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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.

This is the December 2014 issue of Clinical Chemistry, Volume 60, Issue12

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.

On the cover this month: Inside a Vial Store. As new technologies are developed for using biological specimens to diagnose and treat disease, as well as to evaluate genetic risks, both researchers and patients are becoming more aware of the importance and benefits of biobanking. The last 2 decades have seen an increasing interest in the collection and storage of biological samples for further investigation. Although the number of biological specimens that have been collected and stored worldwide is not known, it is likely to be in the millions. This issue of Clinical Chemistry contains a Q and A feature in which 5 experts focus on quality management, biobank network design, the long-term sustainability of biobanks, public perceptions, and the controversial issue of returning of research results to biospecimen donors.

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.

Translation of novel biomarkers into clinical care for the evaluation of therapeutic safety and efficacy has been slow and the degree of rigor with which new markers and methods to measure them are validated varies considerably. In an opinion article published in the July issue of Clinical Chemistry, Drs. Russell Grant and Andrew Hoofnagle provide some guidance with a minimal list of experiments that would allow potential users of novel biomarkers to evaluate their quality and potential reproducibility.