News
Is Genetic Testing Part Of The Solution To The Opioid Crisis?
A new test from Prescient Medicine, a predictive health and analytics company, aims to de-risk the prescription of opioid painkillers by using genetic testing to determine the likelihood that a patient will become addicted before they are given the medication. Called LifeKit Predict, the test, according to Prescient, can determine with 97% sensitivity whether an individual will become dependent on opioids, and will enable doctors to opt for a non-opioid treatment course instead.
Prescient, so far, claims that around 10% to 20% of the population demonstrates a gene composition that indicates a greater capacity for addiction. Currently, the company is working with several health practitioner partners to figure out how best to integrate the test into the diagnosis and treatment workflow; they’re running five pilot projects with LifeKit across the country.
Prescient started by researching the potential addictive properties of 10,000 genes–around one-third of the human genome. Over the years, they whittled the list down to 16 genes and their variants (alleles) particularly involved with drug metabolism and brain reward pathways. In a recent paper published in the Annals of Clinical and Laboratory Science, Prescient described analyzing how these particular 16 genes appeared in 37 patients with a history of opioid addiction; they matched those samples with 16 random control samples to get a sense of the variance in the composition and prevalence of the genes. From that initial sample, Prescient developed the LifeKit algorithm, which scores a patient out of 100, with anything over 52 representing an elevated risk of addiction.
Related article: AACC Releases Practice Guidelines for Using Laboratory Drug Tests to Combat Opioid Addiction, Overdoses
Scientists identify what may have killed millions in mystery epidemic
In the 16th century, an epidemic known as "cocoliztli" that caused bleeding and vomiting swept through large areas of Guatemala, Mexico and even reached Peru. It wiped out 80 percent of the population, killing millions of people.
Ancient DNA and a new technique have been used to determine the likely cause of this mysterious epidemic that contributed to a "cataclysmic" population decline.
Salmonella genomes, which cause typhoid fever, were recovered from DNA within the teeth of 10 skeletons buried in an undisturbed "cocoliztli" or "pestilence" cemetery in Oaxaca, Mexico. This would be the first known occurrence of salmonella in the Americas, according to a new study published in the journal Nature. Typhoid fever has long been suspected due to the recorded symptoms, but this is the first identification of bacteria at the site.
A new screening technique called the Metagenome analyzer Alignment Tool, or MALT, allowed the researchers to search for all bacterial DNA present, rather than testing for each specific possibility — which can be tedious and disappointing. It’s the classic "needle in a haystack" scenario.
MALT revealed Salmonella enterica Paratyphi C, the bacterial cause of enteric/typhoid fever, which has been the suspected cause of the epidemic for years. Identifying the bacteria supports the typhoid hypothesis. Symptoms of typhoid fever include high fevers, red spots dehydration, bleeding, vomiting and gastro-intestinal issues.
Clinical Chemistry
Albumin-to-creatinine ratio: assessing kidney function highlights the importance of automated urinalysis
The presence of increased amounts of protein (albumin) in urine, or microalbuminuria, is a key indicator of kidney function and is routinely used to monitor the health of patients with diabetes mellitus. This article stresses the importance of routine testing for urine albumin to assess kidney function as an aspect of overall patient health. It also highlights the significance of performing automated complementary urinalysis tests when kidney damage is detected.
Click on the article title above to read the article.
Hematology
In hemostasis; two hot-button testing issues
Having validation data to support the use of age-adjusted D-dimer cutoffs with the D-dimer assay your laboratory uses is a must, and know well the limitations of point-of-care prothrombin time/INR testing.
1. The D-dimer test has attracted attention of late because age-adjusted D-dimer cutoffs are part of an American College of Physicians clinical guideline for ruling out acute pulmonary embolism.
The ACP guideline authors took an "algorithmic approach to all steps of pulmonary embolism diagnosis, starting with assigning a clinical prediction score," said Dr. Moser, an assistant professor of pathology at Saint Louis University School of Medicine. In general, they recommend patients with a low or intermediate pretest probability of pulmonary embolism undergo D-dimer testing. Those who have a high pretest probability should proceed to imaging.
"Contained within this overall document," Dr. Moser said, "the ACP guideline tells us that clinicians should use age-adjusted D-dimer thresholds, defined as the patient’s age times 10 ng/mL, rather than a generic cutoff of 500 ng/mL, in patients older than 50 years to determine whether imaging is warranted."
2. Point-of-care PT/INR testing has been in the hot seat for a number of reasons, among them a highly publicized recall of an INR monitoring system and other FDA-related issues.
Dr. Russell Higgins, MD, associate clinical professor, Department of Pathology and Laboratory Medicine, University of Texas Health Science Center at San Antonio, and medical director of UHS Pathology Services, encouraged the CAP17 audience to think of the laboratory INR as different from a point-of-care INR, which he noted has unique features. "First of all, we use whole blood in point of care often through a fingerstick. As the blood is traveling through that wound, it is exposed to tissue factor and the clotting process is beginning. So you really have to get that drop of blood on the meter as quickly as possible so you get the right answer. That’s something we don’t deal with in the laboratory."
Dr. Higgins presented a vignette involving a 45-year-old male patient who was bridged from low-molecular-weight heparin to warfarin. The patient had a point-of-care INR result of 5.2. The central lab INR was 2.7.
Low-molecular-weight heparin was the likely culprit. Dr. Higgins said the POC devices may not contain heparin neutralizing substances: "Central lab INRs do contain substances that neutralize heparin, usually up to one unit per mL, and they can be used for bridging warfarin from heparin therapy. But the point-of-care devices shouldn’t be used in this way." He also stressed that point-of-care or laboratory INRs cannot be used to monitor any of the direct oral anticoagulants.
To read more about these two topics click on the article title above.
Transfusion Medicine
Israel to Lift Gay Blood Ban
Israel will soon lift its ban on blood donations from men who have sex with men.
The country's ministry of Health declared Wednesday that it would allow gay and bi male donors, regardless of the timing of their last sexual encounter.
In place of forced abstinence, Magen David Adom, the country's blood bank service, proposed a "double testing" system. Developed by Dr. Eilat Shinar, MDA's director of blood services, this system screens the donation twice for HIV — first at the time of donation, and second at the time of infusion. Inbetween, the blood will be stored for a four-month period in a freezer.
The country's ministry of Health then approved the system for a two-year trial period.
Microbiology
Artificial intelligence used to identify bacteria
Microbial identification has been streamlined in recent years through rapid methods and computer reading. However, a skilled microbiologist is often required. Can AI replace the need for the microbiologist?
In the new research, the scientists have experimented with microscopes enhanced with artificial intelligence. These are designed to assist microbiologists diagnose microorganisms. The technology has been developed with the medical microbiology community in mind. In trials, they showed how an automated artificial intelligence-enhanced microscope system was "highly adept" at identifying images of bacteria quickly and accurately. This was undertaken by training a convolutional neural network, a type of artificial intelligence modeled on the mammalian visual cortex, in order to categorize bacteria based on their shape and distribution. The images were of microscope slides where bacteria had been stained using the Gram-stain.
The morphological characteristics were selected to represent bacteria that most often cause common infections, including the rod-shaped bacteria including Escherichia coli; the cocoidal clusters of Staphylococcus species; and the pairs or chains of Streptococcus species. In all, some 25,000 images were used to train the platform. The success rate was put at 95 percent.
According to lead researcher Dr. James Kirby: "This marks the first demonstration of machine learning in the diagnostic area. With further development, we believe this technology could form the basis of a future diagnostic platform that augments the capabilities of clinical laboratories, ultimately speeding the delivery of patient care." One advantage here is that images can be sent remotely and read by the artificial intelligence anywhere in the world.
Anatomic Pathology
Housewife sues medical lab and pathologist for negligence after husband dies of skin cancer
The widow of an IT specialist who died from skin cancer in 2013 is seeking damages of at least $10.4 million from a medical laboratory and a pathologist. Housewife Carol Ann Armstrong, 52, alleged that Quest Laboratories and its medical director, Dr Tan Hong Wui, were negligent for failing to detect a malignant cancer in a skin sample taken from her husband Peter Traynor in 2009.
In 2009, Mr. Traynor developed a skin lesion on his back that became ulcerous. He saw a general practitioner, who removed a piece of his skin and sent it to the lab for a pathology report. The report issued by the lab stated that there was "no malignancy".
More than two years later, in January 2012, Mr Traynor sought medical attention for a swelling under his armpit and underwent tests which showed cancer spreading to other parts of the body. His oncologist recalled the 2009 specimen and another pathologist concluded there was malignant cancer. Mr Traynor was treated for cancer but died in December 2013 at the age of 49.
Ms Armstrong sued the lab and Dr Tan in 2015. Among other things, she is seeking about $3.3 million in dependency claims and about $5 million for loss of inheritance, which is the wealth her husband would have accumulated had he not died.
She contended that the missed diagnosis deprived her husband of medical treatment for two years. If the cancer had been correctly diagnosed, allowing him to be treated, he would have had at least a 64.4 per cent chance of long-term survival.
The lab argued that Dr Tan had conducted a proper examination of the specimen and arrived at a reasonable finding. The lab argued that even if the cancer was diagnosed in 2009, the treatment he would have received would likely not have made a difference to his survival. Dr Tan noted that the same specimen was seen by three other pathologists who arrived at different diagnoses. He argued that a difference in opinion did not mean that he was negligent.
Molecular Genetics
LabCorp patents autism diagnosis method
LabCorp has received a patent on a method for diagnosing autism spectrum disorders.
The method, invented by David Michael Margulies and Mark Firman Bear of Massachusetts, involves taking a tissue or body sample from a subject and then conducting a test to identify variant sequences in the subject’s genetic code, which may signify "the presence or an increased risk of developing autism spectrum disorders." Testing can be done on children and fetuses, according to the patent.
The method is stated to aid in the diagnosis of five autism spectrum disorders, all of which fall under the umbrella of pervasive developmental disorders: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s disorder, and nonspecific pervasive developmental disorders.
Currently, diagnosis of autism spectrum disorders is based almost entirely on behavioral observation. Subjects must display six of 12 symptoms within the three categories of social impairment, communication impairment, and "a restricted repertoire of activities and interests" in order to be diagnosed, as outlined by the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders. According to the patent, misdiagnosis occurs frequently and, as such, definitive diagnostic testing is needed to identify these disorders.
Direct to consumer genetic testing set for big growth despite clinical and ethical challenges
As people learn more about the crucial role of genetics in health and the cost to sequence genes continues to decrease, the worldwide market for direct-to-consumer (DTC) genetic tests could triple over the next five years, according to a new report from Kalorama Information.
The DTC genetic testing market was around $99 million this past years, according to the research firm, and could grow to more than $310 million in 2022.
"With the increased use of the Internet for medical information, consumers have become medical consumers not just patients," according to Kalorama. "This has created a change in the doctor/patient relationship as individuals become more knowledgeable about their own health and want more control over their personal information and treatment decisions."
Physicians, meanwhile, are concerned about giving patients too much access to information they may not properly understand. Even many doctors aren't well-trained in the clinical implications of genetics and genomics.
In response to some of these ethical dilemmas about the interpretation and use of genetic test results, many testing companies have employed onsite genetic counselors to help consumers make sense of the information.
Medical Laboratory Education
Class act in Ohio expands pool of phlebotomists
After two rounds of a new program to train high schoolers in phlebotomy, OhioHealth is seeing the fruits of its efforts. It has hired 19 of its trainees and a third course, set to begin next month, has 20 high school seniors enrolled.
In 2015, the Delaware Area Career Center (DACC) reached out to OhioHealth to discuss a partnership that would add phlebotomy to the DACC’s established two-year health technology program for high school juniors and seniors.
OhioHealth jumped at the chance to prepare students to step into phlebotomy roles at any of its 66 laboratory sites. "We decided we could train our own and we didn’t need to depend on these other outside programs," Marci H. Dop, OhioHealth system vice president for laboratory services, says.
OhioHealth laboratory services management staff, including Karen Byrnes, director of laboratory services, created the phlebotomy program curriculum for seniors in their last semester of high school. Byrnes and outreach phlebotomy manager Tina Manganello had experience teaching high school and college-level students, so they wrote the curriculum for 90 hours of in-class lectures and laboratory activities, including a review of the circulatory, skeletal, and respiratory systems, and the Clinical and Laboratory Standards Institute rules for venipuncture collection.
OhioHealth will use a different tactic to address its laboratory medical technician shortage, Dop says. The health system plans to work with a local temporary hiring agency to recruit college graduates with biology degrees who have been struggling to find full-time employment.
“You have a lot of students who got biology degrees who thought they were going to medical school and then it never worked out,” Dop says.
The plan includes hiring college graduates through the temporary employment agency and assigning them to work side by side with OhioHealth laboratory medical technicians. Program participants will receive instruction from an OhioHealth educator and take online courses. At the end of the two-year program, the graduates will sit for the American Society for Clinical Pathology medical laboratory technician certification exam.
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