PCR-Free Novel Genome Sequencing Technology

Will Nanopore Sequencing Make it Obsolete?

Genome sequencers have been tweaking polymerase chain reaction (PCR) amplification to avoid introducing artifacts into sequencing libraries, ranging from modifications in chemistries to the introduction of novel sequencing technologies that could obviate the need for PCR altogether.

PCR-related problems have included uneven amplification, causing overrepresentation of some sequence species and nucleotide misincorporation. In particular, sequencing genomes or genomic regions with extremely biased base composition remains a challenge to the currently available next-generation sequencing (NGS) platforms. These include, for example, the genomes of important pathogenic organisms like Plasmodium falciparum with a high adenine–thymine (AT) content and Mycobacterium tuberculosis with high guanine–cytosine (GC) content.

These genomes have proven difficult for sequencers because the standard library preparation procedures that employ PCR amplification cause uneven read coverage across these regions, leading to problems in genome assembly and variation analyses. 

Read more: PCR-Free Novel Genome Sequencing Technology

Disruptive sequencing based on nanopore technology has the potential to change
completely the way DNA sequencing is done.

Source: beawolf/Fotolia

Sticky beads binding to sperm could offer a novel contraceptive

You ain't going nowhere.

We might have a brand new type of contraceptive on our hands, with scientists inventing sticky beads that can mimic female eggs in the uterus, and act as decoys to lure in sperm, bind to them, and block them from reaching the real thing.

The beads, which have so far only been tested in mice, do their thing thanks to a protein called ZP2, which exists on the zona pellucida – the surface of mammalian eggs. During conception, a sperm cell recognises a molecular fragment of ZP2 and binds to it, enabling the egg to be penetrated and fertilised. By mimicking this process with inert beads coated in the same protein, the sticky beads are effectively a honey pot to trap unwitting sperm.

In the study, a team from the US National Institute of Diabetes and Digestive and Kidney Diseases embedded the sticky beads into the uterus of female mice.

Read more: Sticky beads binding to sperm could offer a novel contraceptive

Source: ScienceAlert

Complete Blood Count in Primary Care

Key points

To provide an overview of the use of the complete blood count in primary care and to provide advice on appropriate follow-up for abnormal results.

Introduction

The complete blood count (CBC) is the most frequently requested blood test in New Zealand. The primary points of interest in the CBC are often whether a patient is anaemic, whether the white count shows evidence of infection and whether the platelets are at a level that may affect haemostasis.

GPs have told us they are reasonably comfortable interpreting CBC results with marked abnormalities, but would like guidance when the results show only subtle abnormalities or when the clinical picture is not clear.

This is a consensus document

This is not a comprehensive document covering all causes of abnormal results; it is a consensus document produced in conjunction with specialist haematologists, providing an overview for some scenarios encountered in primary care.

Background

Haematopoiesis - Cell development

All blood cells are produced within the bone marrow from a small population of stem cells. Less than one in 5000 of the marrow cells is a stem cell. These cells represent a self-renewing population.

Download here: Complete Blood Count in Primary Care

Source: Best Practice Advocacy Centre New Zealand

Virus attacks hospital's medical laboratory department computers

Virus Attacks Hospital’s Medical Laboratory Department Computers, Crippling Workflow and Spreading to Other Departments

Incident highlights need for anatomic pathology and clinical laboratories to protect computer and LIS systems from hackers and malware

Anatomic pathology labs and clinical laboratories that continue to run Microsoft Windows XP on their computer systems now have a real threat to address. In Australia, the computers in a hospital’s medical laboratory were infected in January with a computer virus that shut down the system. To maintain clinical services, the lab staff was forced to use paper-based methods, among other solutions.

The computer virus crippled the pathology department at the Royal Melbourne Hospital and spread throughout the hospital system by targeting computers running Microsoft Windows XP. This is a 14-year-old operating system that Microsoft no longer supports.

Read more: Virus attacks hospital's medical laboratory department computers

Source: WorldCrunch/CloudTimes

Molecular Diagnostics in the Microbiology Laboratory

A look at some of the newest generation ‘load and go’ molecular microbiology analyzers.

For decades, pathogens have been isolated and grown in blood cultures, and detected using microscopes, serology and biochemical techniques. However the last few years have seen a revolution in modern microbiology.

The above tests still form the core work of most routine microbiology labs, but modern analytical techniques such as molecular diagnostics and mass spectrometry are increasingly being incorporated, to varying degrees, in laboratories around the world.

Molecular diagnostics refers to the analysis of nucleic acid from DNA or RNA. In the clinical microbiology lab, scientists are looking for the nucleic acid of microorganisms to confirm or exclude a diagnosis.

The molecular diagnostic work undertaken in the lab can vary from a simple, manual monoplex polymerase chain reaction (PCR) based test to complex automated, multiplex testing (testing for multiple pathogens simultaneously). Some of the newest generation ‘load and go’ molecular analyzers are detailed below.

VERIS Mdx Molecular Diagnostics System

The DxN VERIS combines sample prep and sample analysis steps into a single workflow. The automation of DNA extraction, purification, assay set-up and analysis saves the user time and also prevents user error and the risk of contamination. Using real-time PCR, the system is designed for multiplex assays and uses magnetic particle separation for nucleic acid extraction and purification. The initial test menu includes Cytomegalovirus, Hepatitis B, Hepatitis C and HIV-1 ......

Read more: Molecular Diagnostics in the Microbiology Laboratory

Microbiology has traditionally involved use of blood cultures, however molecular methods are
increasingly employed in modern laboratories;
Beckman Coulter's VERIS Mdx Molecular Diagnostics System

Source: SelectScience

Medical Laboratory Technology

A medical laboratory scientist (MLS), also referred to as a clinical laboratory scientist (Honors) or Medical laboratory technologist (Old name for simple Bsc degree holder) is a laboratory based healthcare professional who performs complex chemical, hematological, immunologic, histopathological, cytopathological, microscopic, and bacteriological diagnostic analyses on body fluids such as blood, urine, sputum, stool, cerebrospinal fluid (CSF), peritoneal fluid, pericardial fluid, and synovial fluid, as well as other specimens.

Medical laboratory scientists work in clinical laboratories at hospitals, physician's offices, reference labs, biotechnology labs and non-clinical industrial labs.

Video Link: Medical Laboratory Technology

Source: SaskatoonHealthReg

Clinical Chemistry Analyser: Vitros 5600

An integrated chemistry analyser - Vitros 5600.

Here is an overview of the Vitros 5600 integrated analyser, a next generation system of Ortho Clinical Diagnostics (a JnJ Company).

Highlights:

• capability to add or remove reagents and consumables, and empty solid and liquid waste while operating;
• sample-centered processing integration approach eliminates need to move sample trays or aliquot samples between chemistry and immunoassay processing modules;
• integrates chemistry, immunoassay, and infectious disease testing, and process them in parallel; 
• integrated MicroTip technology expands menu availability, such as DATs, TDMs, specific proteins, %HbA1c, and user-defined channels;
• MicroSensor technology detects interfering levels of hemolysis, icterus, and turbidity;
• e-Connectivity assists with remote diagnostics, software, and test parameter downloads and updates

Video Link: Vitros 5600

Source: www.orthoclinical.com

How about having your DNA analyzed?

Your DNA is a bit like a crystal ball.

It’s strange to think at our core there might be a strand that dictates how much of our life plays out. It can influence a person’s chance of becoming a supermodel, a sufferer of an acute disease, having a sweet tooth or going grey at the age of 21.

So if someone offered to take a look at your DNA for you, would you take them up on the offer?

Life Letters is an Australian company that will analyse your DNA for $540.

The test has been created to let prospective parents know the risk of passing 148 genetic faults on to their children. These include cystic fibrosis, Tay-Sachs, haemophilia, spinal muscular atrophy and fragile X syndrome. In some instances they may find something in your DNA that could affect your personal health in the long term, but the main focus is what you’ll potentially pass on to your children.

The tests can be purchased online, you don’t need a doctor’s referral and at the end you have a consultation with a genetic counsellor over the phone who makes sure you understand the information and can make educated decisions.

Read more: How about having your DNA analyzed?

Do you want to know the story your DNA tells?

Source: news.com.au

Enabling Rapid Results for Effective Neonatal Care

The epoc® Blood Analysis System provides the fast and accurate results that clinicians need to make accelerated treatment decisions

Anyone working with neonates understands the importance of quick and accurate analysis. These tiny patients have different biomarkers from adults, they also have immature immune systems and provide smaller blood samples that are more difficult to acquire. However, with neonatal testing, timing and result quality is often crucial to the wellbeing of the child.

Case Example: London, UK – Gracie*

Gracie was born prematurely. She immediately had trouble breathing, despite the rapid use of an oxygen breathing mask and was whisked off to the NICU. Glucose, oxygen, and electrolytes were quickly analyzed using the epoc® Blood Analysis System and after seeing the results, the doctor was able to give a prompt diagnosis of Persistent Pulmonary Hypertension. Gracie’s rapid results meant that she could receive the treatment she needed and was soon able to be reunited with her parents. 

epoc® Blood Analysis System

Such quick testing is made possible by the advanced Smartcard Technology and wireless communication offered by the epoc® Blood Analysis System. This point-of-care testing solution is able to analyze a small sample of blood (92μL) and transfer the results wirelessly to the epoc® Host2 Mobile Computer, in approximately 30 seconds. This almost instantaneous delivery of blood gas, oxygen, and electrolyte results from the patient’s bedside, allows the clinician to make the accelerated treatment decisions that are necessary when dealing with acute neonatal situations.

Read more: Enabling Rapid Results for Effective Neonatal Care

Clinicians have to make rapid treatment decisions when dealing with acute neonatal situations

Source: Pixabay

Laboratory Developed Tests (LDTs)

An emerging area of FDA regulation

Laboratory developed tests (LDTs) are being increasingly integrated into the standard practice of diagnosing and predicting the risk of developing a disease, as well as informing decisions regarding the management of disease states like cancer, heart disease and diabetes. LDTs are in vitro diagnostic tests that are designed, manufactured and used within a single laboratory. LDT providers typically create the necessary reagents themselves or purchase reagents from outside vendors and then develop their own proprietary tests for in-house pathology and diagnostic purposes, which facilitate the evaluation of alterations in biomarker levels and/or the presence or absence of genetic susceptibility mutations in patients. These diagnostic tests may aid in clinical decision making pertaining to the prevention, treatment and management of an array of common diseases.

Estimates suggest that tens of thousands of diagnostic tests, including the majority of genetic tests, are currently offered as LDTs.1 The growing reliance on diagnostic tests in guiding critical treatment decisions, combined with the dramatic increase in the number and complexity of LDTs, have created legitimate concerns over the safety and effectiveness of new LDTs. Accordingly, regulatory safeguards that ensure the accuracy of LDTs, particularly high-risk LDTs, are warranted so that patients do not seek unnecessary treatments, delay needed treatments or become exposed to inappropriate therapies.

Read more: Laboratory Developed Tests (LDTs)

Source: PersonalizedMedicine