Stool DNA Test Beats Existing Noninvasive Screen for Colorectal Cancer

In a side-by-side comparison, a noninvasive, multitarget stool DNA test proved to be more sensitive than a fecal immunochemical test (FIT). This result, published March 19 in the New England Journal of Medicine, suggests that the DNA test, which includes quantitative molecular assays for genetic abnormalities related to cancer, could significantly improve the effectiveness of colon cancer screening.

The FIT test detects hidden blood in the stool, a potential signal for cancer. In contrast, the DNA test includes quantitative molecular assays for KRAS mutations, aberrant NDRG4 and BMP3 methylation, and β-actin, plus a hemoglobin immunoassay.

The effectiveness of the DNA test was established in a study that evaluated nearly 10,000 asymptomatic patients who were deemed to be at average risk of developing colorectal cancer. It turned out that 65 (0.7%) of these patients had colorectal cancer, and 757 (7.6%) had advanced precancerous lesions. When these patients were screened, the study determined that the sensitivity for detecting colorectal cancer was 92.3% with DNA testing and 73.8% with FIT.Stool DNA Test Beats Existing Noninvasive Screen for Colorectal Cancer

via GEN | News Highlights:Stool DNA Test Beats Existing Noninvasive Screen for Colorectal Cancer.

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Semiconductor Based Diagnostic Technologies Could Revolutionize Personalized Medicine

The final cost of the Human Genome Project has been estimated at approximately $2.7 billion. At the time, researchers predicted costs would need to fall significantly to enable routine genome sequencing and usher in a new era of personalized and predictive medicine. In late 2001, at a scientific retreat convened by the National Human Genome Research Institute, the threshold cost of $1,000 per genome was conceived. Consequently, the “$1,000 genome” has been chased by DNA sequencing platform developers ever since.

With the recent launch of the HiSeq X Ten system, Illumina appears to have breached the $1,000 barrier to sequence a human genome in a single day. Illumina’s “$1,000 genome” claim is inclusive of instrument depreciation, consumables, DNA extraction, library preparation, and estimated labor. Although the exact cost is widely debated, this indicates a “real-world” figure rather than an abstraction of direct sequencing costs. In this context, it would appear that the personalized medicine era envisioned in 2001 has officially arrived.

Semiconductor Based Diagnostic Technologies Could Revolutionize Personalized Medicine

via GEN | Insight & Intelligence™: Semiconductor Based Diagnostic Technologies Could Revolutionize Personalized Medicine.

A 50-cent microscope that folds like origami –

Perhaps you’ve punched out a paper doll or folded an origami swan? TED Fellow Manu Prakash and his team have created a microscope made of paper that’s just as easy to fold and use. A sparkling demo that shows how this invention could revolutionize healthcare in developing countries … and turn almost anything into a fun, hands-on science experiment.

An Equation to Describe the Competition Between Genes

In biology, scientists typically conduct experiments first, and then develop mathematical or computer models afterward to show how the collected data fit with theory. In his work, Rob Phillips flips that practice on its head. The Caltech biophysicist tackles questions in cellular biology as a physicist would—by first formulating a model that can make predictions and then testing those predictions. Using this strategy, Phillips and his group have recently developed a mathematical model that accounts for the way genes compete with each other for the proteins that regulate their expression.

A paper describing the work appears in the current issue of the journal Cell. The lead authors on the paper are Robert Brewster and Franz Weinert, postdoctoral scholars in Phillips’s lab.

via An Equation to Describe the Competition Between Genes | Caltech.