The National Cancer Institute has started several significant clinical trials to confirm what is believed intuitively about precision medicine: that molecular characterization of tumors leading to personalized therapy may be more effective than standard cancer treatments. Announced in August of 2015, an NCI-sponsored effort called Molecular Analysis for Therapy Choice has 10 trial arms, with additional arms opening in April or May of 2016, with an ultimate goal of enrolling 3,000 patients. (More information about the MATCH trial can be found here.)

Vaccines“Knowledge of science is one of the most beautiful things humans have to offer each other.” Alan Alda, Actor and Science Communicator, who has a namesake Alan Alda Center for Communicating Science, Stony Brook University.

It is hard to believe that next-generation sequencing has only been around for a little over ten years, but has had a profound impact on many frontiers of basic and applied genetics. To contrast the first-generation (Sanger sequencing by capillary electrophoresis) and the next-generation sequencing (NGS) approaches, we provide you with this infographic.

Fetal aneuploidy affects about 9 in 1,000 live births. The definition of aneuploidy is an abnormal number of chromosomes ; with 23 pairs of chromosomes in humans, 46 is the normal number, while aneuploidy individuals will have 45 or 47. In trisomy, there is one additional chromosome, typically chr21, 18 or 13 (it is not a coincidence that these are the smallest chromosomes in humans). Historically, the invasive methods amniocentesis and chorionic villus sampling (CVS) were used with risk to the pregnancy, with about a 1% chance of miscarriage due to the procedure. Non-invasive methods based upon ultrasound and serum biomarkers are useful screening tests, but were of limited reliability as they were indirect measures of chromosomal abnormalities1.Photograph courtesy of Flickr user Can H.

Micrograph of Lung Carcinoma Fine Needle Aspirate courtesy of Ed Uthman via Flickr This year's Association for Molecular Pathology conference was held in Austin Texas November 4-7 2015 had the theme of 'Realizing the Dream of Precision Medicine'. Here are a few of the presentations that stood out as outstanding, and the conference program indicates where the field of molecular pathology currently places its emphasis (which is primarily oncology) and where it may be headed in the coming years (including rare genetic disorders, non-invasive prenatal testing, and even a plenary on the human microbiome).

The Association for Molecular Pathology (AMP) was founded 'to provide structure and leadership to the emerging field of molecular diagnostics', and publishes the Journal of Molecular Diagnostics.

The science of metrology is tightly coupled with biological science, in tandem with biology becoming less descriptive and more quantitative over the past half-century. The US National Institute of Standards and Technology (NIST), an agency of the US Department of Commerce, has been established to ‘promote U.S. innovation and industrial competitiveness by advancing measurement science, standards and technology in ways that enhance economic security and improve our quality of life’.

The annual meeting of the Association for Molecular Pathology will be held this year in Austin Texas from November 4-7, 2015. Laboratory Directors, Medical Directors and Pathologists worldwide will be hearing about the latest in clinical laboratory practices as well as the latest translational research being applied in the clinical setting.

In this video interview Dr. Greg Tsongalis addresses sources of pre-analytic variability when processing formalin-fixed, paraffin-embedded (FFPE) samples in a pathology laboratory setting. By 'pre-analytic', he refers to the kinds of kits used for DNA extraction, and other factors that may have a significant impact on the quality of the results. He also discusses his work on clinical assay development for somatic mutation detection using NGS technology.