We’ve discussed dark matter before. Understanding the unobserved and unknown areas of the human genome could ultimately lead to a better understanding of cancer and, subsequently, better treatment options. A Dark Daily news briefing reported recent studies in dark matter, which cited the telomerase reverse transcriptase (TERT) gene as being linked to melanoma. Separate research projects in Germany and at Harvard Medical School noted the role of an overactive TERT gene in cancerous cells.

According to the article, Rajiv Kumar, BSc, MSc, MPhil, PHD, from the German Cancer Research Center, along with Dirk Schadendorf, MD, PhD, of the university Duisburg-Essen, conducted an investigation finding 14 members of a family with a history of melanoma to have TERT gene mutations. Continuing this study, they also performed research on patients with non-inherited form of the disease. 70 percent of the samples also showed changes in the TERT gene.

“Altogether, this discovery could cause us to think more creatively about the possible benefits of targeting TERT in cancer treatment or prevention,” said Levi A. Garraway, PhD, an assistant professor at the Dana-Farber Cancer Institute at Brigham and Women’s Hospital.

Across the pond in the US, Franklin Huang, MD, and doctorate student, Eran Hodis, performed their own series of tests at Harvard Medical School in which they also found mutations in 89 percent of their original melanoma samples after whole genome sequencing. After adding 51 additional specimens, the number of samples yielding mutations was 71 percent. According to the article, Garraway’s laboratory is affiliated with Harvard University and Massachusetts Institute of Technology.

The Dark Daily briefing cited the TERT gene as being one of the encoding factors of telomerase, an enzyme that “promote[s] cell longevity” by protecting telomeres. Developing a better understanding of dark matter DNA and previously unknown sequences can introduce us to more potential dangers, like mutations in the TERT gene, and change the way physicians are prepared for diagnosis and treatment. 

The more we learn about our own bodies, the more it seems like there’s just an endless war going on in there. Scientists have long since known about helpful bacteria inside of our bodies that help prevent infections, but an article from Medical News Today cited a US study from researchers at San Diego State University that noted viruses within the human body that also perform defensive tasks. Post-Doctoral Fellow, James Barr, and his research team dubbed the protective viruses “bacteriophages.”

“Taking previous research into consideration,” said Barr. “We are able to propose the Bacteriophage Adherence to Mucus -- or BAM -- is a new model of immunity, which emphasizes the important role bacteriophage play in protecting the body from invading pathogens.”

According to the article, there are 3.3 million gut flora microbes living in the mucus lining our intestine. To put that into perspective, that number is only slightly less than the entire population of Los Angeles, CA. The article compares the number to the 23,000 genes in the human genome, dwarfing our DNA. The researchers described the internal viruses as a new kind of immune system, with bacteriophages “not host-derived,” but “recruited form the environment to live in mutually beneficial partnership” with our immune systems.

“We envision BAM influencing the prevention and treatment of mucosal infections seen in the gut and lungs,” continued Barr, “having applications for phage therapy and even directly interacting with the human immune system.”

The implications of internalized, defensive viruses, protecting us from infection could change the treatment of diseases as well as the way we study our own immune systems. Barr later noted how the discovery of the BAM model could “have a significant impact on numerous fields.” By allowing bacteriophages to counter the effects of dangerous bacteria and specifically targeting pathogens, the treatment of Crohn’s Disease and other inflammatory bowel diseases stands to improve greatly. 

The AACC is urging laboratory professionals to contact their members of Congress and request that they support H.R.1248, the Newborn Screening Saves Lives Reauthorization Act, which would preserve recent advances in state newborn screening programs. Earlier legislation contributed to a dramatic expansion in newborn screening for treatable core conditions, according to an AACC release. In 2007, only 10 states and the District of Columbia screened for 29 of the 31 treatable conditions. That number has increased to 44 states, in addition to the District. H.R.1248 will help maintain these gains and more, the release noted.

AACC urges you to take one minute out of your day to send a pre-written e-mail letter to your Member of the House of Representatives urging them to co-sponsor this vital legislation. Afterwards, AACC will send you an e-mail confirming your letter.

If you have any questions, please contact Vince Stine, PhD, AACC's Director of Government Affairs, at 202-835-8721.

QuiqMeds, a Pennsylvania-based company located outside of Philadelphia, deals in a very different type of vending machine. With 6 machines located in local physician’s offices in the area and plans to increase that number in the region before expanding outside of Pennsylvania to other states that allow prescription drugs to be provided by physicians directly, the company stands to change the practice of medication distribution. An article from Philadelphia Business Journal details the company, its founders and leadership and the implications of the first generation of vending machines dealing specifically with prescription drugs.

As much as I would love to tell you all that the generics are located on the shelf directly above your go-to bag of Doritos, sadly these machines deal strictly in prescriptions and can be found the physicians’ offices directly. Company founder, James Judd, MD, noted the benefits of easy-access prescriptions located right in the doctor’s office allowing for improved patient compliance with medicinal instructions. According to the article, the machines carrying between 30 and 40 generic medications based on “a product line of more than 100” available to patients immediately after the prescription is ordered.

“We have a very fragmented health-care delivery system,” said Melvin H. Stein, who was recently hired as the company’s first full-time CEO, in the article. “That’s one of the reasons why health care costs as much as it does. Providing medication at the point of care seems so obvious and simple, but you needed this technology to make it happen.”

 The story went on to discuss concerns with the medication-peddling vending machine in the rest of the industry, citing the rise of physicians providing prescription drugs as a response to pharmacies hiring nurses for care station that provide basic medical procedures. Professionals like Michael Cohen, RPh, MS, ScD, FASHP, president of the Institute for Safe Medication Practices, spoke out against the program, calling it “a conflict of interest” due to physicians profiting from the sales rather than pharmacies.

Regardless of the pros and cons regarding the company’s vending machines, the implication of more readily available generic medication offered in the same place that the prescription was ordered -- like a medicinal Redbox -- stands to increase savings and convenience for patients. 

“Dark matter” sounds like something George Lucas would tell us is at the heart of the empire. In reality, it’s the parts of the human genome that science has yet to identify -- which still sounds like it belongs in a sci-fi movie, but the discovery could provide researchers with a new type of specimen with which to analyze the human genome. A news briefing from Dark Daily notes the potential of the unknown genes and the impacts of the methods used to study it.

According to the briefing, researchers at the Research Institute of Molecular Pathology (IMP) in Vienna analyzed and calculated the unknown or “non-coded” parts of the Drosophila fly’s genome, an insect commonly studied in genetic research. Dark Matter makes up the majority of the genome (“roughly 98 percent”), and in studying it, scientists have provided new information that is “significant for pathologists and clinical laboratory managers, particularly in the investigation of cancer” -- the benefits of which include new procedures and approaches for diagnostic testing, “a new source of diagnostic information” and the study provide a new kind of specimen.

“When applied to the Drosophila genome,” wrote the IMP research team. “STARR-seq identifies thousands of cell type-specific enhancers across a broad continuum of strengths, links differential gene expression to differences in enhancer quality and creates a genome-wide quantitative enhancer map. This map reveals the highly complex regulation of transcript, with several independent enhancers for both developmental regulators and ubiquitously expressed genes.”

The new technology, STARR-seq, short for “self-transcribing active regulatory region sequencing,” helps researchers to calculate and analyze the information gathered from dark matter. Understanding unknown DNA sequences can assist laboratorians and researchers in the diagnosis of inherited diseases like cancers. In mapping these sequences and organizing them into databases, healthcare profession can identify these diseases more quickly and accurately.

The Dark Daily briefing called the study “a huge leap forward” in genetic testing and diagnosis. For clinicians and pathologists, the new technology allows for “more precise diagnostic and therapeutic information,” and allows physicians to make more informed decisions in regards to potential treatment options. 

There’s a scene in the 60s-era AMC series “Mad Men” that involves a pregnant woman smoking and drinking while her friend’s child runs around with a dry cleaning bag over her head. All of this happens in the space of about a minute, and there are so many things done wrong during that time that, by today’s standards, you can’t help but wonder how anyone even managed to survive the 1960s unscathed. A recent and somewhat horrifying news briefing from Dark Daily took us on a similarly cringe-inducing trip down memory lane to the days of mouth pipetting.   

Yes, you read that correctly -- and it’s exactly what it sounds like.  According to the news briefing, mouth pipetting was a common practice up until the first mechanically adjustable pipetting came into the market in the 1970s. The process functions on the same science that you probably utilized as a kid, right before you fired Dr. Pepper at your sister’s face with the straws at chain restaurants. Sucking in liquid and holding it in, you used the suction so that you could move the straw around without anything coming out.  It was just like that – only, you know, with diseases and a pipette.

Feeling better about your lab’s safety regulations yet?

Obviously, there were some flaws in the practice.  The Dark Daily piece noted the first recorded case of accidental infection was in 1893, “when a physician accidentally sucked a culture of typhoid bacilli into his mouth.”  It also chronicled some of the comments on the original post from “Body Horrors,” the accurately-named blog from Discover Magazine, in which people shared stories about mouth pipetting.  One commenter noted on one of her own experiences, where she was startled by the phone ringing and accidently “gulped” – which, among other things, means office pranks back then must have been pretty dicey. You can read more of the comments in the Dark Daily briefing or on the original blog post by Rebecca Kreston.

Feeling queasy yet? Because it’s not even over – the scariest part of these articles isn’t that people subjected their mouths to potentially dangerous specimens, or that it took almost 70 years to stop doing it in the US (for the most part) after the initial accident – it’s that it’s still going on.  Both articles noted that, in developing nations, mouth pipetting is still in practice.  Right here in the US, the Discover blog cited instances as recent as 1998. Enjoy your lunch!

ADVANCE Discourse: Lab

Knowing

Let’s forget about money for a second. I know that can be difficult – what, with all of those pesky adult responsibilities and everything, but bare with me.  If money wasn’t an object, and your physician wanted to order a test that you knew wouldn’t be covered under your insurance, would you get it?  Of course you would – who wouldn’t?  Now, factor the money back in.  Has your answer changed?  A recent Siemens Healthcare survey yielded interesting results for people in the US.

“There is simply a rational, financial and emotional value to knowing if you are sick,” said Gregory Sorenson, MD, CEO of Siemens Healthcare. “The survey findings show clearly that Americans want to know exactly where they stand when it comes to their health.”

If Schoolhouse Rock taught us anything, it’s that “knowledge is power.” With that in mind, here are some statistics for you.  According to the Siemens Survey, a staggering 92 percent of Americans place as high a value on actually having a doctor readily available as they do on being educated about their problem.  Even if there was no cure or treatment available, 78 percent of us would still want to be tested.  Now, ask yourself – would you? 

“As a physician, I know first-hand there is great value in excluding a diagnosis. This is a critical step to ensure that patients avoid unnecessary, expensive medical inter-ventions,” (Sic.) continued Sorensen. “Medical Imaging and diagnostic menologies were not developed to drive up costs. They were developed to improve health.”

The study was referred to in the Siemens press release as the “Value of Knowing” survey, and Sorensen cited the results as “eye-opening.” He also went on to discuss the benefits and effectiveness of medical imaging, which provide people with “peace of mind” – something Americans clearly do not view as overrated. The following statistics were among those listed in the press release:

• 66 percent of Americans would even be willing to pay out of their own pocket for tests to diagnose serious illness if there were such a test but it was not covered by their insurance.

• 56 percent have had and/or someone in their family has had an illness or injury that was at least in part diagnosed using a medical imaging scan.

• 87 percent agree that ruling out a diagnosis can save money in costly treatments that may not have been needed.

• 83 percent agree that even if medical technologies and tests are expensive, they save money in the long run by helping doctors to get to the right diagnosis more quickly.

• Women over age 45 are more likely than men of the same age to agree that the value of knowing exactly what is wrong is as important as having access to a doctor in the first place. (99 percent of women age 45-54; 97 percent aged 55 and older compared to 92 percent and 91 percent of men, respectively).

• 80 percent of Americans are concerned that the Government is making decisions about their medical care purely on the basis of cost; 89 percent feel that way about insurance companies.

• Only 8 percent say that they and/or someone in their close family has been denied access to medical imaging device testing by a doctor or hospital; of those, 59 percent say it was due to cost, while the rest (41 percent) say it was for a medical reason.

To view more figures, take a look at the Healthcare Sector’s press release regarding the survey. 

The rise of personalized treatment has healthcare professionals completely rethinking the way they treat cancer. At the molecular level, each is different and should be treated accordingly, but similarities shouldn’t be ignored either. A study from the Cancer genome Atlas (TCGA) Research Network on endometrial tumors divided the cancer types into for groups, and examined how we can treat specific cases by studying work on different cancerous tissue with similar properties.

“This study highlights the fact that some tumors with the same characterization by pathologists maybe have very different molecular features,” said Douglas A. Levine, MD, head of the gynecology research laboratory at the Memorial Sloan-Kettering Cancer Center, in an article from Newswise. “That’s where these findings will be directly implemented in additional research, and also in the context of clinical trials.”

According to the Newswise piece, by studying genomic similarities between cancers of different tissue, researchers were able to group endometrial cancer into four different subtypes -- the POLE ultramutated group, named for the abnormally large number of mutations that occur in the POLE gene -- a characteristic shared with colorectal cancers; the hypermutated microsatellite group, which also had a large number of mutations, just not in the Pole gene; the copy number low group, which had “a high frequency of mutations in CTNNB1, a gene critical for maintaining the linings of organs,” but also had the most stability in microsatellites; and the copy number high subtype, which produced endometrial tumors with properties closer to serous tumors. Each group demonstrated similarities to cancers in other tissues, such as breast, ovarian and colorectal.

“Each tumor subtype might warrant dedicated clinical trials because of the marked genomic differences between them that are indicative of different drivers of cancer,” said Elaine Mardis,, PhD, co-director of the Genome Institute at the Washington University School of Medicine. “Developing therapies for each subtype independent of the other may improve outcomes, as has been shown in breast cancer.”

Cancer used to be referred to in the general sense, and then it was called by whatever was affected -- breast cancer, prostate cancer, etc. When genetic technologies emerged and researchers started evaluating things at the molecular level, individual cancers became unique. Lately, we've gone full circle. Researchers are finding similarities again -- just in terms of the genetic factors that made each one so distinctive in the first place. With the rise of personalized medicine, diseases aren't treated so much as cellular mutations are adjusted -- how will our genetic know-how transfer in treatment from cancer to cancer? 

Imagine a healthcare facility where a small sample of blood is taken as you walk in the door, just .25 attomoles -- you’d barely notice. They drop your sample into a small, handheld device and, by the time your physician has come to see you, they are ready to tell you if they would like further testing for diseases like Alzheimer’s or cancer based on the early-detection results from their handheld test. A Dark Daily news briefing recently announced that scientists in Japan have developed a device that could turn that hypothetical situation into reality.

“Rapidness, simple operation, small required sample volume and portability of the device are ideal advantages for point-of-care cancer diagnosis,” wrote researchers Hideyuki Arata, PhD, Hiroshi Komatsun and Kazuo Hosokawa, PhD, in a study published in PLOS ONE.

Researchers at the RIKEN Advanced Science Institute in Japan developed the lab-on-a-chip technology, making the new device possible. While initial efforts in development required too large a sample size for a practical application, the project’s second generation success allows for an enhanced examination of smaller samples while providing a quick 20 minute turnaround time for results. This technology marks a step in the right direction for progress in point-of-care testing (POCT).

“The development of an inexpensive and rapid point-of-care test capable of spotting early biomarkers of disease could therefore save many lives,” RIKEN pointed out in a story on their website.

Although the RNA-reading-microchip technology is regarded as a scientific breakthrough, the device will still have to undergo several more rounds of revision and modification before it is ready for clinical trials. The Dark Daily briefing cited the device as “signal[ing] a new paradigm for clinical laboratory testing.” In the meantime, the implication of handheld POCT equipment opens new doors to testing in “research-poor” areas both foreign and domestic -- allowing healthcare facilities to expand their communities, while providing fast, on-the-go diagnosis and treatment around the world. 

With genetic research has come the realization that cancers are unique -- not just in terms of where they are in the body, but in their molecular make up. Although the industry is focusing on personalized medicine as a treatment option recently, some researchers can’t help but wonder about the prospect of a universal treatment, a drug to fight multiple cancers. According to a recent article from the New York Times, this might not be completely out of the realm of possibility.

It all comes down to p53, a protein Gary Gillilan, Md, PHD, Merck Research Laboratories, cited as the “angel of death” for malfunctioning cells in the New York Times piece. The protein works by starting the malfunctioning cell into the process that would cause it to self-destruct. Mutations in cancerous cells disable the function of this protein, or bind it with “another cellular protein that blocks it.” The article goes on to note, “The dream of cancer researchers has long been to reanimate p53 in cancer cells so they will die on their own,” and notes the three pharmaceutical companies -- Roche, Merck and Sanofi -- that are attempting to do just that.

“This is a taste of the future in cancer drug development,” said Otis Webb Brawley, MD, chief medical and scientific officer of the American Cancer Society, in the New York Time piece -- later continuing, “I expect the organ from which the cancer came from will be less important in the future and the molecular target more important.”

Despite efforts to reform p53 in mutated cells, the new drug comes as a separator for cells in which the protein has been bound to an inhibitor, getting in between to pry apart and, eventually, release the protein. Continued research into the drug -- which could potentially be used to treat many different types of cancer characterized by a malfunctioning p53 protein -- depends wholly on the results of clinical trials. One Sanofi researcher, Laurent Debussche, PhD, described it as “a go/no-go situation.”

The impact of a singular effective treatment for multiple forms of cancer could provide future solutions based even more strongly in genetic research. Rather than fighting the prostate; the pancreas; the breast; doctors could potentially fight cancers at the molecular level regardless of location. Regardless of the outcome of the trial, the idea of a drug that can simultaneously be personalized and still work on a broad scale stands to influence the way treatment is viewed in terms of cancer. 

During a hospital visit, a doctor will often ask about pain, but how can it be better calculated beyond just words? A story from NPR followed researchers led by Tor Wager, PhD, associate professor of psychology and neuroscience from the University of Colorado at Boulder, who found a way to measure pain by scanning the brain activity of those experiencing it. The prospects of pain treatment and understanding -- along with the treatment and understanding of many feelings -- are poised to develop in light of the research team’s recent findings.

“The hope is if we could peer into people’s brains,” explained Wager. “We could understand that different kinds of pain are created by very different brain systems and we could tailor our treatments to those systems.”

According to the Wager, the researchers used a specific device to “produce a safe and very reliable source of painful input to the brain” -- a hot plate hooked up to a computer to induce carefully controlled amounts of heat to the patient’s arm -- and utilized a technique called functional magnetic imaging resonance (fMRI) to understand brain reactions in response to pain. In a continued experiment in emotion pain, the team also scanned to brain activity of volunteers who had recently gone through a break up. Although the results registered “remarkably similar,” there was no fooling the readings -- the pattern of brain activity between emotional and physical pain could be distinguished from each other.

“There’s no other way to measure emotion besides asking how people feel,” continued Wager. “So the broad hope is that we can take steps toward building a neuroscience of emotion that’s anchored in objective neurophysical measurements of the brain, as well as reports of emotion.”

A concern cited in the experiment was the idea of using the brain readings as proof that what a patient is experiencing is actually pain. Wager discussed the caution that should be taken to avoid a “pain lie detector,” while other scientists noted the potential dangers of the experiment in common practice. These include possible complications with insurance companies and the fundamental importance of doctors listening to their patients. Despite concerns, the experiment marks an interesting development -- not only in the treatment of pain, but also in the understanding of other types of emotions. 

The idea of making a potentially dangerous drug less prone to abuse is something that stands out in the effort to stop prescription drug misuse in the United States. Many companies have incorporated time release capsules to curb the possibility of abuse, but sometimes that just isn’t enough. According to a recent New York Times piece, Purdue Pharma released an “abuse resistant” version of Oxycontin, “a time release form of a narcotic called oxycodone,” in 2010.

More recently, the patent for the original 1995 formula was facing expiration, opening production up to generic vendors. Much to the surprise of the pharmaceutical industry as a whole, however, the Food and Drug Administration halted the production of generic OxyContin earlier this week in favor of Purdue’s more “abuse resistant” alternative. Rather than being easily crushed into powder and delivering a dose all at once, the new form of the drug remains a “jellylike mass” -- allowing it to maintain its time release properties even after being crushed.

The New York Times article called the decision a major policy move, noting that the drug “symbolize[s] a decade-long epidemic of prescription drug abuse.”

According to the article, not only did the FDA bar generic productions of the original OxyContin formula, but also disbanded the 1995 formula as a whole as it recognized the newer version as being less prone to abuse. This marks the first time a drug has been approved as “abuse resistant.” Having no generic competitors, the resulting sales of the new OxyContin are going to see a 13 percent increase ($6.80 for a 40mg tablet compared to $6.00 for the same dose of the original version of the drug).

 Due to the success of Purdue Pharma, other drug companies like Endo Pharmaceuticals have also filed reports of drugs that are “tamper-resistant.” The article went on to mention that some of these companies only released updated versions of these drugs as their respective patents were set to expire, citing a response from the FDA, calling the effort on behalf of Endo Pharmaceuticals “a thinly veiled attempt to maintain its market share and block generic competition.” 

Most of us know amyotrophic lateral sclerosis (ALS) by its other name, Lou Gehrig’s disease. After a recent preliminary trial at Emory University yielded positive results, a phase II trial has been approved by the FDA. An article from Newswise described the first phase of the trial as fairly successful, stating all procedures were “delivered safely and tolerated well.”

The second phase could potentially take the trial back to the University of Michigan, home to Eva Feldman, MD, PhD, professor of neurology, research director and direct in the University of Michigan’s Medical School, ALS Clinic and A. Alfred Taubman Medical Research Institute respectively -- who is the principal investigator, now acting as an unpaid consultant on the trial, which will use injections of stem cells into the upper portion of the spinal cord. The injections will be delivered by neurosurgeon Parag Patil, MD, PhD, and contain doses of stem cells ranging up to 400,000 cells with as many as 40 injections.

“In Phase II, we’ll be injecting stem cells into the upper part of the spinal cord, and our goal is to continue to assess whether this approach is safe, and to look at whether this approach offers some benefit to our patients,” said Feldman. “We are very pleased at the potential to bring this trial to the University of Michigan, where the initial research behind this technology was done -- as well as having it continue at Emory.”

According to the article, an FDA approval paved the way for the trial to take place at the University of Michigan, but that decision will ultimately be left up to the University’s Institutional Review Board. The goals of the second phase of the trial are to study an increase in dosage (from 100,000 cells to up to 400,000 cells), and to looks for reactions in patient symptoms or the disease’s progress. The Newswise story went on to note that, in one group of participants from phase I, “ALS progression may have been interrupted.”

As research and testing become more targeted and precise, experiments like this act as a stepping stone across a potential sea of real life applications, treatments and therapies. The positive results of phase I bode well for phase II in the ALS trial.  Regardless of the outcome, however, the implications of testing the use of stem cells in treatment stretch beyond ALS to any number of diseases. 

I’ve discussed the introduction of human genes into test mice before, but apparently rats are showing much more promise in Alzheimer’s research. A recent article from NPR discussed the need for a better model for humans in the study and, potentially, the treatment of Alzheimer’s. After studying genetically altered mice and later rats with no progress, the discovery of a line of rats with health problems more similar to humans holds promise.

“It’s a big step forward,” Roderick Corriveau, PhD, program director at the National Institute of Neurological Disorders and Stroke (NINDS), said in the NPR article. “The closer the model is to the human condition in representing the disease, the more likely the drug will behave and cure the way it would in humans.”

 As Alzheimer’s progresses, the human brain develops amyloid plagues, which are followed by large number of brain cells dying -- resulting in deteriorating mental health. According to the NPR story, the problem with the mice was, like humans, they would develop the plagues, but none of the following symptoms ever followed. As rats are closer to humans in regards to evolutionary status, the switch was the best available option and, since then, studies have been promising.

“We thought that they would sort of be on the cusp of normal aging,” said Terrence Town, PhD, professor of physiology and biophysics at the University of Southern California, in the NPR story. “And then if we added into that mix these mutant human genes that cause Alzheimer’s, we might have a much better and much more full model of the human syndrome.”

The resulting genetically-altered rats suffered symptoms similar to humans, including Amyloid Plagues, loss of brain cells (30 or 35 percent, according to the article) and diminished mental faculty. Among other things, the Alzheimer’s-prone rodents were even noted to have eventually lost the ability to navigate mazes. The article went on to state that Town’s lab has already started testing Alzheimer’s drugs, which could lead to the first look at the first potential human cure -- or, at the very least, improved treatment. 

With so many new technologies emerging in recent years, trying to combine multiple advances can be challenging, especially when those advances haven’t been standardized yet. In a recent article from Newswise, doctors and researchers from both the Mayo Clinic and Harvard Medical School discussed “a new problem in the delivery of personalized medicine: comprehensive and consistent data reporting.” Christopher G. Chute, MD, from the Mayo Clinic noted on the promise of health information technology as genomic research continues to rise.

“We need more standards in how these discoveries are recorded and collated,” said Chute in the Newswise story. “This fosters comparable and consistent data that improves the application of health information technology for better patient care.”

This lack of standardization is poised to make trouble for healthcare facilities, which are already seeing a need for experts in bioinformatics to translate and understand the mass amounts of data from tests like genetic sequencing. Chute, along with fellow author Isaac Kohane, MD, from Harvard Medical School and a team of researchers pointed out 3 necessities in the normalization of genomic data. The authors cited “coherent, consistent and uniform naming,” an “authenticated, well-annotated, curated and freely accessible knowledge base of genomic associations, risks and warnings” and a need for standardized rules that can be accessed and integrated into the electronic medical records (EMRs) in any healthcare facility.

“Any expectation that a clinician can or should ‘know’ the vast permutation of emerging genomic influences on disease risk, treatment, or prognosis,” wrote the Mayo Clinic and Harvard Medical School authors. “As well as the interactions of these influences with drugs or other diseases or, most confusingly, their co-occurrence with other genomic or environmental factors is unrealistic.”

Studies like the one performed by the Mayo Clinic and Harvard Medical School continue to better incorporate genomic treatments and findings into everyday patient care. Until healthcare facilities can find a way to incorporate the increasingly large amount of information afforded by technologies like genetic sequencing in a universal and concise way, however, physicians will remain restricted by access to more organized results.