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Posts tagged ‘Healthcare’

Shall We Sequence Genomes At Homes? – The Future of Genomics

As a geneticist, talking with George Church or the President of the Personalized Medicine Coalition was a fascinating experience while writing my recently published book, The Guide to the Future of Medicine. This is still one of the most promising fields of medicine but without getting it closer to the general public, genomics will never play a pivotal role in practicing medicine.

Let’s start from the beginning. From the years of 2005, 2006 and 2007, patients have been able to order genetic tests online with 23andme, Navigenics or Pathway Genomics. In 2013, 23andme received a letter from FDA about ceasing marketing of the screening service. Since then, the market has been transforming into something new that could also meet the regulations of the FDA. At least, hopefully.

My Gentle Labs package.

My Gentle Labs package.

I’ve had 3 genomic tests with Navigenics, Pathway Genomics and My Gentle Labs with 3 different results and experience. I thought the direct-to-consumer (DTC) market is just not ready for prime time. I also analyzed my own raw data with Promethease and got to very interesting conclusions about the future of my life. I loved the possibility to get insights about my genome as well, not just measuring my vital signs. Here is my overall experience with genetic testing:

Similarly to how the wearable revolution is transforming into a world of smart clothes, disease prevention and insideables (swallowed sensors), the field of DTC genomics has been changing too. Here are some reasons why.

  • While the cost of sequencing one person’s genome was about $3 billion in 2003, now it’s possible for under $1-3000 (see figure below). The $1000 genome is still not here, but the trends are clear and soon the shipping cost of the sample will be higher than actually sequencing that genome.
  • The number of sequenced genomes is skyrocketing. Illumina said that 228,000 Human Genomes would be sequenced only in 2014 and the predictions for this year are even bigger. Soon we will all have access to our own genomes.
  • It is known that fetal DNA is circulating in the mother’s blood,and it can be separated from her blood to allow analysis of the fetus’s genetic makeup. Imagine the possibilities.
  • Large US hospitals are about to begin sequencing the genomes of healthy newborn babies as part of a government-funded research program called BabySeq. Major diseases could be pointed out and precautions could be made about others far in time.
  • Oxford Nanopore developed the MinION™ portable device for molecular analyses of DNA, RNA and proteins that is driven by nanopore technology. It might be the first step towards sequencing genes at home, despite early criticisms.
  • There are more and more targeted cancer therapies available. As certain tumors have specific genetic mutations such as BRCA in breast cancer or EGFR in lung cancer, among others, they might be sensitive to targeted drugs. Sequencing a tumor’s own genome is becoming a routine step in designing the therapy for cancer patients, although the costs are exceptionally high.
Cost of genome sequencing.

Cost of genome sequencing.

As you can see, examples underscore the notion that genomics could play a very important role in everyday medicine, but numerous steps and elements are needed for that.

  1. Comprehensive and thorough regulation from organizations such as the FDA or EMA about what DTC companies can offer and actually do. Can patients order tests online or only their caregivers?
  2. Innovative companies connecting patients to medical professionals through the genomic knowledge behind cancer and other diseases.
  3. Reliable algorithms that could help use the huge amount of data genome sequencing leads to in analyzing health outcomes. A great example is how Joel Dudley at Mount Sinai Medical Center is working on implementing big data in medical decision making. IBM Watson is also analyzing genomic data to find treatments in brain cancer.
  4. With the widespread of genetic testing and the decline in the cost, it should be a common thing to analyze my genome or get a detailed analysis. Moreover, caregivers should be trained to be able to use that data in patients’ health or disease management.
  5. A better understanding of what genomics can and cannot offer by the general public. Professor Church pointed out to me that without educating people about the pros and cons of the genomic revolution, we cannot make the right steps forward.

It has become clear, seeing the trends, that the technology letting us sequence genomes at home is coming. Although it’s still hard to make good, evidence-based decisions purely based on genetic background; to get reimbursed if genetics-based personalized treatments are cost-effective on the long term (but expensive on the short term); and to interpret the huge amount of data. Cognitive computers are meant to help us with that, but I’m sure ever-improving technologies will provide all of us with our own genomes far before we could do anything with that information.

Read more about the future of genomics in my book, The Guide to the Future of Medicine.

KONYVBORITO_online final s 350

Interview with a Nokia Sensing Challenge Finalist Making Blood Analysis Available Remotely

When the XPRIZE Foundation named the 11 finalists for the Nokia Sensing XCHALLENGE, I had a chance to interview a team in which I see great potentials. Here is my short talk with the French team behind ARCHIMEJ TECHNOLOGY, a start-up led by co-founder Francisco Vega, developing technology focused on making blood analysis available remotely at an affordable price.

1) Can you tell me more details about the technology behind your solution?

I’m afraid I’m not going to be able to say much on that topic; everything is confidential for the moment. What I can tell you is that we have completely reimagined the linear process by which the measurement/analysis is performed today, to transform it into a complex multi-factor analysis, which paradoxically simplifies the entire process of testing.

There is 3 important parts in our technology:
– The technology that holds and conditions the sample for the measurement (sample = a drop of blood from finger-stick);
– The technology that performs the measurement (called Spectroscopy 2.0®);
– The technology that analyses the information measured and interprets it in test results easy to understand by the user.

Design Beta (concept art)_1

2) How can it be compared to Theranos which has similar goals?

What Theranos does is amazing! ..I mean, being able to perform hundreds (even maybe thousands) of tests with only a tiny volume of blood is already a huge step from anything existing.

What we do is taking this concept and trying to push it even further. We will not perform hundreds of tests (or at least not for now, maybe in the future), but for the moment we focus on those the most used, the most important ones and in making them available to people directly in their homes.

Our solution, Beta-Bioled, is a comprehensive and integrated platform that allows doctors and patients to get a blood-chemistry panel (10 to 20 tests) from 1 drop of blood, anywhere, in real time, for less than 2 dollars.

This idea of democratization of blood analysis, this.. new way for everybody to have access to medical relevant diagnostic is possible because of 3 factors: the mobility (or portability), the simplicity of use and the cost. If you miss one of those 3 factors the impact will not be the same, you will still be targeting a specific group of people or an elite..

3) How does your innovation contribute to the process of breaking down the “ivory tower” of medicine and making even blood analysis accessible to patients?

Imagine that you could monitor your heart, your liver, your kidneys, your lipids profile.. as if you were in a hospital but from the comfort of your home, with a fast and simple process and paying less in a month that what you pay for a coffee every morning.

It will be a huge step in the democratization of healthcare. Instead of going to check your health status when you are feeling unwell, you could anticipate and prevent. It would change the whole healthcare paradigm: less urgencies, and aggressive medication but smoother preventive treatments or lifestyle adjustments.

..Well this is exactly what we do; playing our part in the switch from industrial medicine that treats the symptoms to a personal preventing medicine.

Of course this transition is a process, and that’s why we are prepared to address each step of the transition, in order to speed it up.
– For existing medical facilities, our solution fits the needs of both patients and physician by reducing clinic overload, streamlining the process of performing a blood panel and receiving results instantly and more importantly, onsite.
– For emergency services and NGOs, it becomes an on-the-ground, easy to use ally to quickly make decisions and prioritize treatments.
– For medically underserved regions, either low medical infrastructure or low density of population, it becomes a bridge able to obtain and connect meaningful data to distant medical experts.
– Finally, for the elderly, and more generally for the chronic patients, who intend for more than 20% of all patients in the wealthy country, it brings them the so wanted autonomy and comfort.

Philips to Enroll Hereismydata™ Worldwide

My mentor and good friend, Lucien Engelen, Director of the Radboud REshape Innovation Center did it again! He transformed a great idea that can save a lot of lives globally into an actual product or service. Today, he announced that Philips will start enrolling Hereismydata worldwide in front of 140.000 people at the 3rd biggest IT event of the world, “Dreamforce” of Salesforce.com.

We at Hereismydata™ are creating a one-stop-and-go place to store your data. Secure, robust and you in control. Connecting apps and devices, creating clinical modules like the COPD module with Philips, and connecting services like Apple’s healthkit and (lateron) Google Fit and back and forth EMR’s will help to create insight in the patchwork of data out there.

They start with COPD but will add many more conditions soon. Combining all kinds of vendors, operating systems, and languages as well as local legislation issues that have been tackled creates the ecosystem he envisioned long ago.

This video explains how it works.

Why And How Healthcare Institutions Should Prepare For IBM Watson

What even the most acclaimed professors know cannot match cognitive computers. As the amount of information they accumulate grows exponentially, the assistance of computing solutions in medical decisions is imminent. While a physician can keep a few dozen study results and papers in mind, IBM’s supercomputer named Watson can process million pages in seconds. This remarkable speed has led to trying Watson in oncology centers to see how helpful it is in making treatment decisions in cancer care.

Watson is based on deep Q&A technology and gives a set of possible answers as the most relevant and likely outcomes to medical questions. But physicians make the final call. I have to note here that Watson is not there to replace the physicians, but to support them when making decisions. It also interacts with physicians and can suggest which additional tests are needed to generate a higher degree of confidence.

IBMWatson

The MD Anderson Center’s Oncology Expert Advisor

It is built to aid physicians in making evidence-informed decisions based on up-to-date knowledge. The system was designed to have three main capabilities:

  • Dynamic patient summary: Interpret structured and unstructured clinical data to create dynamic patient case summaries.
  • Evidence-based treatment options: Make treatment and management suggestions based on the patient profile weighed against consensus guidelines, relevant literature, and MD Anderson expertise.
  • Care pathway advisory: Provide care pathway advice that supports management of patients by alerting clinicians of adverse events or suggesting proactive care support.

When testing the accuracy of the system to recommend standard of care treatment related to 200 leukemia cases, the system had a false-positive rate of 2.9% and a false-negative rate of 0.4%. The overall accuracy of the standard of care recommendations was 82.6%.

The Memorial Sloan Kettering Oncology Advisor

Memorial Sloan Kettering’s expertise and experience with thousands of patients are the basis for teaching Watson how to translate data into actionable clinical practice based on a patient’s unique cancer. While initially focused only on breast and lung cancers, the work has expanded to more than a dozen other common solid and blood cancers such as colon, prostate, bladder, ovarian, cervical, pancreas, kidney, liver, and uterine, as well as melanomas and lymphomas. Watson digested the guidelines about Lung and Breast Cancer issued by the National Comprehensive Cancer Network (roughly 500,000 unique combinations of breast cancer patient attributes; and roughly 50,000 unique combinations of lung cancer patient attributes). Over 600,000 pieces of evidence were digested from 42 different publications/publishers.

How to prepare

There is no doubt it will have a bigger and bigger impact on how we practice medicine worldwide. But all stakeholders in the system must prepare for that:

  1. Medical professionals should acquire basic knowledge about how AI works in a medical setting in order to understand how such solutions might help them in their everyday job.
  2. Decision makers at healthcare institutions should do everything to be able to measure the success and the effectiveness of the system. This is the only way to assess the quality of AI’s help in medical decision making.
  3. Companies such as IBM should communicate even more towards the general public about the potential advantages and risks of using AI in medicine.
  4. Non-English speaking countries should invest in natural language processing (NLP). If the patient information is not in English, Watson needs to understand the content and context of the structured and unstructured information in that language. To do this, it uses the Unified Medical Language System (UMLS) and a semantic type recognition. The Watson Content Analytics (WCA) tool that processes NLP and is based on Unstructured Information Management Architecture (UIMA) is used for building annotations. WCA then uses a Medical Concept Extraction Tool and a Health Language Medical Terminology Management system that uses standard medical terminologies databases such as SNOMED, ICD-9, ICD-10, RxNorm, etc. And this is where most e.g. European countries miss the point. They don’t have all these systems in all the languages.

The other option is obviously to train physicians and nurses to document everything in English. But we can agree that this will never happen.

It is time to prepare in order to let technology help us do a better job in medicine.

This video provides a great summary about all these:

Five Expectations For Physicians About The Future of Medicine

The waves of technological changes coming towards us will generate new possibilities as well as serious threats to medicine and healthcare. Every stakeholder must prepare for these changes in order to reach a balance between using disruptive technologies in medicine and keeping the human touch.

I remain confident that it is still possible to establish that balance and there are reasons not only for patients but also for physicians to look forward to the next few years in medicine. Here are 5 of them.

1) Finally focus on patients

Technology is not against physicians and algorithms are not designed to replace them. Instead, by using efficient and simple technologies in the practice, physicians will finally have time and energy to focus on the patients.

Looking into their eyes while inputting data with augmented reality (Google Glass or digital contact lenses); listening to patients instead of trying to find the right information (as IBM Watson provides that already); and having access to all the devices that are needed to provide a good care (smartphones serving as biosensor packages). What is it if not a great prospect?

2) Avoid burning out

With supercomputers being used in medical decision making; physicians having skills related to digital literacy; using intuitive IT solutions that make it simple to input, export and move around data just like how children today use touchscreen devices; and getting access to the medical information they actually need, hours can be saved every week.

With less effort and time, they will be able to provide more care for their patients. This way, patient reward becomes an essential part again in the process of practicing medicine helping caregivers avoid burning out.

3) Use data that patients collect

The wearable revolution in health peaking this year gives patients the chance to take care of their own health, thus measure health parameters that have only been available and accessible in the ivory tower of medicine.

By bringing this data to the doctor visit, they can save time and effort, moreover, a true partnership between them can be established. As devices become better, cheaper and more efficient, physicians can soon start encouraging their patients to measure parameters relevant to their health and the results will be discussed and used during the next visit.

4) Crowdsource, crowdfund and crowdsolve

With the advances of social media and technologies that give access to these channels, no medical professional should feel alone when dealing with a complicated medical problem of challenge.

If information is needed, it can be crowdsourced; if funding is needed for a new project; it can be crowdfunded; and when a real medical solution is needed, they can find that through an inter-connected network of experts, resources and services.

5) Share responsibility with patients

Although it is now the responsibility of physicians to become the guides for their patients online (that requires new skills), by empowering them, actually responsibility can finally be shared. Medical professionals don’t have to make decisions alone, but in a close partnership with the patient.

But for this, every stakeholder must start preparing in time.

 

The Guide to the Future of Medicine is Available: Download the E-book for Free!

I cannot tell you how happy I’m to announce the official release of my book, The Guide to the Future of Medicine which was just made available in black & white paperback, colored paperback and Kindle formats. Moreover, the Kindle format is for free (yes, totally free) until the 6th of September.

It contains over one year of hard work, 70 interviews and 22 trends that will shape the future of medicine including Augmented Reality, Surgical and Humanoid Robots, Genomics, Body Sensors, The Medical Tricorder, 3D Printing, Exoskeletons, Artificial Intelligence, Nanorobots, Virtual–Digital Brains, The Rise of Recreational Cyborgs or Cryonics and Longevity.

Through these, I challenged myself to prove that it is possible to use more and more disruptive technologies in medicine while successfully keeping the human touch.

With Lucien Engelen’s foreword, the many examples and extraordinary stories depicted in the book, you will hopefully get a clear picture where medicine and healthcare are heading at the moment, and more importantly, what we can do as patients, medical professionals or policy makers to prepare for the waves of change.

Please use the #medicalfuture hashtag on Twitter and tell me what you think!

The Guide to the Future of Medicine ebook cover

The Future of Medicine in One Word Cloud

My book, The Guide to the Future of Medicine, will become available on Amazon.com in black&white paperback, colored paperback and Kindle formats on the 2nd of September. After sharing an excerpt of the table of contents revealing what trends are featured in the book; here is a word cloud presenting the main concepts and companies that are also described in details through stories, interviews and a lot of pictures.

What would be your top 3 choices among these to read more about?

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