She worked with researchers at the University of Manchester in England to identify volatile biomarkers for Parkinson’s disease that may lead to first noninvasive screening
Clinical pathologists and medical laboratories are used to working with certain biological indicators that drive diagnostics and clinical laboratory testing. Mostly, those biomarkers are contained within various liquid samples, such as blood and urine. But what if a person’s odor could accurately predict risk for certain diseases as well?
Joy Milne, a retired nurse from Perth, Scotland, is the women whose heightened sense of smell enabled her to detect her husband’s Parkinson’s a decade before he was diagnosed with the disease.
Of course, Milne did not know at the time that what she was smelling was in fact a disease. She told NPR that she first noticed that her husband’s smell had changed from “his lovely male musk smell,” which she’d noticed when they first met, into “this overpowering sort of nasty yeast smell.”
Frequent washing did not remove the odor and as time went on the smell became stronger. When aspects of her husband’s personality and sleep habits also began to change, Joy convinced her husband, Les Milne, an anesthetist, to seek a diagnosis, thinking he had a brain tumor. Les was diagnosed with Parkinson’s disease.
It was 20 years later, when the Milnes attended a Parkinson’s disease support group, that Joy recognized the same distinctive smell she had noticed on Les on the other members of the group. That’s when the Milnes first realized Joy’s heightened sense of smell was something quite unique and possibly unprecedented.
Retired nurse Joy Milne (above) of Perth, Scotland, has an uncanny ability to diagnose Parkinson’s disease based on her highly sensitive sense of smell. Before her husband was diagnosed with the disease, she noticed a change in his smell. When she later recognized the same distinct odor among participants in a Parkinson’s support group, the Milnes asked scientists to investigate. (Photo copyright: NPR.)
Dogs Can Do It, Why Not Humans?
The concept that a disease gives off an aroma that can be detected by humans or animals is not far-fetched. As far back as 2013, Dark Daily was writing about such research. For example, in “C. diff-sniffing Beagle Dog Could Lead to Better Infection Control Outcomes in Hospitals and Nursing Homes,” we wrote about one hospital’s innovative approach to early detection of Clostridium difficile (C. diff) infection using a two-year-old beagle named Cliff that was faster at detecting certain infections than standard clinical laboratory tests used daily in hospitals throughout the world.
Thus, when the Milnes approached Dr. Kunath about Joy’s ability to “smell” Parkinson’s, they were on solid ground. However, he was not convinced.
“It just didn’t seem possible,” Kunath told NPR. “Why should Parkinson’s have an odor? You wouldn’t think neurodegenerative conditions such as Parkinson’s, or Alzheimer’s, would have an odor.”
But Kunath reconsidered after learning of research presented during the Experimental Biology annual meeting in 2019, which showed canines can in fact effectively detect lung cancer biomarkers in blood serum.
He contacted Milne and devised an experiment in which a group of people who had Parkinson’s disease, and another group that did not, would take home t-shirts and wear them overnight. The next day the t-shirts were assigned randomized numbers and put in a box. Milne then smelled each of the 12 t-shirts and assigned each one a score.
Kunath told NPR that Milne was “incredibly accurate.” She had misidentified only one shirt worn by a person in the control group. She incorrectly diagnosed the person with Parkinson’s. However, three months later, that man was in fact diagnosed with Parkinson’s, meaning Joy’s accuracy was 12-for-12.
“She was telling us this individual had Parkinson’s before he knew, before anybody knew,” Kunath told the BBC Scotland.
In an ensuing study, “Discovery of Volatile Biomarkers of Parkinson’s Disease from Sebum,” published in 2019 in ACS Central Science, the researchers describes the “distinct volatiles-associated signature” of Parkinson’s disease, which includes “altered levels of perillic aldehyde and eicosane, the smell of which was then described as being highly similar to the scent of Parkinson’s disease by our ‘Super Smeller.’” Joy Milne co-authored the study.
The concept of the human body producing volatile chemicals that can serve as biomarkers for disease or illness is not new to clinical laboratory professionals. The urea breath test, for example, to detect the presence of active H. pylori bacteria in the stomach is a longstanding example of one such diagnostic test.
Barran led a larger Manchester University study which was published on ChemRxiv, titled, “Sebum: A Window into Dysregulation of Mitochondrial Metabolism in Parkinson’s Disease,” which was funded by a Michael J. Fox research grant (12921). Barran and her research team, which included Milne, “found 10 compounds linked to Parkinson’s by using mass spectrometry and other techniques” on skin sebum samples, reported NPR.
“We really want to know what is behind this and what are the molecules. And then, [determine if] the molecules [can] be used as some sort of diagnostic test,” Kunath told NPR.
A Definitive, Noninvasive Test for Parkinson’s?
The UK researchers discovered in the skin sebum volatile biomarkers of Parkinson’s disease that may lead to development of the first definitive test for the disease.
Katherine Crawford, Scotland Director of Parkinson’s UK, aka the Parkinson’s Disease Society of the United Kingdom, said a noninvasive diagnostic test for Parkinson’s would be game changing.
“We still effectively diagnose it today the way that Dr. James Parkinson diagnosed it in 1817, which is by observing people and their symptoms,” Crawford told BBC Scotland. “A diagnostic test like this could cut through so much of that, enable people to go in and see a consultant, have a simple swab test and come out with a clear diagnosis of Parkinson’s.”
“It wouldn’t have happened without Joy,” Barran told BBC Scotland. “For all the serendipity, it was Joy and Les who were absolutely convinced that what she could smell would be something that could be used in a clinical context, and so now we are beginning to do that.”
A viable, working diagnostic test based on these new biomarkers may be years away. Nevertheless, clinical laboratory leaders will want to follow the ongoing efforts toward development of a noninvasive swab test for Parkinson’s disease. Such a breakthrough would revolutionize Parkinson’s testing and might never have come to light without the persistence of a woman with an extremely sensitive sense of smell.
As CMS price transparency rules go into effect, and demand grows for publishing provider charges, consumers are becoming aware of how widely healthcare prices can vary
With the COVID-19 Coronavirus pandemic saturating the news, it is easy to forget that clinical laboratories regularly conduct medical tests for influenza, the common cold, and other illnesses, most of which are affordable and covered by health insurance. So, how did a common throat culture and blood draw result in a $25,865 bill?
That was the question a New York City woman asked after a
doctor’s visit for a sore throat that resulted in a five-figure charge. This
should not simply be dismissed as another example of hidden prices in clinical
laboratory testing or the true cost of medical procedures shocking a healthcare
consumer. The issue is far from new.
For example:
An Indiana girl’s snake bite at summer camp in 2019 resulted in a $142,938 bill, which included $67,957 for four vials of antivenin and $55,578 for air ambulance transport, reported Kaiser Health News (KHN);
In 2019, Dark Daily highlighted a New York Times article showing the insurer-negotiated price of a common blood test could range from $11 to $952 in different major cities;
In 2018, Dark Daily spotlighted a Kaiser Health News story about a $48,329 bill for outpatient allergy testing; and
In 2013, Dark Daily reported on a patient’s $4,317 bill for blood work done at a Napa Valley medical center, which a national lab would have performed for just $464.
Prices Vary Widely Even Within Local Healthcare Markets
As the push for price transparency in healthcare increases, exorbitant patient bills—often tied to providers’ chargemaster pricing—add to that momentum. Consumers now recognize that prices can vary widely for identical healthcare procedures, including clinical laboratory and anatomic pathology group tests and procedures.
However, on January 1, 2021, price transparency will get a major boost when the Centers for Medicare and Medicaid Services (CMS) final rule requiring hospitals to post payer-negotiated rates for 300 shoppable services goes into effect. Clinical laboratory managers and pathologists should be developing strategies to address this changing healthcare landscape.
Until price transparency is the norm, examples of outrageous pricing are likely to continue to make headlines. For example, National Public Radio’s (NPR) December 2019 “Bill of the Month,” titled, “For Her Head Cold, Insurer Coughed Up $25,865,” highlighted a recent example of healthcare sticker shock.
New York city resident Alexa Kasdan’s sore throat resulted in a $28,395.50 clinical laboratory bill (of which her insurer paid $25,865.24) for a “smorgasbord” of DNA tests aimed at explaining her weeklong cold symptoms. NPR identified the likely causes for the sky-high charges. In addition to ordering DNA testing to look for viruses and bacteria, Kasdan’s doctor sent her throat swab to an out-of-network lab, with prices averaging 20 times more than other medical laboratories in the same zip code. Furthermore, the lab doing the analysis, Manhattan Gastroenterology, has the same phone number and locations as her doctor’s office, NPR reported.
In contrast, NPR learned that LabCorp, Kasdan’s in-network laboratory provider, would have billed her Blue Cross and Blue Shield of Minnesota insurance plan about $653 for “all the ordered tests, or an equivalent.”
Ranit Mishori, MD, MHS, FAAFP (above), Professor of Family Medicine at the Georgetown University School of Medicine and Senior Medical Advisor for Physicians for Human Rights, maintains patients should not hesitate to question doctors about the medical tests they order for them. “It is okay to ask your doctor, ‘Why are you ordering these tests, and how are they going to help you come up with a treatment plan for me?’” Mishori told NPR. “I think it’s important for patients to be empowered and ask these questions, rather than be faced with unnecessary testing, unnecessary treatment and also, in this case, outrageous billing.” (Photo copyright: Primary Care Collaborative.)
Hospitals Can ‘Jack-up’ Prices
The Indiana girl’s snake bite at summer camp last year became another example of surprisingly high medical bills. Nine-year-old Oakley Yoder of Bloomington, Ind., was bitten on her toe at an Illinois summer camp. The total bill for treating the suspected copperhead bite was $142,938, which included $67,957 for four vials of antivenin and $55,578 for air ambulance transport, KHN reported.
The summary of charges her parents received from Ascension St. Vincent Evansville hospital included $16,989.25 for each vile of anti-venom drug CroFab, five times as high as the average list price for the drug. Until recently, KHN reported, CroFab was the only antivenom available to treat pit viper bites, which created a monopoly for the drug maker’s expensive-to-manufacture product. Though the average list price for CroFab is $3,198, KHN noted hospitals can “jack-up the price.”
While Yoder’s family had no out-of-pocket expenses thanks to a supplemental insurance policy through the summer camp, Yoder’s father, Joshua Perry, JD, MTS, Professor of Business Law and Ethics at Indiana University Kelley School of Business, knows his family’s outcome is unusual.
“I know that in this country, in this system, that is a
miracle,” he told KHN.
The push for healthcare price transparency is unlikely to
wane. Clinical laboratory leaders in hospitals and health networks, as well as
pathologists in independent clinical laboratories and anatomic pathology groups,
should plan for a future in which consumers demand the ability to see pricing
information before obtaining services, and regulations require it.
Pathologists in medical laboratories creating laboratory-developed tests (LDTs) should be aware that some in the scientific community want more transparency about technology and methods
Developers of clinical laboratory tests and medical diagnostic technologies might soon be feeling the pressure to increase their push for transparency and standards that ultimately would make replication easier.
That’s thanks to a review project’s inability to reproduce results from three of five high-profile cancer studies.
The review project is called the Reproducibility Project: Cancer Biology and is a collaboration between network provider Science Exchange of Palo Alto, Calif., and the Center for Open Science in Charlottesville, Va. They attempted to independently replicate selected results from high-profile cancer biology papers in an open fashion. (more…)
Inexpensive packing material pops up as an alternative to high-cost glass lab equipment for simple diagnostic tests, a potential boon in developing nations
By turning Bubble Wrap into a cheap alternative to glass test tubes and culture dishes, Harvard University scientists may have found a way to cushion clinical laboratories in developing countries from the high cost of basic lab gear.
This latest discovery is significant because it adds to the growing number of in vitro diagnostic testing systems that potentially can generate results as accurate as those produced in today’s state-of-the-art medical laboratories, but at a much lower cost. (more…)
NPR stations in San Francisco and Los Angeles crowdsourced healthcare cost data from listeners to reveal arbitrary pricing of medical services
Over the past two years, Dark Daily has published a number of stories dealing with price transparency, or lack of it, most of which involved government agencies or nonprofits concerned about the high cost of healthcare services. This latest effort to shine a light on healthcare pricing, however, comes from National Public Radio (NPR).
San Francisco’s NPR station, KQED, initiated PriceCheck, an innovative project designed to reveal just how arbitrary medical pricing is in California, in June 2014. KQED partnered with Los Angeles’ NPR station, KPCC, and ClearHealthCosts.com, a New York City start-up that publishes a national list of low to high charges for common healthcare services, to crowdsource healthcare cost data.
The two NPR stations appealed to listeners to share the charges they paid for four medical services: mammograms, lower-back MRIs, IUDs, and diabetes testing. Hundreds of people responded to share prices they paid for these services, and thousands of people looked up prices on ClearHealthCosts.com. (more…)
