Between the attention attracted by the 2014 movie, “Still Alice,” and
the release of new studies, Alzheimer’s disease has been a prominent topic of
conversation lately. For patients and their families, the symptoms are all too
familiar, and the origin is largely a mystery. An article
from NPR recently discussed one possible cause of the disease.
In a study examining MRIs of patients “experiencing mild
problems with thinking and memory,” researchers noticed the presence of leaky
blood vessels in the Hippocampus. Upon further investigation, the researchers
realized that the blood vessels in the hippocampus become “leakier in all
people as they age,” but this is more evident in Alzheimer’s patients. Later
studies on the autopsied brains of dementia patients confirmed “a breakdown in
the blood-brain barrier,” which allows toxins to leak into the brain, damaging
cells and tissue.
“This study gives patients and families hope for the future,
hope that detecting leaky blood vessels early will provide the opportunity to
stop dementia before it starts,” said Roderick Corriveau, PhD, program director
at the National Institute of Neurological Disorders and Stroke, in the NPR
After focusing on the hippocampus, it was discovered that
the blood-brain barrier in Alzheimer’s or Dementia patients was 50 percent more
permeable that in those of the average, healthy brain. These studies provided further evidence of
the role of vascular damage in Alzheimer’s disease. The NPR article went on to
note the use of pericyte cells, “which help prevent blood vessels in the brain
from leaking,” as a potential treatment.
While this is not a cure for the disease, it is certainly a
step in the right direction. By more fully understanding one of the causes of
Alzheimer’s disease, researchers, clinicians and physicians can be more aware
of warning signs for Alzheimer’s disease and Dementia. As such, they can begin
While the Ebola outbreak continues to impact much of West
Africa, it appears to be starting to fade at last. According to a recent article
in the New York Times, healthcare
companies GlaxoSmithKline (GSK) and Merck have will be introducing vaccines for
the Ebola Virus for testing in Liberia. The estimated 18,000 volunteers
predicted to take part in the trial in two weeks will receive either a vaccine
from one of the two companies or a placebo.
“This has been an unprecedented effort for everyone involved,”
commented Andrew Witty, GSK’s chief executive, in the NY Times story.
The article went on to discuss some of the potential
obstacles facing the trial. Although the decreased occurrence of Ebola is great
news overall, it could also impact the results regarding the effectiveness of
the vaccines as the disease diminishes. In order to avoid compromised results, the
need to introduce a greater number of participating volunteers to the trial,
expanding its reach outside of Liberia to Sierra Leone, was mentioned.
Regardless of whether or not there are enough Ebola cases,
the data provided from the study combined with existing data from animal
testing “could be enough for the vaccines to win regulatory approval from the
United States.” The article continued, noting that, even if the vaccines are
available too late given the downwards trends of this particular outbreak,
there will be others for which they will be available in the future.
Additionally, a trial for ZMapp, “a drug for patients already infected with the
virus,” will also apparently be starting soon.
The Ebola outbreak has ravaged West African countries as the
rest of the world has frantically searched for effective testing, treatments
and possible cures. The latest information on potential vaccines and drugs
ready for human trials could be good news for the individuals in danger of
being infected in current – and future -- Ebola outbreaks.
It’s no big secret that being exposed to radiation can cause
cancer. As humans, we rely on
radioactigve materials and manufacture technologies to harness that
power for our benefit, but that doesn’t keep accidents from happening.
According to an article
from Newswise, a recent study published in Stem
Cells not only examined the effects of radiation on stem cells, but also
hypothesized on how to “reprogram” the cells to prevent potentially negative
repercussions like the development of cancer.
“It’s about evolution driven by natural selection,” said
James DeGregori, PhD, investigator and molecular genetics professor at the
University of Colorado Cancer Center and School of Medicine respectively, as
well as senior author of the study. “In a healthy blood system, healthy stem
cells out-compete stem cells that happen to have the C/EBPA mutation. But when
radiation reduces the health and robustness (what we call ‘fitness’) of the
stem cell population, the mutated cells that have been there all along are
suddenly given the opportunity to take over.”
The C/EBPA mutation mentioned in DeGregori’s quote refers to
potentially life-threatening result of radiation exposure. According to the
article, radiation put hematopoietic stem cells (HSCs) at risk of
differentiating unless a mutation in the C/EBPA gene was present, allowing them
to remain stem cells while the other MSCs would die off. With no competition
from the unhealthy HSCs damaged by radiation, the C/EBPA cells would multiply
rapidly causing cancer. Despite this risk, DeGregori went on to explain that
“an infusion of healthy HSCs after radiation exposure would likely allow the
healthy blood system to out-compete the radiation-exposed HSC with their
‘programmed mediocrity’ (increased differentiation) and even HSC with
cancer-causing mutations,” essentially allowing the body recalibrate its levels
of healthy HSCs to prevent the spread of the cancer.
“If I were working in a situation in which I was likely to
experience full-body radiation, I would freeze a bunch of my HSCs,” continued
DeGregori in the Newswise story. “But there’s also hope that in the future, we
could offer drugs that would restore the fitness of stem cells left over after
The battle against cancer has seen a lot of progress as
clinical scientists and researchers have uncovered the many impacts of
molecular diagnostics. In the case of leukemias and other blood cancers,
however, the possibility of reprogramming cells to prevent the spread of
cancerous cells stands as an important step in fighting the disease.
In the age of readily available genetic sequencing, the
overabundance of data has been noted around the globe. As big data solutions
become more common and diverse, the concept of data sharing has been a focal
point of discussions regarding the future of research. A recent release from the
National Institutes of Health (NIH) announced the introduction of a final
Genomic Data Sharing (GDS) policy. The GDS will replace the previous standard,
the Genome-Wide Association Studies’ (GWAS) data sharing policy.
“Advances in DNA sequencing technologies have enabled NIH to
conduct and fund research that generates ever-greater volumes of GWAS and other
types of genomic data,” said Eric Green, MD, PhD NHGRI director, report
co-author and co-chair of the trans-NIH committee that developed the GDS
policy, in the release. “Access to these data through dbGaP [Database for
Genotypes and Phenotypes] and according to the data management practices laid
out in the policy allows researchers to accelerate research by combining and
comparing large and information-rich datasets.”
According to the NIH release, as well as another
article from the American Association of Clinical Chemistry (AACC), one of
the major concerns facing the new policy was assurance of patient privacy. In
order to alleviate these concerns, the new policy requires a two-tiered system
to ensure both anonymity for the donors and a wide variety of use for the
information available to researchers. The data must be de-identified, and
researchers are expected to obtain informed content prior to releasing that
information for further research. Additionally, scientists are encouraged to
obtain the broadest possible permissions in the potential sharing of patient
“Everyone is eager to see the incredible deluge of molecular
discoveries about disease translated into prevention, diagnostics, and
therapeutics for patients,” continued Kathy Hudson, PhD, NIH deputy director
for science, outreach and policy, in the NIH release. “The collective knowledge
achieved through data sharing benefits researchers and patients alike, but it
must be done carefully. The GDS policy outlines the responsibilities of
investigators and instruments that are using the date and also encourages
researchers to get consent from participants for future unspecified use of their
Genomic data represents the future of medicine. With the NIH’s
new data sharing policy, researchers will now be afforded less restricted access
to data, while patients can rest assured that their individual privacy remains
secure. By standardizing and increase the ability to share important genetic
information, research can excel both locally and abroad, taking into account
larger statistics for research and fostering collaboration between researchers.
All of the phlebotomists are probably cringing at the term I
used in the headline, but it seems germane considering the overwhelming number
of comments the ADVANCE editorial staff has received since the launch of our
2014 Salary Survey. (If you haven’t yet
completed the survey, time is running out! Go to http://laboratory-manager.advanceweb.com/Web-Extras/Online-Extras/The-2014-Laboratory-Salary-Survey.aspx)
Although we haven’t yet tabulated or released results, I am
saddened by many of the comments. In past surveys, many noted they felt the pay
was not on par with the amount of responsibility and level of importance that
clinical laboratory professionals of all levels have, and this year’s survey is
no exception. What is different, however, is the number of individuals who
noted they would not recommend the profession to others, or who wouldn’t have
gone into the profession had they known what they know now.
“Techs are underpaid, overworked and underappreciated, and
yet we are expected to be experts in all areas of lab medicine, serve as
consultants, perform administrative work, train new hires, conduct competency
assessment, etc. Although I love my work, if I had it to do all over again, I
wouldn't choose laboratory technology. Unfortunately, for all of the above
mentioned reasons I cannot recommend the profession to young people,” writes
And another notes: “I enjoy my job as a medical technologist,
but I am planning to leave the field within the next few years. This is due to
the fact that I have a high level of responsibility (antibody ID and selecting
compatible units for patients) but still make less than an RN with a A.S.
degree. We are also understaffed at my facility, with me being the only Blood
Bank technologist on the nightshift. The position has become highly stressful
and completely underappreciated in the healthcare setting. I am finishing my
Masters of Science, then moving to a job that is less stressful and better
There are still a handful of you who do enjoy the work you
do (thank you for those comments, too!), but it seems you are in the minority.
So how do we change this? How can this profession rally together to positively change
the perception and financial compensation for the critical role you play in
Ebola is a subject that’s been on everyone’s minds for weeks
and, as such, has received a lot of media attention. I’ve covered the Zaire
and even discussed the heroism
of those responsible for treating victims and disposing of the bodies, but the
situation in West Africa has recently expanded to the US. An article
from the New York Times detailed the
journey of a man who took a trip to visit family and ended up in isolation at a
Texas hospital, as well as the precautions being taken both by the facility and
the US government.
“We have had a plan in place for some time now for a patient
presenting with possible Ebola,” explained Edward Goodman, MD, an
epidemiologist at Texas Health Presbyterian Hospital in Dallas, Tx., where the
unidentified patient is currently being treated. “Ironically, we had a meeting
the week before of all the stakeholders who might be involved. We were well
prepared to care for this patient. ”
Passengers attempting to board a plane out of areas of West
Africa are being screened for Ebola symptoms prior to take off, but as his
symptoms hadn’t yet presented, the infected passenger was able to board his
flight to visit family in the US. After a few days, he started to get sick,
sought medical attention and was treated. According to the NY Times article, however, the early symptoms of the disease like
fever and nausea can be easily mistaken for any number of diseases – even
despite the heightened alert concerning patients with recent travel histories
in Guinea, Liberia or Sierra Leone.
After his symptoms started to worsen, the passenger went to
the hospital and was put in isolation while they awaited his test results, which
came back positive for Ebola. His family, as well as anyone he came into
contact with during the infectious period of his stay, has also been brought
into isolation. This is the first instance of Ebola in the US and the first
time it’s been diagnosed outside of West Africa. Upon confirming the test, the
CDC sent out a team to handle the situation in Texas while the Obama
administration began a massive social media campaign to calm and educate the
“You cannot get Ebola through the air, water or food in the
US,” said a post on the White House’s official Twitter account according to the
NY Times article. “Ebola can only
spread from contact with the blood or body of fluids of a person or animal who
is sick with or has died from the disease.”
The appearance of the disease in the US is unprecedented,
but healthcare facilities not unprepared. The NY Times article noted, “Many health experts said it would only be
a matter of time before it reached the United States,” and there has been a lot
of preparation across the country for such an event. Additionally, the
isolation protocols established by the CDC were described in the article, in the
words of Thomas R Frieden, MD, MPH, CDC director, as “tried and true.” He went
on, commenting, “I have no doubt that we’ll stop this in its tracks in the [US].”
It’s no big secret that clinical laboratories have been
subjected a series of strict budget and reimbursement cuts over the past few
years. Rather than easing in the coming year, these cuts are predicted to remain
equally rigid, if not more so. A recent news
briefing from Dark Daily pointed out the unprecedented nature of
cost-cutting measures in laboratories across the United States compared to any
other time in recent history.
“Labs today face a stark reality: not only are they getting
less money today from their parent organizations and health insurance plans,
but they are entering a multi-year period that will see equally dramatic
reductions in lab test reimbursement and lab revenue,” commented Robert Michel,
editor-in-chief of the Dark Daily Report and Dark Daily.
Specifically, the release noted that the current fiscal
situation in clinical laboratory is harsher than it has been in the last 25
years, and there’s no end in sight. For healthcare facilities facing reduced
funding, the Dark Daily story also discussed the impact and importance of
implementing methods like LEAN, Six Sigma and “process improvement methods with
consistent success.” According to the article, laboratories that utilize these
approaches tend to remain successful despite the new restrictions.
“Two big challenges confront the nation’s clinical
laboratories and pathology groups,” continued Michel. “One is the need to cut
costs aggressively in the face of shrinking lab budgets and failing lab
revenue. The second is how to increase the value of lab testing services the
lab delivers to physicians, patients, payers.”
These cuts are certainly not new and are predicted to continue.
As healthcare facilities stretch both funds and personnel to cover for the
increased financial pressure to continue providing the same level of care --
essentially doing more with less – managers and administrators who can roll
with the punches on cost-cutting measures to adapt are going to be the most
successful. Similarly, medical personnel are increasingly well-versed in multiple areas of
I’ve discussed the spread of the Zaire ebolavirus before,
but as it continues to overwhelm countries in West Africa, scientists have been
able to track the virus in real time. A recent article
from NPR followed a team of researchers as they collected and analyzed data on
the genetic structure of the virus from its victims in Sierra Leone. As the
researchers monitored the ebola
spread, they noticed that it was rapidly mutating, “about twice as quickly as
it did while circulating among animals in the past decade or so.”
The data was collected onsite as soon as possible and,
according to the article, resulted in the death of five scientists who
contracted the virus. Despite this, the tremendous effort led to the gathering
of 99 ebola genomes for analysis.
While the virus’ genome contains only seven genes (relatively small in
comparison to the human genome’s 20,000), the article noted that the
researchers have already, “found over 250 mutations that are changing in real
time as we’re watching” -- a figure with significant implications for current treatments, which are experimental and rely on the known genetic makeup of the virus.
Meanwhile, men and women serving in healthcare facilities,
clinics or in collaboration with Doctors Without Borders are consistently
putting themselves at risk for the dangerous infection. These are nurses,
doctors and laboratorians alike -- both local and international. One particularly
brave group of workers heroes was highlighted in another NPR story,
which followed the people responsible for collecting and disposing of the
bodies of ebola victims in Liberia.
According to the story, the virus has already been
responsible for 700 deaths and over 1,300 cases. The corpses remain highly
contagious and can add to the already devastating rate of infection in
Monrovia. These crews of “body collectors” must gather the bodies to dispose of
them safely -- a task that carries unbelievable risks -- and prevent the
further spread of the virus. In order to prepare, each collector wears
protective gear, including surgical scrubs, rubber boots, white plastic
jumpsuits, face masks and goggles -- and they all pray for luck together before
Whether it’s the scientists working to analyze the virus in
the search for a cure or the hands-on professionals working with ebola on a day-to-day basis, their role is crucial. They are all
Lately, I find myself becoming a little jealous of bears.
That’s right, bears – but not for the reasons you might think. Sure, it’d be
great to hang out in creeks during the summer months, eating nothing but fresh
salmon and berries all day, every day. I guess it’d also be pretty fantastic to
be able to hibernate and sleep away the winter too, but a recent
blog post from NPR discussed some surprising physiological advantages of bears --
specifically in terms of their body’s response to their diet.
According to NPR blog, “Grizzly bears can easily double
their body fat in the months leading up to hibernation.” This kind of rapid
weight gain in humans can lead to any number of dangerous conditions, but the
post highlighted the development of insulin resistance leading to the
occurrence of type 2 diabetes. Insulin resistance occurs when the body is
forced to “produce more and more insulin to control blood sugar,” turning it
into fat. Eventually, the body becomes resistant. Type 2 diabetes is the result
of the pancreas shutting down insulin production as a result.
So, why doesn’t this happen to grizzlies? In the blog post,
a research team from Amgen Inc., led by Kevin Corbit, PhD, discovered that the
bears become more and less sensitive to insulin before, during and after
periods of hibernation. Kara Manke, the NPR blogger, wrote, “assuming that,
like humans, bears became less sensitive to insulin when they gained weight,”
the researchers subjected each of the six bears being monitored to a relatively
small (human) dose of insulin just before they were supposed to enter
hibernation. The results were almost catastrophic.
As it turns out, unlike humans, “the bears were actually most sensitive to insulin just before
hibernation, when they were at their largest.” So, the insulin nearly killed
them due to overdose. The researchers then hypothesized
on the changing nature of the bears’ insulin resistance. In the article, Corbit
noted that figuring out what allows the bears to regulate their insulin
sensitivity could also benefit people. The impact of this could have enormous
potential for patients with type 2 diabetes.
“I think giving insulin is making people much sicker,” said Corbit in the NPR
blog. “I’m hoping that whatever we find is going to ramp up the insulin
sensitivity enough that we don’t have to supplement with insulin at all.”
The Zaire ebolavirus
and the increasingly dire situation in West Africa have been all over the news
in recent weeks. Airports and hospitals in the United States are on high alert
for suspicious cases coming out of the region to prevent the potential spread
into a new country. According to a recent Perspective
article from the New England Journal of Medicine (NEJM), there are five
known species of ebolavirus. Each of the African strains vary in severity, with
the risk of fatality ranging from 40 percent to 70-90 percent (as is currently
the case with the Zaire ebolavirus)
in the African strains.
“There is currently no licensed prophylaxis or treatment for
any ebolavirus or marburgvirus infection; therefore, treatment is merely
supportive,” wrote Heinz Feldmann, MD, in the NEJM article.
In discussing the treatment of the Zaire ebolavirus, Feldmann pointed out several promising options
being considered, including antibody treatment, modulatory RNA, the
introduction of a synthetic molecule called BCX4430 and recombinant
technology-based vaccines. With no confirmed treatment available yet, however,
the primary focus has been on diagnostics for surveillance and confirmatory
testing. Antigen detection for more immediate diagnosis, antibody detection for
confirmatory results and molecular techniques like reverse-transcriptase-PCR allow
health and safety professionals to get control of a potentially dangerous
situation quickly. Like many other outbreak scenarios, Feldmann also noted the
importance of real-time information sharing for public health.
“The latest outbreak
of Zaire ebolavirus in West Africa
has shown the limited ability of our public health systems to respond to rare,
highly virulent communicable diseases,” continued Feldmann in the article. “The
medical and public health sectors urgently need to improve education and
The article went on to discuss the importance of rapid
diagnostic capabilities, “so that local public health systems do not have to
rely on distant reference laboratories.” In order to prepare before the occurrence
of any future outbreaks, Feldmann concluded that the need to approve a
treatment method is vital to “practice cutting-edge medicine, rather than
simply outbreak control.”
We’ve discussed mobile
medicine and hand-held
technology before, but a recent partnership
between drug manufacturer Novartis and internet juggernaut Google takes the
theory to a whole new level. The two companies announced their collaboration to
develop a smart contact lens to monitor blood sugar. Apart from the obvious
implications of a “smart” piece of technology as small as a contact lens, the
impact of results and information available “almost in real-time” could change
the way diabetic patients monitor their blood sugar.
“It’s not going to happen overnight,” said Joe Jimenez, CEO
at Novartis, in the New York Times
article. “This will take a few years, as opposed to a few months.”
As a manufacturer, Novartis would understand the challenges of
the development process better than most. The company had unsuccessfully
attempted to produce glucose-monitoring contacts before. The new smart lens, based
on Google’s prototype, utilizes “miniature sensors and a radio antenna thinner
than a human hair to track glucose levels.” Additionally, Jimenez pointed out that
the partnership with Google gave the project the technological step-ahead it
needed in order to develop a more effective prototype.
“One of the biggest hurdles was miniaturization, and that’s
one of the biggest benefits that Google X brings,” he continued. “This is a set
of engineers that are really doing incredible things with technology.”
While the “smart” contact lenses remain in early stages of
development, they represent a trend in healthcare towards personalized medicine
and interactive testing. According to the NY Times story, as the general
population continues to have a greater understand and, subsequently, take more
control over their health, the healthcare and pharmaceutical industries are
seeing an increased demand for improved medical technology. As of this year,
both Apple and Samsung also offer individual health-monitoring technologies.
In public comments presented to the CMS today, the American Clinical Laboratory Association (ACLA) provided input on various aspects of implementing relevant provisions of the Protecting Access to Medicare Act of 2014 ("PAMA"), which modifies the Medicare reimbursement rate methodology for lab services.
"ACLA supports a measured and thoughtful analysis as well as robust stakeholder engagement in order to guarantee the new fee schedule continues to ensure adequate access to lab services for Medicare beneficiaries," said Alan Mertz, ACLA president.
ACLA's comments primarily focus on the need for CMS to develop or clarify definitions of several key terms, determine when private payor rates must be reported and for what timeframe, build a technology platform capable of accepting millions of discrete pieces of data, and establish coding processes for certain new tests.
A key definition identified by ACLA in its comments was "applicable laboratory" and ensuring that this encompasses the true private market. ACLA pointed out that the text of the statute, as well as Congress' intent, reflects that all major sectors of the laboratory market should be represented in reporting private payor rates, including independent laboratories and hospital outreach laboratories.
The way in which CMS defines the parameters, participants, methods, and timeframes for lab services payment rate and volume reporting, ACLA notes, will have a substantial impact on the rates that the Medicare program pays for clinical laboratory tests. It also has the potential to impact other payors' rates, as many private payors and state Medicaid programs base their reimbursement levels on Medicare rates. ACLA asserts that Medicare rates for lab services are best determined when payment and volume data reflect true market rates for clinical lab testing.
"Modifying the Medicare payment system for clinical laboratory services is a complex undertaking and ACLA is committed to ensuring the end result works for clinical labs, CMS, and Medicare beneficiaries," said Mertz. "Decisions made during this process will have a major impact on the clinical laboratory industry and the patients we serve, and it is important that those decisions work to promote ongoing diagnostic innovations and protect access to critical lab testing for Medicare beneficiaries."
To view ACLA's comments in their entirety, click here.
Researchers from the Icahn School of Medicine at Mount Sinai
and Harvard Medical School recently discovered a connection between a form of
liver cancer and two mutations in the IDH gene. Intrahepatic cholangiocarinoma
(iCCA) is the second most common form of liver cancer. Although there had
previously been evidence of IDH mutations in patients with iCCA, this study
marks the first time the exact genes, IDH1 and IDH2, have been targeted and
identified specifically as a direct link. An story from Newswise
detailed the study and subsequent findings.
“Our findings provide novel insights into the development of
iCCA and offers a possible treatment option for patients suffering from this
fatal disease,” said Josep Maria Llovet, MD, director of the liver cancer
program at Mount Sinai’s Icahn School of Medicine, in the article.
The study demonstrated the effect of mutated IDH genes using
mice, showing a decrease in the liver’s ability to health itself and an
increase in “the number of cells to form a tumor. The gene mutations also
resulted in a relationship with the KRAS gene, which is known to be linked to
the development of cancer. The combination of these factors leads to formations
of malignant legions in a liver with weakened defenses and, eventually, iCCA. According
to the story, targeting IDH1 and IDH2 as pathways for iCCA has already resulted
in new clinical trials to determine their impact on iCCA patients.
“iCCA is resistant to standard treatments like chemotherapy
and radiation,” explained Llovet. “Understanding the molecular mechanism of the
disease is the key to finding a treatment that works.”
Although the article pointed out, “there is no first-line,
standard of care and no successful therapies” for patients with iCCA, the study
has provided a necessary first step in the development of a treatment for the
disease. The discovery has opened the door for further investigation into a
relatively mysterious cancer and could potentially lead not only towards a
broader understanding, but also a successful therapy.
The emergence of whole genome sequencing has certainly had an impact on both scientific research and clinical medicine, but there are still a few remaining hurdles preventing widespread use of the technology. While the ability to interpret the raw data provided by genetic testing relies on the computing power of laboratory instruments, few laboratories have the analytical equipment capable of that kind of speed. A recent news briefing from Dark Daily noted on recent study in which researchers at the University of Chicago, using software available to the public, successfully incorporated the “Beagle” Cray XE6 supercomputer in their genetic testing.
“Whole genome analysis requires the alignment and comparison of raw sequence data,” said Elizabeth McNally, MD, PHD, professor of medicine and human genetics and director of the cardiovascular genetics clinic at the University of Chicago’s School of Medicine, in the Dark Daily briefing. “[This] results in a computational bottleneck because of the limited ability to analyze multiple genomes simultaneously.”
According to the release, the research team was able to analyze 240 whole genomes simultaneously. Using the “Beagle,” for their study, titled “Supercomputing for the parallelization of whole genome analysis,” they looked at sequencing information from 61 patients -- which took less than 50 hours and only 25 percent of its total capacity. To put this into perspective, the Dark Daily briefing pointed out that, for a 2.1 GHz CPU, it would take “roughly 47 years to analyze the same data.” Because of this, most current laboratory practices simply analyze the human exome, which is comprised of only about 2 percent of the human genome responsible for protein coding. Although the briefing noted that this is considered to be the basis of 85 percent of “disease-causing mutations,” the ideal method for research would include the whole genome -- an approach that isn’t currently feasible for consistent use.
“By paying close attention to family members with genes that place then[m] at increased risk, but who do not yet show signs of disease, we can investigate early phases of the disorder,” continued McNally. “In this setting, each patient is a big-data problem.”
New screening technologies are continuing to improve the accuracy of testing technologies, but the laboratory’s ability to breakdown and investigate the results of those tests quickly and accurately is every bit as important. By successfully utilizing the “Beagle” supercomputer in the analysis of raw genetic data, the researchers at the University of Chicago have opened the door to improved options for understanding sequenced information. The potential of quicker interpretation capabilities in whole genome sequencing could lead to more standard genetic tests with faster turnaround times and, subsequently, a more cost-effective laboratory model.
A mouse is a mouse is a mouse is a mouse – or so the
research community had thought. As it
turns out, a major component has been missing from the majority of animal testing
for clinical drug production: more female animals. In a recent article
from the New York Times, experts in
the field discussed the importance of incorporating more female subjects into
clinical testing and the subsequent impacts of current, male-dominated models
on women in terms of side-effects after production.
“One of the underlying assumptions has been that females are
simply a variation on a theme, that it isn’t a fundamentally different
mechanism, that if you’ve learned about the male you’ve learned enough to with
both males and females,” said Jill Becker, PhD, a senior research scientist at
the University of Michigan, in the article. “We’ve discovered that’s not always
The use of male animals as the primary subjects in clinical
testing has resulted in some particularly harsh and often serious consequences
for women once a drug has already been in production due to different
physiological responses to a variety of treatments. An example of this is the
FDA’s recent warning for women to cut Ambien pills in half because the female
metabolic process in slower in processing the active ingredient. According to
the NY Times Piece, the NIH has new policies regarding male and female testing
scheduled to be introduced in October, with exceptions most likely to be made
for gender-specific ailments like prostate and ovarian cancers.
“Every cell has a sex,” explained Janine A. Clayton, MD,
director of the NIH office of research on women’s health, in the story. “Each
cell is either male or female, and that genetic difference results in different
biochemical processes within those cells.”
The article also predicted some resistance among scientists
in the research community due to additional strains the new regulations might
place on experiments as the inclusion of animals of both sexes could
potentially double the number of subjects needed to deliver the necessary
results. Additionally, the article noted scientists' concerns regarding the need
for more extensive calculations made to factor in changes in hormones and the
reproductive cycle. On the other hand, the long-term decrease in serious, potentially
harmful side effects of drugs incorrectly calibrated for women stands to
drastically improve the effectiveness of clinical medications.