healthcare technology

Personalized medicine is hoping to reach new heights thanks to the Cancer Moonshot, but won't get off the ground without a community-wide commitment to sharing big data.

 

The precision medicine community has long since recognized that sharing big data, including clinical records, genomic sequencing data, community-level health indicators, and research results, will be critical to making progress against cancer, neurodegenerative diseases, inherited conditions, and expensive chronic diseases like diabetes.

 

 

“Why is data sharing important? Because cancer is complex,” said Kenneth C. Anderson, MD, President-elect of the American Society of Hematology (ASH).  Anderson specializes in multiple myeloma, a blood cancer with treatment options that hinge on the genetic variances of each and every patient.

“We’re learning so much about cancer, and applying these insights to drug development has been incredibly fruitful,” he continued. “Now we have treatments that are specifically targeted to patients’ genetic mutations. Not only are these treatments more effective — because they correct a specific mutation — they also minimize harmful side effects that we see with traditional total-body anticancer medicines.”

However, the continued development of these treatments cannot be sustained without a commitment to data sharing, he added.

 

more at http://healthitanalytics.com/news/why-sharing-cancer-big-data-is-key-to-personalized-medicine

 

For breast cancer patients, the era of personalized medicine may be just around the corner, thanks to recent advances by USC Stem Cell researcher Min Yu and scientists at Massachusetts General Hospital and Harvard Medical School.

In a July 11 study in Science, Yu and hercolleagues report how they isolated breastcancer cells circulating through the blood streams of six patients. Some of these deadly cancer cells are the "seeds" of metastasis, which travel to and establish secondary tumors in vital organs such as the bone, lungs, liver and brain.

Yu and her colleagues managed to expand this small number of cancer cells in the laboratory over a period of more than six months, enabling the identification of new mutations and the evaluation of drug susceptibility.

If perfected, this technique could eventually allow doctors to do the same: use cancer cells isolated from patients' blood to monitor the progression of their diseases, pre-test drugs and personalize treatment plans accordingly.

A protein in the central nervous system could provide a useful tool for diagnosing concussions and allow doctors to assess when it is safe for athletes to return to competition.

Swedish researchers have found, through examining studies in sporting injuries, that a protein in the central nervous system could provide a tool for diagnosing concussions. They published their results in JAMA Neurology.

Previous studies have measured changes in the levels of protein biomarkers present in cerebrospinal fluid or blood in athletes who participate in contact sports.

Certain biomarkers - neuron-specific enolase, S-100 calcium-binding protein B, neurofilament light and total tau (T-tau) - have been shown to increase in boxers, correlating with the number and severity of head blows received. After a rest from boxing, these biomarkers return to normal levels.

If genomes are going to revolutionize personalized medicine, the first step will be sequencing the genome accurately.

It bears repeating just how far this tech has come: the price of sequencing a genome is rapidly coming down, as is the time it takes to do a sequence. It’s getting so easy that the price point is already well within the means of many middle class Americans, and the technology might soon prove useful enough to save lives. Proponents say that, in the future, personalized medicine will allow doctors to determine the specific genetic variants that predispose their patients to certain diseases, which will then help doctors to devise individualized—and more effective—treatments.

But with roughly six billion base pairs in the human genome, creating a truly accurate gene sequence is no easy task. Even the best sequencing techniques can have an error rate around 1 percent, which adds up to hundreds of thousands of errors. When diseases depend on single nucleotide insertions or changes, those errors can mean the difference between a misdiagnosis and an accurate one.

A group of researchers with the US government’s National Institute of Standards and Technology is trying to solve that problem with a program called Genome in a Bottle. With academic and commercial partners, the group is trying to create what is essentially one “perfect” human genome that can be a reference for sequencing labs. Though every genome is different, the places where sequencing errors most commonly happen are fairly well understood, and by comparing one sequence with a reference genome, doctors and researchers would be able to tell if they’ve made a mistake.

“We’re sitting here with billions of data pairs—it boggles the mind try to get that much information accurately determined,” said Marc Salit of NIST’s Genome Scale Measurements Group. “Even when we think we’re getting it right, a few missing bases or additional ones can make a huge difference.”

Salit and his colleague, Justin Zook, recently published a study in Nature Biotechnologydiscussing their solution to the problem. According to Salit, by sequencing the same genome many times and comparing the base pairs, they can create a reference that is much more accurate than what we already have.

more at http://motherboard.vice.com/read/if-we-cant-get-genome-accuracy-right-personalized-medicine-is-a-pipe-dream

Stars, diamonds, circles.

Rather than your average bowl of Lucky Charms, these are three-dimensional cell cultures that can be generated by a new digital microfluidics platform from researchers at U of T’s Institute for Biomaterials and Biomedical Engineering (IBBME).

Published this week in Nature Communications, the tool can be used to study cells in cost-efficient, three-dimensional microgels. This may hold the key to personalized medicine applications in the future.

“We already know that the microenvironment can greatly influence cell fate,” saidIrwin A. Eydelnant (IBBME PhD 1T3), recent doctoral graduate from IBBME and first author of the publication. “The important part of this study is that we’ve developed a tool that will allow us to investigate the sensitivity of cells to their 3D environment.”

“Everyone wants to do three-dimensional (3D) cell culture,” explained co-authorAaron Wheeler (IBBME), Professor and Canada Research Chair in Bioanalytical Chemistry at IBBME, the Department of Chemistry, and the Donnelly Centre for Cellular and Biomolecular Research (DCCBR) at the University of Toronto.

“Cells grown in this manner share much more in common with living systems than the standard two-dimensional (2D) cell culture format.” But more naturalistic, 3D cell cultures are a challenge to grow.

more at http://www.engineering.utoronto.ca/About/Engineering_in_the_News/3D_Microgels__On-demand__Offer_New_Potential_for_Cell_Research__the_Future_of_Personalized_Medicine.htm

The future of personalized medicine comprise quantifiable diagnosis and tailored treatments; i.e. delivering the right treatment at the right time. To achieve standardized definition of what “right” means, the designated treatment location and lesion size are important factors.

This is unrelated to whether the treatment is focused to a location or general. The roll of medical imaging is and will continue to be vital in that respect: Patients’ stratification based on imaging biomarkers can help identify individuals suited for preventive intervention and can improve disease staging. In vivo visualization of loco-regional physiological, biochemical and biological processes using molecular imaging can detect diseases in pre-symptomatic phases or facilitate individualized drug delivery.

Furthermore, as mentioned in most of my previous posts, imaging is essential to patient-tailored therapy planning, therapy monitoring, quantification of response-to-treatment and follow-up disease progression. Especially with the rise of companion diagnostics/theranostics (therapeutics & diagnostics), imaging and treatment will have to be synchronized in real-time to achieve the best control/guidance of the treatment.

It is worthwhile noting that the new RECIST 1.1 criteria (used in oncological therapy monitoring) have been expanded to include the use of PET (in addition to lymph-node evaluation).

more at http://pharmaceuticalintelligence.com/2014/01/13/the-roll-of-medical-imaging-in-personalized-medicine/

Personalized medicine is the art and science of “coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic and therapeutic strategies precisely tailored to each patient’s requirements.”1 

The clinical development and regulatory approval of targeted agents that have therapeutic benefit in molecularly defined patient subsets has highlighted the value of personalized medicine, which can be leveraged in clinical trials so that the identification of eligible patients for certain trials is optimized based on the patient’s molecular testing. These targeted patient groups are often rare and expensive to identify, particularly in the field of oncology, making clinical trials targeting these populations difficult to enroll.

What does 2014 hold? According to Eric Schmidt, Google's executive chairman, it means smartphones everywhere - and also the possibility of genetics data being used to develop new cures for cancer.

Schmidt says there's a big change - a disruption - coming for business through the arrival of "big data": "The biggest disruptor that we're sure about is the arrival of big data and machine intelligence everywhere - so the ability [for businesses] to find people, to talk specifically to them, to judge them, to rank what they're doing, to decide what to do with your products, changes every business globally."

But he also sees potential in the field of genomics - the parsing of all the data being collected from DNA and gene sequencing. That might not be surprising, given that Google is an investor in 23andme, a gene sequencing company which aims to collect the genomes of a million people so that it can do data-matching analysis on their DNA.

(Unfortunately, that plan has hit a snag: 23andme has been told to cease operating by the US Food and Drug Administration because it has failed to respond to inquiries about its testing methods and publication of results.)

Here's what Schmidt has to say on genomics: "The biggest disruption that we don't really know what's going to happen is probably in the genetics area. The ability to have personal genetics records and the ability to start gathering all of the gene sequencing into places will yield discoveries in cancer treatment and diagnostics over the next year that that are unfathomably important."

It may be worth mentioning that "we'll find cures through genomics" has been the promise held up by scientists every year since the human genome was first sequenced.

So far, it hasn't happened - as much as anything because human gene variation is remarkably big, and there's still a lot that isn't known about the interaction of what appears to be non-functional parts of our DNA (which doesn't seem to code to produce proteins) and the parts that do code for proteins.

Every year IBM makes predictions about 5 technology innovations that stand to change the way we live within the next 5 years. 

This year, one of those 5 is Personalized Cancer Treatment.

In five years, doctors will routinely use your DNA to keep you well. Cancer will be treated on a DNA level in both the patient and tumor, at a scale and speed never before possible. 

According to the World Health Organization, “Health literacy builds on the idea that both health and literacy are critical resources for everyday living. Our level of literacy directly affects our ability to not only act on health information but also to take more control of our health as individuals, families and communities. “

 

The Angelina Jolie effect:

Some years ago, the famous actress and activist, Angelina Jolie, publicised her personal story of her family’s fight with cancer. This action had a significant effect on public health and health literacy. According to the data presented at the European Health Forum´s Gastein Workshop on Health Literacy and Personalised Medicine, on referral data specific to breast cancer family history 2012 versus 2013, there was a rise in referrals from May 2013 onwards, an increase in the enquiries for risk-reducing mastectomy with no increase in inappropriate referrals.

 

In a world where patients and consumers are pushed and incentivised to commercially exploit their medical data, the ability to understand the nature and value of the medical data and the implications of their commercial use is under the microscope. In addition, given the nature of the healthcare system, citizens are often wondering who they can trust with their medical data.

 

Furthermore, the Angelina Jolie effect is really a great example of influencer marketing. Influencer marketing is a form of marketing where the focus is placed on a public figure, with a powerful influence over a targeted audience and their engagement in a campaign in order to convince this audience towards a specific activity or good. In this case, Angelina Jolie is the influential public figure who managed to raise awareness around breast cancer screening.

 

What if we were using influencer marketing to increase health literacy around specific health issues?

 

Given the Angelina Jolie effect, we see how celebrities can strengthen health literacy. At the same time, these celebrities succeed because they speak to the audience through the channels and the language they understand. They truly engage with them in a human level. This “humanity” can be the key to future actions and campaigns aiming at tackling the issue of health literacy.

 

read the entire article at http://www.ehfg.org/blog/2018/10/03/personalised-medicine-health-literacy-w2/

 

The big hairy audacious goal of most every data scientist I know in healthcare is what you might call the Integrated Medical Record, or IMR, a dataset that combines detailed genetic data and rich phenotypic information, including both clinical and “real-world” (or, perhaps, “dynamic”) phenotypic data (the sort you might get from wearables).

The gold standard for clinical phenotyping are academic clinical studies (like ALLHAT and the Dallas Heart Study).  These studies are typically focused on a disease category (e.g. cardiovascular), and the clinical phenotyping on these subjects – at least around the areas of scientific interest — is generally superb.  The studies themselves can be enormous, are often multi-institutional, and typically create a database that’s independent of the hospital’s medical record.

In 2011, a 52-year-old runner and yoga enthusiast walked into the office of Monica Loghin, a neuro-oncologist at MD Anderson Cancer Center in Houston, complaining of numbness and weakness in her lower limbs and difficulty controlling her bladder.

The symptoms were of grave concern, as the patient had previously undergone surgery for breast cancer that had spread to her brain. If such a cancer returns post-surgery, that is often a sign the patient doesn’t have much time left.

An MRI confirmed that the breast cancer had again spread to the woman’s cerebrospinal fluid. Loghin ordered testing of that fluid to see if the patient might have certain biomarkers that could be targeted by existing drugs. (A biomarker is a DNA sequence or protein associated with the disease; different biomarkers can suggest specific treatments, depending on the disease and other factors.) She asked for tests that could detect tumor cells circulating in the blood.

The cancer cells in the fluid bathing the woman’s spinal cord and brain chambers did, in fact, have a lot of the protein that controls a glucose (sugar) transporter that drives cancer cells. The cancer cells in the fluid also had a lot of HER2, a protein associated with aggressive breast cancers but also treatable with a drug called Herceptin (trastuzumab). The drug is usually taken intravenously, but Loghin had heard of a couple of cases in which Herceptin was delivered directly into the cerebrospinal fluid via a flexible tube, or catheter. The patient agreed to this experimental treatment.

It took only a week for the news to improve. After the first infusion of Herceptin, the patient’s cancer numbers were down. Within a few weeks, her cancer cell numbers had fallen so low that her immune system had begun to take over, clearing out the remaining cancer cells. Nearly two and a half years later, the patient is still alive and well enough to do yoga. Another MD Anderson patient who had a similar disease profile and therapy is also alive and well one year after treatment.

This case outlines the dream of personalized medicine: A disease is analyzed at the molecular level. The analysis identifies a drug target. The drug gets delivered where it needs to go. The patient gets better. And while this hopeful scenario has yet to become commonplace, it is becoming more and more the norm for many breast cancer patients.

So far the internet of things hasn’t made much headway into patient care in the medical setting, but consumers are buying wellness devices for a variety of reasons. Will the medical world embrace that data?

The intersection of healthcare and connected devices was thrown into high relief these last few weeks as both Apple and Samsung unveiled ecosystems to take consumer health data and turn it into actionable intelligence.

But this week’s guests at the Weekly podacst at GigaOm are confident that as advanced as consumer-grade consumer grade health devices get, they won’t become something doctors are hot on for years to come — if ever.

In this week’s podcast Stacey Higginbotham discusses medical connected devices and where it may meet the consumer with Rick Valencia from Qualcomm Life. Will doctor’s prescribe our apps or devices? 

Researchers and collaborators of the Soh lab at UC Santa Barbara have developed an implantable device to monitor real time concentrations of medications in the blood. The device, called the MEDIC (Microfluid Electrochemical Detector for In Vivo Concentrations), aims to address an increasingly identified problem in medicine – that people metabolize and respond to the same medication at the same dose in very different ways.

“If you’re dealing with a disease like cancer that can be arrived at by multiple pathways, it makes sense that you’re not going to find that each patient has taken the same path” - John McDonald, a professor in the School of Biology at the Georgia Institute of Technology in Atlanta.

If a driver is traveling to New York City, I-95 might be their route of choice. But they could also take I-78, I-87 or any number of alternate routes. Most cancers begin similarly, with many possible routes to the same disease. A new study found evidence that assessing the route to cancer on a case-by-case basis might make more sense than basing a patient’s cancer treatment on commonly disrupted genes and pathways.

The study found little or no overlap in the most prominent genetic malfunction associated with each individual patient’s disease compared to malfunctions shared among the group of cancer patients as a whole.
“This paper argues for the importance of personalized medicine, where we treat each person by looking for the etiology of the disease in patients individually,” said McDonald, 

“The findings have ramifications on how we might best optimize cancer treatments as we enter the era of targeted gene therapy.”

The research was published February 11 online in the journal PANCREAS and was funded by the Georgia Tech Foundation and the St. Joseph’s Mercy Foundation.

In the study, researchers collected cancer and normal tissue samples from four patients with pancreatic cancer and also analyzed data from eight other pancreatic cancer patients that had been previously reported in the scientific literature by a separate research group.

McDonald’s team compiled a list of the most aberrantly expressed genes in the cancer tissues isolated from these patients relative to adjacent normal pancreatic tissue.

The study found that collectively 287 genes displayed significant differences in expression in the cancers vs normal tissues. Twenty-two cellular pathways were enriched in cancer samples, with more than half related to the body’s immune response. The researchers ran statistical analyses to determine if the genes most significantly abnormally expressed on an individual patient basis were the same as those identified as most abnormally expressed across the entire group of patients.

The researchers found that the molecular profile of each individual cancer patient was unique in terms of the most significantly disrupted genes and pathways.

more at http://www.news.gatech.edu/2014/02/24/personalized-medicine-best-way-treat-cancer-study-argues

Personalized medicine, or the ability for the medical profession to tailor therapy to particular individuals’ genetic characteristics, has been a long desired but ever elusive goal for the life sciences.  However, the prospects for personalized medicine appear to be improving in recent years.  These changes come in the wake of a variety of medical advances, including human genomic testing and cancer drugs targeted for individuals with specific genetic profiles.

As public attention to understanding the human genome has increased, the topic has garnered substantial controversy and regulation in this sector is poised to increase.  The Food and Drug Administration (FDA) has already indicated its intent to regulate—most recently in a report clarifying its future role in personalized medicine and in warning letters to direct-to-consumer genetic testing companies.

The FDA maintains it has the authority to regulate personal genetic data because it defines that data as a medical device under Section 201(h) of the Food Drug & Cosmetics Act.  The agency also points to its role as the federal body charged with providing guidance on medical device claims and protecting consumers.

Some health scholars and consumers have weighed in on the propriety of regulation.  In a study of consumer attitudes toward regulating direct-to-consumer genetic testing, researchers found many consumers wanted unfettered access to genetics testing services without government regulation, but favored oversight to ensure that the information provided was high quality.

Among the many stents, surgical clamps, pumps and other medical devices that have recently come before the Food and Drug Administration for clearance, none has excited the widespread hopes of physicians and researchers like a machine called the Illumina MiSeqDx.

This compact DNA sequencer has the potential to change the way doctors care for patients by making personalized medicine a reality, experts say.

"It's about time," said Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine.

Physicians who rely on genetic tests to guide their patients' treatment have had to order scans that reveal only small parts of a patient's genome, as if peeking through a keyhole, Snyder said: "Why would you study just a few genes when you can see the whole thing?"

Back in 2000, when the Human Genome Project completed its first draft of the 3 billion base pairs that make up a person's DNA, the effort took a full decade and cost close to $100 million. The Illumina MiSeqDx can pull off the same feat in about a day for less than $5,000 — and the results will be more accurate, two of the nation's top physicians gushed in the New England Journal of Medicine.

That confluence of "faster, cheaper and better" is likely to accelerate the use of genetic information in everyday medical care, Dr. Francis Collins, director of the National Institutes of Health, and Dr. Margaret Hamburg, commissioner of the FDA, wrote last month. DNA sequencing should guide physicians in choosing the best drug to treat a specific patient for a specific disease while risking the fewest side effects.

more at http://www.latimes.com/science/la-sci-personalized-medicine-20140104,0,436970.story#axzz2pVUO0gKI

Each of our bodies is utterly unique, which is a lovely thought until it comes to treating an illness -- when every body reacts differently, often unpredictably, to standard treatment. Tissue engineer Nina Tandon talks about a possible solution: Using pluripotent stem cells to make personalized models of organs on which to test new drugs and treatments, and storing them on computer chips. (Call it extremely personalized medicine.)

One of the most significant achievements in the field of biomedical engineering is the creation of DNA nanobots. These molecular robots made of DNA are designed to deliver medicines to specific cells that require healing and to target harmful cells, killing them without harming the healthy ones.

Unlike commonly used drugs and supplements, nanobots have a measure of intelligence and can conveniently move through the body in smart ways.

How are these nanobots produced? Scientists use DNA, breaking up the components and rearranging them into shapes such as barrels to carry medicine. DNA naturally has a tendency to react in certain ways to outside stimuli, and its components assemble according to natural attraction and repulsion. These reactions are manipulated to make the nanobots and to program them.

Nanobots are free-floating structures that move through the bloodstream and remain neutral until they encounter a particular site that requires assistance. With the help of molecular cues programmed into them, they can identify a precise location and perform the necessary actions.

Treatment with nanobots could prove to be especially effective against cancer. With chemotherapy treatment, healthy cells are killed along with the cancerous cells. Nanobots can detect the cancerous cells, however, and only release medicine upon encountering them.

Read more: http://www.theepochtimes.com/n3/390772-dna-nanobots-the-future-of-modern-medicine/#ixzz2oWJdpY00