Clinical Chemistry Podcast

Advances in clinical laboratory testing have had a profound impact in improving the quality of medical care. Today laboratory diagnostic tests inform physicians and patients of the exact causes of a number of diseases and disorders, including cancer, chronic diseases, infectious diseases, sexually transmitted diseases, and genetic disorders.

In the past decade there has been a rapid increase in the number of individuals who have had their entire genome sequenced. Over the next decade that number will go from the thousands to the millions. These people are having their genomes sequenced for research, recreational interest, and clinical testing.

Vitamin D insufficiency has been widely associated with numerous negative health outcomes, including higher all-cause mortality, although no mechanism has been formally established for such observations.

Clinical trials, epidemiologic and most types of clinical research, include the acquisition of biological samples to be analyzed either immediately after collection, or in the future for biomarkers related to the study hypotheses. Tested biomarkers include those used to monitor subjects' health and to detect harmful side effects or to follow impact of therapeutic interventions.

Biomarkers are playing increasingly important roles in the detection and management of patients with cancer. Despite an enormous number of publications on cancer biomarkers, few of these biomarkers are in widespread clinical use.

Biomarkers are playing increasingly important roles in the detection and management of patients with cancer. Despite an enormous number of publications on cancer biomarkers, few of these biomarkers are in widespread clinical use.

A major objective of the International Federation of Clinical Chemistry and Laboratory Medicine, or IFCC, Task Force on implementation of Hemoglobin A1c Standardization is to develop quality targets with the measurement of Hemoglobin A1c.

Medical laboratories provide valuable services to aid in patient diagnosis and management, but systematic evidence of laboratory medicine's specific contribution to the overall process of healthcare is not easy to come by. Even the widely quoted claim that laboratory medicine results are responsible for a 70% of all clinical decisions seems to elude objective verification.

Over the past 20 years or so there have been several studies published showing an association between decreased concentrations of vitamin D in blood and the risks of cardiovascular disease, stroke, cancer, fractures, even overall mortality.

Rapid urine pregnancy tests have been available for over 30 years. They can be performed in minutes and are used at home, in doctors' offices and in emergency rooms. Doctors in particular rely on these tests to rule out pregnancy in order to prevent fetal injury or death that could be caused by certain medical procedures or drugs.

Recently, the New England Journal of Medicine partnered with Area9 Learning, a physician-led pioneer in adaptive learning, to create a platform with smart technology that adapts to clinicians' learning goals and knowledge gaps to deliver the information they need to know.

Aggressive strategies to lower Low Density Lipoprotein cholesterol in circulation are recommended for prevention of cardiovascular events. Most often laboratories report LDL-cholesterol based on an equation using measured values of total cholesterol, HDL - cholesterol and triglycerides, the so called Friedewald calculation named after the first author who published that work in Clinical Chemistry back in 1972.

Medical laboratories frequently encounter clinically unexpected results that require timely clinical evaluation because they may indicate an imminent life-threatening condition or a major clinical deterioration. Laboratories, therefore, need to identify and report such results sooner than they normally would, and have policies and procedures that minimize the possibility of patient harm due to delayed clinical attention. The concept of these so-called "panic values" was raised by George Lundberg in 1970, but a variety of other terms have since appeared in the literature. For example, urgent, critical, acute, alert, abnormal, markedly or significantly abnormal, clinically significant, vital, red or orange or yellow zone values, and various combinations of terms.

In December 2013 the genetics laboratory 23andMe stopped marketing direct-to-consumer disease predictive genetic testing in order to comply with a directive from the US Food and Drug Administration. The FDA's action was intended to protect the American public from questionable disease risk predictions.

Big data now seems to be everywhere. Google search queries are used to predict flu outbreaks and airline statistics or mined to determine the best hour of which day to book plane tickets. Clinical laboratories can also benefit from these trends. Given the emerging importance of reproducible data analysis pipelines, one could think of a special group of trained big data experts that could be available to regulatory agencies and to clinical laboratories for review and auditing of their processes and practices, and who may be able to offer suggestions for improvements.

Hemoglobin A1c is widely used to monitor glycemic control and is now recommended for use in the diagnosis of diabetes. Although hemoglobin A1c has high reliability compared to the oral glucose tolerance test, there are certain settings in which such testing may be problematic and there is a growing interest in alternative markers of hyperglycemia.

Although hemoglobin A 1 C has high reliability , there a re certain settings in which hemoglobin A1C testing is thought to be problematic. 1 , 5 - anhydroglucitol or 1,5 - deoxyglucose is a monosaccharide originating mainly fr om foods and closely resembles glucose in structure , but is usually excreted by the kidneys.

Prenatal testing using blood specimens rather than more invasive sampling has been successfully used for common chromosome disorders and for clinically significant copy number variations . H owever , detecting single gene disorders which are caused by mutations remains an analytical challenge.

Human saliva has been increasingly used for biomarker development to allow noninvasive detection of diseases. Extracellular RNA was discovered in saliva about 10 years ago, and since then the nature, origin , and characterization of salivary RNA have been actively pursued.

In the last year, multiple clinical studies have shown the diagnosti c power of testing a patient's exome. Clinical exome testing is now available at over a dozen clinical laboratories in the US , and has been performed for thousands of patients.

Next generation sequencing (NGS)13 technology, also known as massively parallel sequencing (MPS), is being incorporated rapidly to clinical laboratory testing. Current applications include detection of germline variants in inherited diseases, somatic variants in cancers, subpopulations of circulating cell-free DNA, and single viral or microbial genomes in infections or metamicrobial genomes in normal or altered human flora. Each application is unique and has its advantages and disadvantages.

Extreme sports, extreme eating, extreme weight loss, extreme makeovers, just when you think you've heard it all, how about Extreme PCR?

Extreme sports, extreme eating, extreme weight loss, extreme makeovers, just when you think you've heard it all, how about Extreme PCR?

Familial hypercholesterolemia is a genetic disorder characterized by increased plasma concentrations of low density lipoprotein cholesterol and premature symptoms of coronary heart disease. Early identification of at-risk individuals allows changes in lifestyle including dietary intervention and drug treatment. In the January 2015 issue of Clinical Chemistry, a Special Issue devoted to Molecular Diagnostics, a group of researchers in a multi-center study describes a genetic risk score procedure that distinguishes familial hypercholesterolemia patients from healthy subjects.

For decades iron has been thought of as beneficial for the body. Most everyone knows that iron deficiency is harmful and that the condition should be treated by additional iron in the diet. However, too much iron can also be harmful to the body. Ferritin is a protein that stores iron and measurement of ferritin in serum is a measure of the iron deposits in the body.

Biobanking for clinical or research purposes includes the collection, processing, storage and analysis of biological specimens. It is now well-recognized that biobanking involves a complex array of technical, ethical, and regulatory considerations.

Kidney cancer is among the ten most frequently occurring cancers in the Western world and its incidence has been steadily rising each year. In the absence of symptoms, about 30% of patients with renalcell carcinomas are diagnosed with disease already in the metastatic stage.

Over the past decade genomic testing has emerged as a clinical tool available in multiple hospital and independent laboratories across the United States. In the November 2014 issue of Clinical Chemistry, an opinion article titled "Clinical Genomics: When Whole Genome Sequencing Is like a Whole-body CT Scan" framed the clinical utility of genomic testing in the context of another recently transformative test, whole-body computed tomography scanning, more commonly known as a CT scan.

In August 2014, the first patient with the Ebola virus disease arrived in the United States and was transported to Emory Hospital in Atlanta. While hospitals and laboratories knew that it was only a matter of time before this occurred, subsequent experience has shown that not all institutions in the U.S. were equally prepared for this eventuality. In this special podcast from Clinical Chemistry, we're joined by two members of the laboratory team that treated the first healthcare workers arriving from West Africa.

Thrombosis and bleeding are among the foremost causes of morbidity and mortality, and the recent introduction of novel anticoagulants, anti-thrombotic, and hemostatic drugs has increased the need for rapid and accurate assessment of their activities. While the usual laboratory assessment of hemostasis, such as prothrombin time and other coagulation tests, are often effective, these methods may not identify all bleeding disorders.

Using prohibited substances to enhance performance in sports, often referred to as doping, is a practice that's been with us all of recorded history. In ancient time, athletes or combatants were often supplied diets and supplements considered beneficial to enhance their performance.

Turnaround times are often long in PCR-based tests because multiple reactions are usually performed in parallel using programmable thermal cyclers. These methods typically use a single protocol, placing constraints on assay design.

Estimating Glomerular Filtration Rate or GFR is important for the detection and monitoring of impairment of renal function for safety in the use of potentially nephrotoxic pharmaceuticals and radiographic contrast media, and for administration of correct dosage of drugs cleared by the kidneys. Even though it is not ideal, serum creatinine is widely used as a marker for calculating Glomerular Filtration Rates.

Where are all the new omics-based tests? That's the question that Patrick Bossuyt asks in his paper appearing in the October 2014 issue of Clinical Chemistry. After billions of dollars worldwide have been spent upon omics-based research and announcements of many biomarker discoveries, clinical medicine has not gone through a radical change, despite all of the investment of time, money, and the collaboration of thousands of study participants.

Fragile X Syndrome is a severe neurodevelopmental disorder which is both complex and heterogeneous in both clinical phenotype and epigenotype. It is also one of the major inherited conditions co-morbid with autistic behaviors.

Fragile X Syndrome is a severe neurodevelopmental disorder which is both complex and heterogeneous in both clinical phenotype and epigenotype. It is also one of the major inherited conditions co-morbid with autistic behaviors.