Science or Science Fiction?
12 Cutting-Edge Medical Advances

When Watson, Crick, and Wilkins published their descriptions of the structure of DNA in 1953, the idea of sequencing a patient's entire genome to quantify their risk of developing a particular disease and select treatments based on specific genetic vulnerabilities was largely science fiction. Today, whole-genome sequencing costs a few thousand dollars and is changing the practice of medicine. In addition to genomic insights, other biomedical advances once reserved for sci-fi B-movies are becoming reality. Clinicians are using new techniques and technologies to generate organs, perform virtual surgery, and perhaps one day transplant a living human brain. Based in part on Medscape News coverage, we've highlighted several cutting-edge areas of research on the frontiers of medicine that are putting the science in science fiction.

Prosthetic Progress

Using state-of-the-art materials, such as titanium, carbon fiber, and plastics, prosthetic limbs are more durable and allow users more versatility than ever before. Forget walking and grasping objects; prosthetic limbs now allow users to run and throw. And mind-controlled, robotic, and bionic technologies are being used to restore mobility in the most challenging of cases.

In December 2012, for example, a 52-year-old woman paralyzed from the neck down learned to control a robotic prosthetic arm with her thoughts and perform several activities of daily living, such as reaching for and grasping items just like "an able-bodied person."

Last September, a British woman paralyzed from the chest down became the first to take home a robotic exoskeleton that enables her to walk and stand. The exoskeleton is activated when she tilts her balance to indicate the desire to take a step. It allows her to go up or down stairs, and sit or stand up. The woman, Claire Lomas, used the suit to complete the London Marathon in 17 days.

Image courtesy of UPMC Rehabilitation Institute

Deciphering the Brain

Earlier this year, the Obama Administration announced the launch of BRAIN, an initiative to map brain structure and activity in hopes of one day preventing and treating neurologic and psychiatric disorders. Despite criticism that the project is overly ambitious, recent advances suggest otherwise: for example, optogenetics, a technique that allows scientists to precisely control neuronal firing to see how specific regions of the brain affect behavior. A new imaging approach called CLARITY can image intact neural networks by replacing the brain's lipid content, which is light-impermeable, with a transparent hydrogel.

Other cutting-edge neuroscientific research avenues include the concept of "brain hacking" -- or using a brain/computer interface to analyze brain waves and extract personal information, and using software to recognize and record emotional states. Brain technology as treatment also looks promising. Neuromodulation approaches, including transcranial magnetic stimulation (TMS) -- using external magnetic fields to alter neuron activity -- are being investigated, or are already approved, in numerous brain disorders.

Image courtesy of Wikimedia

Brain Transplantation

Perhaps the most fantastical surgical procedure imaginable is the idea of transplanting a living human brain -- and with it, one's entire ethos -- into another body. But surprisingly, complete brain transplants may not be as far-fetched as they seem. A team at the University of Pennsylvania led by Douglas H. Smith, MD, has engineered transplantable living nerve tissue that could potentially be used to regenerate or reconnect neurons. Smith believes the external axon tracts generated in his laboratory, which he likens to the alien ponytails from the movie Avatar and "living jumper cables," are a first step to achieving a complete brain transplant and could provide functional connections to the human brain. "This may sound like science fiction, but we are currently working on such a connection," says Smith. "I absolutely believe that brain transplants will occur," he continues; "however, for the foreseeable future, we will be limited to brain repair with lab-grown brain tissue."

Photo by Douglas H. Smith, MD

Bioengineered Tissue

Similar to Smith's cultured neurons, numerous other tissue types and organs have been successfully grown in vitro and in vivo. In 2008, at a hospital in Barcelona, Spain, physicians successfully transplanted a donor trachea using the recipient's stem cells to prevent rejection and encourage tissue integration. In 2012, a similar procedure was carried out completely inside the body, and to date, 12 tissue-engineered tracheas have now been transplanted worldwide. Using such techniques as 3D printing (see slide 8) and bioreactor cellular infusions, researchers have successfully generated and regenerated functional rat kidneys. If the approach pans out in humans, a patient's own cells could be used to grow a transplantable kidney on an artificial matrix, or to regenerate an unviable donor kidney. Work to produce hepatic, cardiac, bone, and muscle tissues is also under way, while several skin replacements are already available. Although the viability of bioengineered tissue is often limited by inadequate vascularity, a team from Japan has developed a technique using microchannels that effectively perfuses tissues.

Image courtesy of Massachusetts General Hospital

The Smartphone Physical?

Search for "health apps" in the iTunes Store and it's settled: Cybermedicine is here. Health-related smartphone applications now number into the tens of thousands and are being increasingly used by both patients and clinicians. But perhaps more revolutionary are smartphone-compatible updates on classic medical devices. AliveCor's Smartphone electrocardiogram (ECG) can record and save hearth rhythms using finger electrodes. Delaware-based Dario has developed a pocket-sized glucometer that connects to a smartphone; a corresponding app records and tracks glucose readings. Finally, CellScope is currently finalizing a smartphone otoscope, demonstrated by Medscape Editor-in-Chief Eric J. Topol, MD, on the Colbert Report, as well as a dermatologic smartphone imaging attachment. Patients will be able to visually track ear and skin ailments and relay images to their clinician.

Screengrab from Comedy Central

3D Printing

Certainly the stuff of science fiction, who would have thought printing body parts would be possible? But in February 2012, scientists from the Netherlands announced they had fitted an 83-year-old woman with an artificial jaw made on a 3D printer. The implant was made of titanium powder and fused together using lasers. Making it was the tough part, said researchers, because it involved the use of "articulated joints, cavities to promote muscle attachment, and grooves to direct the regrowth of nerves and veins." Printing it, though, took just a few hours.

In May of this year, US researchers, in a study partially funded by the National Institutes of Health, used 3D printing of cartilage cells and nanomaterials to create functional ears that receive radio signals. The authors say the study demonstrates that it may one day be possible to use 3D printing to create bionic tissues and organs. In addition, well over 90% of in-ear hearing aids are now made on 3D printers.

Image courtesy of Princeton University

Genomics Have Arrived

In a May 14 New York Times op-ed, actress Angelina Jolie revealed that she had undergone a bilateral mastectomy due to having a pathogenic BRCA1 mutation. The announcement brought major public awareness to genomic medicine, a field playing an increasing role in clinical care. Genetic screening and personalized therapies have existed in oncology for some time, but more recently, complete genome sequencing has provided invaluable genetic insights into not just cancer, but numerous other conditions as well. The ambitious Collaborative Oncological Gene-environment Study recently identified over 80 susceptibility genes for breast, ovarian, and prostate cancers; genetic contributions have also been identified in diabetes, cardiovascular disease, psychosis, and numerous other conditions. Hopefully, this information will lead to more effective, personalized treatments, such as crizotinib, an anticancer drug approved for non-small cell lung cancer only in patients with a particular gene rearrangement. Medscape Editor-in-Chief Eric J. Topol, MD, recently wrote, "I could not have foreseen these rapid developments, which will clearly catalyze the use of DNA data to day-to-day care of patients."

Graphic from Wikimedia

Watson, the Supercomputer

Watson, IBM's supercomputer, wasn't invented just to win the game show Jeopardy!. Watson's ability to process 200 million pages of content in less than 3 seconds has made it a hot commodity in the healthcare industry. It's already used by the likes of insurer WellPoint and Memorial Sloan-Kettering Cancer Center (MSKCC).

Mark G. Kris, MD, chief of thoracic oncology at MSKCC, talked about Watson in a previous commentary. "As we move forward, we are increasingly being asked to show that our decisions are correct, on the basis of the medical evidence. …The Watson technology would allow us to do that automatically. By its nature, it would show that our decisions are evidence-based."

Dr. Topol recently discussed how Watson could be integrated into a clinician's smartphone. "Can you envision the day when…you could process so much information in such a short time through a smartphone for complex diagnostic challenges, or even treatments? This is an exciting link…to look forward to in the years ahead."

Image courtesy of Wikimedia

Robotic Surgery

For a while, it seemed like the human surgeon might become obsolete. The Da Vinci robot was hailed as a scientific breakthrough for many procedures, from gastric banding to prostatectomies to hysterectomies, when it was FDA-approved about a dozen years ago. But recent focus on the high cost of robotic surgery, a spike in reported adverse events, and a lack of evidence that the surgery actually improves patient outcomes has some clinicians and FDA officials questioning this cutting-edge technology.

While the jury is still out as to whether the problems with robotic surgery are related to the technology itself, user error (a surgeon performs the operation via the robot remotely), or overeager hospital systems determined to offer patients the latest and greatest technology even if it is somewhat untested, many in the medical community believe surgeons should nonetheless proceed with caution "in the absence of additional research or decreases in price" and offer patients more than one option when it comes to surgical procedures.

Image courtesy of Intuitive Surgical Inc.

Paging Dr. Robot

In February, the FDA cleared the first remote presence (RP) robot for use in hospitals. The RP-VITA (iRobot), made by the same company that makes the robotic vacuum Roomba, allows doctors to monitor and interact with patients remotely.

Physicians communicate with patients via a computer monitor. The robot is equipped with state-of-the-art navigation and mobility technology, which allows it to move from patient room to patient room and up and down hospital hallways, as well as telemedicine and electronic health record integration, according to maker iRobot. The FDA approved the device for use before, during, and after surgery and for cardiovascular, neurological, prenatal, psychological, critical care, and examination uses.

Physicians operate the sci-fi-like device from a remote position using a joystick or mouse connected to a desktop or laptop computer via an Internet connection.

Image courtesy of iRobot

Heart

As with other types of organ failure, there was a time when transplantation was the only option for a failing heart. But artificial hearts and left ventricular assist devices (LVADs) have created a bridge to organ transplantation, allowing patients with heart failure to live longer while waiting for a donor heart.

LVADs have become so reliable that some in the medical community believe patients using them should be moved down on transplant lists, because most patients with LVADs live longer and with fewer complications than patients who cannot use these devices.

And artificial hearts aren't just getting better, they're getting smaller. In May 2012, Italian doctors saved a 16-month-old boy with dilated cardiomyopathy by implanting the world's smallest artificial heart to keep him alive for 13 days until a donor was found. The tiny titanium pump weighed just 11 g; an adult device weighs about 900 g.

Image courtesy of Berlin Heart Inc.

Face and Limb Transplants

In 2005, the world's first partial face transplant was successfully conducted in France. Eleven partial face transplants were performed in both the United States and abroad, when the first full face transplant occurred at the University Hospital Vall d'Hebron, Barcelona, Spain, on March 27, 2010. That patient, a 30-year-old man, received a full facial composite tissue allotransplantation (FCTA), which included the face with all its aesthetic and functional features (forehead, nose, eyelids, cheeks, lips, chin). A year later, the first full face transplant was performed in the US on a 25-year-old Texan at Brigham and Women's Hospital in Boston. Hand transplants are also becoming more common and are done using donor skin, bone, tendon, muscle, and vessels. The advantage of transplanting hands, as opposed to using prosthetic hands, is that they have a more natural feel and appearance. Hand and face transplants are becoming more common but are still done sparingly, due to ethical concerns and existing medical hurdles.

Image courtesy of AP Photo/Brigham and Women's Hospital, Lightchaser Photography