloggers out there these days is probably Daniel Macarthur at Genetic Future, who always comes up with some interesting posts and raises some important points:

However, the Navigenics model is also deeply regressive:… Where 23andMe talks about guiding customers through their own journey of genetic discovery, Navigenics appears to be more about giving clients the information that Navigenics thinks is medically relevant, and protecting them from all the non-essential details that might overwhelm or confuse them.

Los Angeles Times published this fascinating article, Genome scans go deep into your DNA:

Some researchers say it’s unclear whether people will understand the genetic risk data and what they will do with it. Is this just a bit of harmless fun? Will it improve long-term health outcomes? Or will hypochondriacal patients march to their doctors and demand truckloads of unnecessary tests, harming themselves and the healthcare bottom line — while others incorrectly see their results as destiny and adopt worse lifestyle habits?

At last, but not least, have you recognized that the genome of Watson was sequenced at high speed? As a commenter expressed, I guess this DNA sequencing paper would be rejected right away by Nature if it is not on DNA of James Watson. However, in today’s science, it is not the KNOWLEDGE but the SUBJECT that matters most in weighing the “significance” of a manuscript for publication.

So some major points for today:

  • education of medical professionals about personalized genetics should get a much bigger attention
  • closing the gap between patients and doctors in the aspect of analyzing genetic data is becoming important
  • have to be cautious with these new genetic companies and we should avoid “overhyping” their importance
  • papers should focus on the scientific value of the articles as selling the papers should not be the #1 objective for them

Stay tuned for more about individualized genetics.

What you have to know about personalized genetics

Genes load the gun. Lifestyle pulls the trigger.

By Dr. Elliot Joslin

I’ve written at least a hundred times about personalized medicine so it’s the perfect time to come up with a short description of what individualized medicine is about. In this new world of medicine, you get a treatment that is not only based on the epidemiological data of your population, but your own genetic background. But let’s start with a more appropriate definition:

Personalized medicine is use of information and data from a patient’s genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicine makes it possible to give: “the appropriate drug, at the appropriate dose, to the appropriate patient, at the appropriate time”. The benefits of this approach are in its accuracy, efficacy, safety and speed.

All right, here is an even shorter one.

…turning genetic variations associated with population-level risks of disease into medically advice useful for a single person sitting in an exam room.

We can also watch it on video:

Who are the key players?

23andMe: Single Nucleotide Polymorphism and genealogy analysis for 1000$. Check out my review or the demo account I created.

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Knome: Whole-genome sequencing for 350,000$. Check out my review.

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Navigenics: Will launch the service in days. My review is here.
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Helix Health: A New York company founded by our gene sherpa, Steve Murphy, who answered my questions some months ago. Helix Health focuses on the family history of the patient and their genetic background as well. Genetic counselors discuss the disease-specific risks with the patients.

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DecodeMe: It analyzes over one million variants in our genomes; calculates genetic risk for 23 diseases and finds our ancestors for $985.

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Who and what do stand behind the whole concept?

Archon X PRIZE for Genomics: The $10 million X PRIZE for Genomics prize purse will be awarded to the first Team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome.

The aim is the 1000$ genome.

Craig Venter’s genome that was published in September, 2007.

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Who and what should you follow to know everything about personalized medicine?

Personalized Genetics: Back in Business

It’s been a long time I haven’t written about the hypest field of medicine. So from now, I’ll get back to posting 2-4 times a week about individualized medicine. If you know nothing about it, check out my page dedicated to the subject.

Similarly, such technology will lead to individual genetic screening for disease risk using chipe that interact with the tiny bits f DNA we shed every time we touch something. Companies commercializing this approach also already exist and have products.

While reading these two blogposts, listen to the presentation of Kathy Giacomini (University of California): How Drugs May Be Tailored to Your Genetic Makeup

  • UK controversy over 23AndMe (Genetic Future): The Human Genetics Commission (and the Gene Sherpa) have already condemned 23andMe as a dangerous waste of money and called for regulations to control their marketing.
  • Don’t forget to check out the online tutorials and on-site training of OpenHelix. They focus on genetics and some tools devoted to genomics.

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Global Awakening in Genetic Counseling

I’ve recently come across this article at Nature Precedings written by Janice Edwards, Jacquie Greenberg and Margaret Sahhar. Check out these excerpts:

According to the National Society of Genetic Counselors in the USA “ To offer an optimum genetic service in a country it has been estimated that approximately 2 genetic counsellors per 1 million of the population would be the minimum number required.” Yet, the number of trained genetic counselors is estimated at less than 3000 worldwide.

Wow, we would need even more! Genetic counselors should play an important role in those genetic companies.

As global awakening in genetics continues, the Transnational Alliance for Genetic Counseling will promote transnational collaborations in genetic counselor education and research, stimulating international understanding of the role of genetics on human lives.

I wish I could promote more efficiently projects like this one.

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Here is an other great example from Scientificblogging.com. The Clinical Genetics column is maintained by Prof. Camillo Di Cicco (University of Rome/Medicine) and you can find dozens of well-structured and valuable articles about genetic conditions there. I’ll definitely follow the RSS of his page.

And we shouldn’t forget about some open notebook projects. Stew at Flags and Lollipops asked a question:

Is there a super-semantic-web-enabled phenotype database out there*? I want to ask a question like ‘give a list of monogenic disorders whose locus has been confirmed by at least two labs, broken down by type of causative mutation type’ and get an answer.

So, I really believe we’re moving forward. Let me know please if you happen to know more similar methods to promote genetic conditions and the science of genetics.

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