Publication focus: high quality genome-wide genotyping from archived dried blood spots without DNA amplification

High Quality Genome-Wide Genotyping from Archived Dried Blood Spots without DNA Amplification
Krystal R. St. Julien et al. PLoS ONE, May 2013, 8(5): e64710. doi:10.1371/journal.pone.0064710

Abstract

Spots of blood are routinely collected from newborn babies onto filter paper called Guthrie cards and used to screen for metabolic and genetic disorders. The archived dried blood spots are an important and precious resource for genomic research. Whole genome amplification of dried blood spot DNA has been used to provide DNA for genome-wide SNP genotyping.

Ready To Go and its role in the future of molecular diagnostics

In general, any process that has requirements for a cold-chain or applications with a requirement to reduce the complexity of the [molecular diagnostic] assay could benefit from Ready-To-Go [ambient temperature assay stabilisation].

Stabilisation of biological assays and molecular diagnostics

We see increasing use of ambient temperature stabilisation of biological assays in two main areas. 

Publication focus: Whatman FTA and HPV genotyping

Agreement for HPV genotyping detection between self-collected specimens on a FTA cartridge and clinician-collected specimens.Guan Y. et al. J Virol Methods. 2013 Apr;189(1):167-71.

Abstract

The current method of transporting self-collected cervicovaginal specimen for HPV DNA testing relies on liquid based medium, which is challenging and expensive to transport.

Technology pulse 2: Towards more effective healthcare - a compelling study.

A recent article by Racey et. al., titled “Self-collect HPV Testing Improves Participation in Cervical Cancer Screening: A Systemic Review and Meta-analysis”¹ addressed an often challenging question of how to increase the effectiveness and reach of screening programs.

Analytical performance of self-collection methods for cervical cancer screening

In terms of analytical performance, there is solid evidence that there is good agreement between a set of patients who self-collected sample and a clinician collected sample. 

Current status of- & innovations in cervical cancer screening

The main innovation in cervical cancer screening is the switch from cervical cytology to HR-HPV testing as a preliminary screen (as a rule out test). An important attribute of HR-HPV is that because it is more sensitive than cervical cytology for cervical precancer and cancer, it permits a safe extension of screening intervals among the negatives, which then results in less harm due to screening and potentially lower costs.

Technology pulse: Opportunties with a twist

In the December 2012 issue of GEN, it was reported that by 2014 the global in vitro diagnostics (IVD) market is forecasted to surpass the $50 billion milestone. The two key drivers of demand are infectious disease testing and an aging population that is growing more susceptible to chronic disease such as arthritis, autoimmune diseases, asthma, diabetes, and cardiovascular diseases and cancer (which accounts for 12.5% of all deaths worldwide, more than HIV/AIDS, TB and malaria combined). Molecular diagnostics, which makes up more than 10% of the market, is one of the fastest growing segments with an 11% CAGR forecast. Together this means that molecular diagnostics will play an important role in these two market drivers.

Independent, peer-reviewed papers highlight the usefulness of FTA™ cards in specific DNA applications

We have identified a series of independent, peer-reviewed papers that highlight the usefulness of FTA™ cards in specific DNA applications, and in which you will find useful ideas, hints and tips for the use of FTA cards in your sample collection. The abstracts and conclusions from the first two papers are included below.

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This blog will keep you up to date with the latest insights and developments in the fields of genomics, molecular diagnostics, reagents, kits and immunodiagnostics, all the way from R&D to manufacture.