In an effort to provide customers with expanded, more comprehensive solutions for molecular testing, Siemens Healthineers has announced a new strategic relationship with Fast-track Diagnostics (FTD) that includes the addition of FTD’s broad range of CE-marked kits and multisyndromic panels to the menu of the Siemens Healthineers VERSANT kPCR Molecular System. The addition of FTD’s broad menu of kits and panels – which cover conditions from respiratory to gastroenteritis to central nervous system (CNS) and childhood infections – increases the breadth of Siemens Healthineers’ complete molecular testing solution, ensuring leading-edge performance from extraction through detection and increasing workflow efficiency for molecular labs of all sizes.
 “Over the past 24 months, Siemens Healthineers has made significant advancements in the delivery of molecular diagnostic applications and services,” says Fernando Beils, Head of Molecular Diagnostics, Siemens Healthineers. “We continue to strengthen and broaden our Molecular System by offering a comprehensive, scalable solution for accurate diagnosis and monitoring to our customers worldwide through our alliance with Fast-track Diagnostics.”
The VERSANT kPCR Molecular System, an established market player in molecular testing for HIV and Hepatitis, will now feature over 75 assays, consolidating testing for the infectious disease spectrum in a single molecular ecosystem.
“The VERSANT kPCR Molecular System is perfectly suited to our wide range of assays, which means laboratories can now diagnose nearly any infectious disease in one workflow,” says Bill Carman, CEO of Fast-track Diagnostics.
In offering customers the option of a single, consolidated system with a broad menu and virtually open platform, Siemens Healthineers enables healthcare providers to meet their current challenges, especially as an increasing push towards a value-based healthcare philosophy relies heavily on increased productivity and streamlined workflows. With this in mind, Siemens Healthineers has made its growth and enhancement within the molecular diagnostics space a key priority for its business strategy moving forward. www.siemens.com/healthineerswww.fast-trackdiagnostics.com

AP-HP teams in collaboration with researchers from the ICM (Inserm / CNRS / UPMC), and the start-up Metafora Biosystems, from the CNRS, have just developed a blood diagnostic test for a neurological disease rare but treatable, De Vivo’s disease.
It has been tested on 30 patients with this disease that induces neurological deficits such as epilepsy or walking disorders for example.
The new test will enable children and affected adults to be identified quickly (within 48 hours) and easily compared to current diagnostic tests that rely on invasive gestures, Lumbar puncture or complex DNA analysis.
De Vivo’s disease or syndrome of cerebral glucose transporter 1 (GLUT-1) deficiency is most often characterized by developmental delay, epilepsy and / or motor disorders in children. Frustrated forms have been described in children (access to abnormal movements) but also adults. Based on an estimated prevalence of 1/83 000 in the Danish population, the number of patients in France is estimated to be 800 , of which slightly more than 100 would be diagnosed. As soon as they are diagnosed, patients can benefit from metabolic treatments that decrease the symptoms.
In this study, blood samples from 30 patients with the disease with different profiles, according to age and symptoms, were analysed. Compared with 346 samples of control individuals, the results showed that the test was significantly conclusive with 78% of the diagnosis, including patients for whom the genetic analyses had not been able to establish the diagnosis.
Based on these results, researchers recommend the use of this test in clinical routine in all neurology and neurology departments. They suggest that the simplicity of this new test should increase the number of patients identified in France.
Thanks to this innovative new blood test, the disease can be sought in any patient with intellectual disability and / or epilepsy and / or a walking disorder. The treatments that can be implemented considerably improve the symptoms, such as the disappearance of epileptic seizures, and are all the more effective since they are started early, hence the importance of an early diagnosis .

The Bichat – Claude – Bernard Hospital
www.aphp.fr/contenu/un-test-sanguin-developpe-pour-detecter-une-maladie-rare-neurologique

Extending non-invasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes of Health and other institutions. Because of the way data have been analysed, typical genomic tests performed during pregnancy have targeted extra copies of chromosomes 21, 18 and 13, but rarely evaluated all 24 chromosomes. The study findings may ultimately improve the accuracy of these tests, including by explaining why some give false-positive results.
Women often request non-invasive screening tests to detect genetic conditions. These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition in which there are three instances of a certain chromosome instead of the standard two.
"Extending our analysis to all chromosomes allowed us to identify risk for serious complications and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH’s National Human Genome Research Institute (NHGRI). Dr. Bianchi is also the director of NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
The investigators analysed DNA sequence data from nearly 90,000 samples of maternal plasma, the liquid portion of blood after all cells have been removed. Of these samples, 72,972 came from a U.S. cohort and 16,885 came from an Australian cohort. For each, researchers calculated a normalized chromosome denominator quality (NCDQ), which measures the likelihood that a sample has the standard two copies of each chromosome. Those with an NCDQ of 50 or below were flagged for further evaluation.
In the U.S. cohort, 328 (0.45 percent) samples were flagged and ultimately classified as abnormal. In the Australian cohort, 71 (0.42 percent) samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both study cohorts, followed by trisomies 15, 16 and 22.
Pregnancy and other outcome data were available for 52 of the 60 cases of rare trisomies found in the Australian cohort. Notably, researchers linked 22 samples with early miscarriage (occurring before 11 or 12 weeks gestation), including 13 of 14 samples with trisomy 15 and 3 of 5 samples with trisomy 22.
"We found that pregnancies at greatest risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. Pertile, Ph.D., co-first author of the study and head of the division of reproductive genetics at Victorian Clinical Genetics Services, part of Murdoch Childrens Research Institute in Melbourne, Australia. "Our results suggest that patients be given the option of receiving test results from all 24 chromosomes."

The National Human Genome Research Institute (NHGRI)
www.genome.gov/27569418/2017-news-relase-sequencing-all-24-human-chromosomes-uncovers-rare-disorders/
 

Epigenetic changes present at birth – in genes related to addiction and aggression – could be linked to conduct problems in children, according to a new study by King’s College London and the University of Bristol.
Conduct problems (CP) such as fighting, lying and stealing are the most common reason for child treatment referral in the UK, costing an estimated £22 billion per year. Children who develop conduct problems before the age of 10 (known as early-onset CP) are at a much higher risk for severe and chronic antisocial behaviour across the lifespan, resulting in further social costs related to crime, welfare dependence and health-care needs.
Genetic factors are known to strongly influence conduct problems, explaining between 50-80 per cent of the differences between children who develop problems and those who do not. However, little is known about how genetic factors interact with environmental influences – especially during foetal development – to increase the risk for later conduct problems. Understanding changes in DNA methylation, an epigenetic process that regulates how genes are ‘switched on and off’, could aid the development of more effective approaches to preventing later conduct problems.
The study used data from Bristol’s Avon Longitudinal Study of Parents and Children (ALSPAC) to examine associations between DNA methylation at birth and conduct problems from the ages of four to 13.
The researchers also measured the influence of environmental factors previously linked to early onset of conduct problems, including maternal diet, smoking, alcohol use and exposure to stressful life events.
They found that at birth, epigenetic changes in seven sites across children’s DNA differentiated those who went on to develop early-onset versus those who did not. Some of these epigenetic differences were associated with prenatal exposures, such as smoking and alcohol use during pregnancy.
One of the genes which showed the most significant epigenetic changes, called MGLL, is known to play a role in reward, addiction and pain perception. This is notable as previous research suggests conduct problems are often accompanied by substance abuse, and there is also evidence indicating that some people who engage in antisocial lifestyles show higher pain tolerance. The researchers also found smaller differences in a number of genes previously associated with aggression and antisocial behaviour, including MAOA.
Dr Edward Barker, senior author from King’s College London, said: ‘We know that children with early-onset conduct problems are much more likely to engage in antisocial behaviour as adults, so this is clearly a very important group to look at from a societal point of view.
‘There is good evidence that exposure to maternal smoking and alcohol is associated with developmental problems in children, yet we don’t know how increased risk for conduct problems occurs. These results suggest that epigenetic changes taking place in the womb are a good place to start.’

King’s College London
www.kcl.ac.uk/ioppn/news/records/2017/06-June/Epigenetic-changes-at-birth-could-explain-later-behaviour-problems.aspx

More than 100 industry experts to highlight the latest medical laboratory and diagnostics trends and innovation
The 5^th edition of MEDLAB Asia Pacific Exhibition & Congress, leading B2B business and educational platform in the field of laboratory and diagnostics for the Asia Pacific region, will offer visitors the opportunity to attend a series of scientific conferences that will cover advancement in science, technology and application of various laboratory techniques to strengthen cooperation between lab and clinic interface.
Supported by The Academy of Medicine, Singapore and accredited by Singapore Medical Council, the 15 CME-certified conferences will empower delegates with the knowledge and skills to guarantee the fastest, safest and most accurate laboratory results in improving patient service and care.
During the three-day congress, which takes place from 2 – 4 April 2018 at Suntec Singapore Convention & Exhibition Centre in Singapore, a variety of carefully-designed sessions, panel discussions, demonstrations and interactive activities will enable delegates to network and share best practices with more than 100 regional and international experts who are champions of laboratory medicine in the Asia Pacific.
The congress will host 11 dedicated laboratory tracks: Laboratory Management, ­Clinical Chemistry, Haematology & Blood Transfusion, Infectious Diseases, Point of Care Testing, Cytology, Molecular Diagnostics, Laboratory Informatics, Cardiac Markers, ­ Lab Testing: Obs Gyne & Women’s Health and Lab Testing & Management: Diabetes.
During these sessions, delegates will able schooled in a wide variety of key topics including the role of the laboratory director, 4^th generation sequencing, updates in assays to improve skills in test accuracy, digital pathology, and the evaluation of current and future biomarkers, to name a few.
Due to the expanding role of laboratory medicine, the meeting is combined with other clinical specialties that will underscore the overarching influence of the laboratory in medical decision-making and treatment. New conferences in the MEDLAB Asia Pacific Congress portfolio are: Obs Gyne & Women’s Health, Gynae-Oncology, Diabetes Management and Antimicrobial Resistance.
“The advent of groundbreaking diagnostic solutions is gaining pace across the region. By introducing new medical tracks from key specialties that interact with the laboratory, the 2018 MEDLAB Asia Pacific Congress will provide the latest evidence-based research into diagnosis and treatment as well as enhance cooperation between laboratory professionals and clinicians to enable the best possible patient outcomes.” said Rejoy Penacerrada, Senior Conference Producer, MEDLAB Asia.
MEDLAB Asia Pacific 2018  is supported by a large number of key healthcare federations and associations across the region including The Royal College of Pathologists of Australasia, Singapore Society of Pathology, College of Pathologists, Academy of Medicine of Malaysia, Indonesian Association of Clinical Pathologist and Laboratory Medicine, Singapore Society of Haematology, College of American Pathologists, Philippine Society of Pathologists, Inc., Philippine Society of Biochemistry and Molecular Biology, Philippine Society of Microbiology, Indonesian Association of Clinical Chemistry, Society of Infectious Disease Singapore, and Society of Cytology Singapore and Diabetes Singapore.
Held alongside the congress is the MEDLAB Asia Pacific exhibition – a platform for leading companies from across the globe to showcase current technologies and innovations in the field of laboratory and diagnostics to an expected 4,000 visitors.
MEDLAB Asia Pacific is also co-located with Asia Health, a trade exhibition for medical equipment, products, services and technologies hosting more than 250 international companies and bringing together the world of medical laboratory and healthcare under one roof.
Registration for the MEDLAB Asia Pacific Congress is now open via www.medlabasia.com.